Expect the Unexpected (Preview)

Expect the Unexpected

A Compilation of Common Clinical Cases Posing as Diagnostic Dilemmas

Chia Yook Chin

Ng Wei Leik

REVIEW

The case studies of Expect the Unexpected written by Professor Chia Yook Chin and Dr Ng Wei Leik provided me with numerous insights into searching for unexpected clinical events. Reading these cases offered me an excellent opportunity to continue developing my profession as a medical practitioner. With that said, the challenge and dilemma faced by family physicians in daily practice is the inability to differentiate selflimiting health conditions from possible serious underlying pathologies. Patients usually present non-specific symptoms or signs, and family physicians need to be very cautious not to over-investigate but also not miss potential life-threatening conditions. What are these cues for a detailed workup? How and where would we strike the balance?

This compilation enables us to become more alert of potential red flags, symptoms, and signs to consider severe hidden illnesses as diagnostic possibilities. The authors have determined how to establish these diagnostic hypotheses through meticulous history taking and appropriate clinical examination—managing the cases with effective use of time as a diagnostic tool and the rational use of more intensive investigations. The book also illustrates how some cases are safe to observe and monitor, but would require comprehensive and holistic care while considering physical and psycho-social perspectives before making the diagnosis.

In every case, background information is provided with good references, helping to refresh our knowledge and problem-solving skills in managing clinical uncertainties. The learning points are also important take-home messages. will greatly benefit family physicians at different stages of their careers and to clinicians providing first contact with patient care. This book is strongly recommended to enhance our expectations for unexpected clinical conditions.

Albert Lee, MB, BS, DCH, MPH, MD, FRACGP, FRCP, Hon FFPH Emeritus Professor of Public Health and Primary Care, The Chinese University of Hong Kong, Governor of Board of World Association for Medical Law, Member of Education Committee, Australasian College of Legal Medicine.

Chia Yook Chin

Ng Wei Leik

Copyright © 2024 by Sunway University Sdn Bhd

Published by Sunway University Press

An imprint of Sunway University Sdn Bhd

No. 5, Jalan Universiti

Bandar Sunway

47500 Selangor Darul Ehsan Malaysia

press.sunway.edu.my

All rights reserved. No part of this publication may be reproduced, stored in

FOREWORD

“Life is short, art long, opportunity fleeting, experience treacherous, judgement difficult”

Hippocrates

There has been a long tradition in Medicine of learning from case histories, a tradition that sadly seems to have tapered off. As a parallel, storytelling, in nearly all cultures globally, has been a powerful medium for imparting learning and wisdom and one that carries the additional frisson of delineating right from wrong and what should have been done, akin to parables of morality. Of late, case studies are being incorporated more into the management and health policy fields, especially with the need to appreciate patients’ experiences with the health services. It is refreshing, therefore, to return to a series of clinicians’ own experiences around their encounters with patients and how their accounts can help us with our own consultations.

The essence of a good case history, one from which valuable pointers can be picked up, is the detailed and continuous account of what unfolded, combined with the essential elements of honesty and openness. No doctor is perfect in their decision making and the passage of time following a patient’s initial presentation can make previous diagnoses and care seem inadequate and misguided. In this book of cases, with openness and honesty, the authors recognise the difficulties of getting things right the first time, every time. They emphasise the need to return to the basics, with an open, objective mindset particularly when the patient needs to be seen again. Things do not always work out as we thought they would.

There is much to be learnt from these case histories, and it is commendable that Professor Chia and Dr Ng have put their experience to good use for us within an undercurrent of humanity and caring. Their experience covers many years of frontline exposure to acute emergencies as well as the routine follow-up of patients whose problems were initially inadequately resolved. The range of cases presented is wide-ranging with reflections on the ethical and legal dimensions when these are key features of the situation. The cases are presented in an accessible and readable manner, in a format that makes almost compulsive reading for a fellow doctor!

Professor Pali Hungin, OBE, DL, MD, FRCP, FRCGP, FRSA Former Dean of Medicine, Durham University, UK President, British Medical Association, 2017

I have been meaning to collate the stories of the patients whom I have managed and learnt from, to share with trainees. But alas, I have only managed to do so now because of competing interests and work demands. Here, together with my former trainee, Dr Ng Wei Leik, is a collection of cases I hope young doctors can learn from.

What actually spurred me to write this book is that during all my years in academia teaching both undergraduate medical students and postgraduate trainees, I shared with them cases I had managed myself or been consulted on by trainees, during the teaching, audit and case discussion sessions.

It was apparent to me that certain common conditions frequently present themselves in primary care, yet they can be very different. One example is headache, a common primary care problem that can carry very different diagnoses. Herein lies our need to be able to differentiate the conditions carefully so that the correct treatment is prescribed to the patient.

One might notice that this book is a collection of common presenting conditions and not so much of the rare, unusual cases seen perhaps only once in a lifetime or not at all.

While there is a lot of solid science behind the practice of medicine, the art is also crucial. Patients tell a very good tale about their illness. Hence, we must pay more attention to what they are saying rather than paraphrasing their complaints with our medical terminology. I remember what my professor of medicine said when I was a medical student: “The chief complaint must be in the patient’s own words.” I have found this to be very useful when trying to make a diagnosis.

In this age of computerisation and computerised medical records, we tend to miss a lot of information because we are too busy looking at the medical records on the computer screen when the patient comes into the consultation room. Again, I remember my professor saying

that you can almost make a diagnosis the minute the patient walks in. I found this to be useful each time I see a patient and indeed, one of the cases in this book illustrates this.

Another aspect we need to remember in primary care is to keep reviewing patients at each follow-up visit especially when the initial diagnosis is not clear or confirmed, as frequently, more time is needed to make the correct diagnosis.

Finally, one of the greatest challenges for a primary care doctor is time. Frequently, doctors are required to see many patients in a session, each less than five minutes, at most ten, to carry out the necessary procedures. Hence it is not surprising that mistakes of missed diagnosis at the first encounter can be made. I hope this collection of cases will help doctors to better diagnose patients and for others not to be too critical when the diagnosis is not made at the first consultation.

Prof Dr Chia Yook Chin, MBBS, LRCP, MRCS, FRCP, FAFPM (Hon)

As a former student of Professor Chia, I had always listened to her encounters with patients during the teaching sessions. The nuances of family practice that we discerned in her stories can only be drawn from a vast experience of seeing many patients. They are not something that you would get out of a textbook. I like to think of it as a master sharing the secrets of the trade.

Something that I have consistently always appreciated about Professor Chia’s stories is her determination to find out what is wrong with a patient and her commitment to proper, thorough clinical assessment (both history and physical examination). This is something I hope to inspire in the next generation of doctors.

To this day, I still share some of Professor Chia’s many cases with our young students and doctors. I hope that this book is able to provide a glimpse into the many interesting cases that we encounter in our practice as primary care doctors.

Dr Ng Wei Leik, MBBS, MMed, AM (Mal)

INTRODUCTION

“Making a diagnosis in primary care is hard.”

“I am referring this case to another specialist anyway; the diagnosis does not matter.”

“It’s not my job to come up with the final diagnosis.”

“We should only be dealing with simple cases in primary care.”

“Why bother diagnosing now? Lab tests and imaging will give me the answer.”

These are some of the comments that some trainees and primary care colleagues say regarding primary care practice. Working in primary care, we often encounter the challenges of making a diagnosis in the face of undifferentiated symptoms, time constraints, and limited resources. There are times that we may feel content with passing the buck to others to make the diagnosis, as long as the patient is safe and sound. There are also times that we may feel that our skills in making a diagnosis from good old-fashioned history taking and physical examination are slowly being superseded by modern science and technology.

This book shares anecdotes of cases in primary care, most of which deal with diagnostic difficulties in the day-to-day challenges of managing patients from all walks of life. These stories are accompanied by learning points that we can garner from each case. These personal accounts of a primary care doctor will hopefully inspire other doctors, particularly the younger ones, to take pride in their profession and the age-old skill of evaluating a patient clinically.

Also included are some theoretical information and a list of references pertaining to each individual case. While they are not a substitute for proper formal study (particularly in this internet age where knowledge is continually updated), the concise information provided will hopefully offer new knowledge to readers with a quick read.

Think of this book as a compilation of short stories that you can read at leisure, while learning at the same time, akin to good old fables.

SECTION 1

CASE 1

21-year-old man with recent headache

This patient first came to the clinic complaining of a headache of recent onset. A diagnosis of tension headache was made. He was given analgesia and was told to come for follow-up if he did not get better. He came the second time a week later and the same diagnosis was made. A different analgesic was prescribed to him.

By the time I saw him on his third visit, as a walk-in patient, his headache

He described the headache as mild but all over the head. He could not really describe the nature of the headache but when asked directly whether it was band-like or throbbing, he said it was neither. The headache was not getting worse, but it was persistent although not very severe. It was not associated with fever, aura, neurological symptoms or symptoms suggestive of raised intracranial pressure. He was well before this with no history of head injury. He was not on any recreational drugs.

On examination, his visual acuity was 6/6 bilaterally but bitemporal hemianopia was detected. There was no papilloedema and all other neurological examinations were normal.

I proceeded to screen for a pituitary tumour and ordered a lateral X-ray view of the skull. The pituitary fossa was very enlarged. I ordered a serum prolactin test and it showed that the prolactin level was more than 1000 ng/ml. This confirmed a prolactinoma with compression of the optic chiasma.

I referred him to the endocrinologist and conservative treatment with bromocriptine was prescribed. He subsequently did not have any more headaches and his bitemporal hemianopia improved. His serum prolactin levels came down to near normal and a computed tomography (CT) scan of the brain showed only a slightly enlarged pituitary.

LEARNING POINTS

1. As usual, take the history and do the full physical examination yourself.

2. Do not assume all headaches in young individuals are tension headaches

3. Usually, the deceptive thinking is that space-occupying lesions in the brain are associated with severe headaches. Instead, the opposite is more likely.

4. Always, always do a full neurological examination! This will include visual acuity, visual field, funduscopy and all the other cranial nerves, not just the power and reflexes. Upper neurological functions like memory should also be assessed especially in older individuals presenting with new-onset headaches

BACKGROUND INFORMATION

Around 98% of all headaches are due to primary headache disorders such as migraine and cluster headache. However, it is important to recognise secondary causes of headache. The consequences of missing a diagnosis such as brain tumour would be grave as it can lead to mortality. Recognising a pattern of headache associated with brain tumours is challenging as the pain is usually dull and non-specific regarding location. The incidence of headache in pituitary adenoma ranges from 33% to 72%. Among all types of pituitary adenomas, headache is reported to be more prevalent in patients with prolactin-secreting adenoma, better known as prolactinoma.

Although prolactinomas are rare with incidence quoted at 3 to 5 new cases per 100,000 population per year, they are the most common pituitary gland tumours. Around 40% of all pituitary adenomas are due to prolactinoma. Females are affected more (78.2%). Prolactinomas are classified into microprolactinoma (less than 10 mm in diameter) or macroprolactinoma (more than 10 mm), with microprolactinoma being more common.

Patients with prolactinomas can present with symptoms of hyperprolactinaemia such as amenorrhoea, oligomenorrhoea, galactorrhoea, infertility, erectile dysfunction, hirsutism or osteoporosis. Those with larger tumour size may present with mass effect such as headache, visual field defects (more commonly, bitemporal hemianopia), hypopituitarism, cranial nerve palsies or seizures. Women rarely present with mass effect symptoms because most prolactinomas in women are small and often do not progress in size. In men, 80% of prolactinomas are macroadenomas. Thus, mass effect symptoms usually occur in men. Do note that pituitary incidentalomas (incidental finding of pituitary tumour on imaging) are commonly encountered in clinical practice as well. Most pituitary incidentalomas are small in size (less than 10 mm).

Evaluation of a pituitary tumour involves hormonal evaluation and imaging. Hormone panels include measurements of serum prolactin, insulin-like growth factor 1 (IGF-1), plasma corticotropin (ACTH), 24-hour urinary free cortisol, follicle-stimulating hormone (FSH), luteinising hormone (LH) and thyroid hormones. Magnetic resonance imaging (MRI) is the imaging of choice.

Treatment is indicated in the presence of mass effects or significant hyperprolactinaemia symptoms. Bromocriptine or cabergoline is the general medication of choice for treatment of prolactinomas. Transsphenoidal surgery should be considered when medical treatment is unsuccessful in reducing the size of the prolactinoma.

REFERENCES

Abe, T., Matsumoto, K., Kuwazawa, J., Toyoda, I., & Sasaki, K. (1998). Headache associated with pituitary adenomas. Headache, 38(10), 782–786. https://doi.org/10.1046/j.1526-4610.1998.3810782.x

Ahmed, F. (2012). Headache disorders: Differentiating and managing the common subtypes. British Journal of Pain, 6(3):124–132. https://doi. org/10.1177/2049463712459691

Chanson, P., & Maiter, D. (2019). The epidemiology, diagnosis and treatment of prolactinomas: The old and the new. Best Practice & Research: Clinical Endocrinology & Metabolism

Melmed, S., Casanueva, F. F., Hoffman, A. R., Kleinberg, D. L., Montori, V. M., Schlechte, J. A., & Wass, J. A. H. (2011). Diagnosis and treatment of hyperprolactinemia: An Endocrine Society clinical practice guideline. The Journal of Clinical Endocrinology & Metabolism (2), 273–288. https:// doi.org/10.1210/jc.2010-1692

Rogers, A., Karavitaki, N., & Wass, J. A. H. (2014). Diagnosis and management of prolactinomas and non-functioning pituitary adenomas. BMJ

Schankin, C. J., Ferrari, U., Reinisch, V. M., Birnbaum, T., Goldbrunner, R., & Straube, A. (2007). Characteristics of brain tumour-associated headache (8), 904–911. https://doi.org/10.1111/j.14682982.2007.01368.x

Synder, P. J. (2019). . UpToDate. Retrieved April 12, 2020, from https://www.uptodate.com/contents/managementof-hyperprolactinemia

CASE 2

52-year-old man with five months of headache

This patient was clerked by a final year medical student and presented to me at a teaching session.

The history from the student was that the patient had been having headache for the past five months. It was a non-specific headache, not very severe but persistent. He had seen several doctors without any improvement before coming to our centre. He did not have a prior history of headache and there was no other significant history nor any symptoms of raised intracranial pressure. The student reported that the blood pressure and physical examination were normal.

When the patient walked into our crowded consultation room, I noticed that he held lightly onto the edge of my table, suggesting to me some instability, or unsteadiness, which would be unusual for a not very old man. It prompted me to think he may have cerebellar lesion. I proceeded to take my own history and indeed most of the initial information was similar to what the student had reported. I then asked him specifically about his vision (which he said was normal) and his hearing. He replied his left ear was a little deaf but he attributed it to “saya sudah tua; dengar sikit-sikit kurang” (Bahasa Malaysia, meaning “I am already old; there is a slight decrease in my hearing”), implying to himself that his decreased hearing was due to his older age. However, when I did the examination, I found sensorineural deafness in his left ear but could not detect obvious cerebellar signs. There was no papilloedema and all other neurological examinations were normal.

I ordered an immediate CT scan of the brain and found a mass in the auditory canal suggestive of an acoustic neuroma. I then referred him to the neurosurgeon.

LEARNING POINTS

1. New-onset headache at an older age is a red flag, as it is unusual for an older person to have new-onset headache.

2. It is also a red flag when the headache has persisted for so long.

3. Again, take your own history and be thorough.

4. Be thorough in the physical examination.

5. Observe patient as he walks into your consultation room.

BACKGROUND INFORMATION

New-onset of headaches, especially after 50–60 years old, is rare for primary headaches . Secondary causes such as mass lesion must be considered.

Acoustic neuroma, otherwise known as vestibular schwannoma, is a tumour that arises from the vestibular part of the eighth cranial nerve. Acoustic neuromas account for approximately 8% of all intracranial tumours which manifest clinically. Acoustic neuromas typically present between the fourth to sixth decades of life with a median age of 50 years. In more than 90% of cases, acoustic neuromas present unilaterally.

The presence of unilateral sensorineural hearing loss is common in acoustic neuroma. A retrospective review of cases by Philip et al. (2009) of acoustic neuromas operated on in the Universiti Malaya Medical Centre from 2001 to 2006 showed that hearing loss and headache were the common symptoms (63% and 52% respectively). Other symptoms include dysequilibrium (30%), facial numbness (30%), tinnitus (26%) and gait disturbances (15%). The hearing loss is usually chronic (average duration of four years) and patients may be unaware of this symptom. Weber and Rinne tests would be useful to pick this up.

Imaging of choice to confirm the presence of acoustic neuroma is MRI or high-resolution CT scanning as an alternative. Treatment options include surgery, radiation therapy or observation in carefully selected patients.

REFERENCES

Greene, J., & Al-Dhahir, M. A. (2020). Acoustic neuroma. StatPearls Publishing LLC. Retrieved June 16, 2020, from https://www.ncbi.nlm.nih.gov/ books/NBK470177/

Haan, J., Hollander, J., & Ferrari, M. D. (2007). Migraine in the elderly: A review. (2), 97–106. https://doi.org/10.1111/j.14682982.2006.01250.x

Newman, L. C., & Lipton, R. B. (1998). Emergency department evaluation of headache (2), 285–303. https://doi.org/10.1016/ s0733-8619(05)70065-7

Park, J. K., Vernick, D. M., & Ramakrishna, N. (2020). Vestibular schwannoma (acoustic neuroma . UpToDate. Retrieved April 15, 2020, from https://www. uptodate.com/contents/vestibular-schwannoma-acoustic-neuroma

Philip, R., Prepageran, N., Raman, R., Jennifer, L. P. H., & Waran, V. (2009). Surgical management of large acoustic neuromas: A review. The Medical Journal of Malaysia

Propp, J. M., McCarthy, B. J., Davis, F. G., & Preston-Martin, S. (2006). Descriptive epidemiology of vestibular schwannomas. 8(1), 1–11. https://doi.org/ 10.1215/S1522851704001097

CASE 3

22-year-old woman with one week of headache

My trainee saw this patient and consulted me.

This 22-year-old single girl first presented with a one-week history of headache was made at the initial visit, and she was prescribed NSAIDs. During follow-up a week later, she said that her headache was still present and was getting a little worse. However, according to the second attending doctor, there were no alarm features. She was prescribed analgesics again. On her third visit, yet another doctor who saw her then consulted me. She reported the headache as not very severe with no symptoms of raised intracranial pressure and that all examinations were normal. I proceeded to take the patient’s history myself. The history was basically the same as before, but I asked if she was on any drugs. She replied that she was taking tetracycline for her acne.

To save time, I immediately examined the patient’s fundus. There was obvious bilateral papilloedema. I asked the attending doctor if she had examined the fundus and the answer was no. Neither had the other two doctors who saw her earlier.

I made a diagnosis of idiopathic intracranial hypertension secondary to tetracycline.

There was no mass lesion on the CT scan of the brain. Lumbar puncture showed a raised opening pressure. After several repeat lumbar punctures, her intracranial pressure came back to normal and she recovered without any neurological complications.

LEARNING POINTS

1. Again, a full neurological examination must be done and must include a fundoscopic examination.

2. It is possible that the fundus may have been normal at the first visit, but whenever headache persists, physical examination must be repeated.

BACKGROUND INFORMATION

Idiopathic intracranial hypertension (IIH) was previously known as pseudotumour cerebri or benign intracranial hypertension. The key defining feature for IIH is the presence of unexplained raised intracranial pressure (ICP). It is noted to be more common among obese women of childbearing age. There is no local data on the epidemiology of IIH.

IIH is associated with several risk factors such as obesity, systemic disorders such as chronic kidney diseases, obstructive sleep apnoea, systemic lupus erythematosus, chronic obstructive pulmonary disease, and endocrine disorders such as Addison’s disease, adrenal insufficiency, Cushing’s syndrome, hypoparathyroidism and thyroid dysfunction. Some medications have also been reported to cause IIH such as fluoroquinolones, tetracyclines, vitamin A derivatives, growth hormone, levothyroxine, oral contraceptives and tamoxifen.

Headache is the most common symptom described in IIH, followed by visual disturbances (transient visual loss, photopsia, diplopia) and tinnitus. It is difficult to differentiate IIH from other causes of headache based on the characteristics of the headache alone. The headache in IIH is often non-specific and can be similar to primary headache disorders such as migraine or tension headache. It can be confused with medication-overuse headache because patients may use analgesics regularly to relieve the refractory headache in IIH. Pulsatile tinnitus in the setting of headache can help to point to IIH. The

classic hallmark sign of IIH would be the presence of papilloedema on physical examination. Other common physical signs include peripheral visual field loss and sixth cranial nerve palsy.

Important evaluations in IIH include neuroimaging to exclude secondary causes, lumbar puncture to detect elevated opening pressure, and proper ophthalmology assessment. Individuals with IIH can potentially develop permanent vision loss.

Treating the underlying cause (if found) is the key management for IIH in order to preserve vision and ease the headache. Any medications which may potentially cause or worsen the IIH should be discontinued. Acetazolamide and topiramate have been used in the medical management of IIH. Surgical treatments include optic nerve sheath fenestration and cerebrospinal fluid shunting procedures. Serial lumbar punctures are no longer recommended in the routine management of IIH. Patients with IIH and body mass index of 30 kg/m

REFERENCES

Hoffmann, J., Mollan, S. P., Paemeleire, K., Lampl, C., Jensen, R. H., & Sinclair, A. J. (2018). European Headache Federation guideline on idiopathic intracranial hypertension The Journal of Headache and Pain, 19

Lee, A. G., & Wall, M. (2015). Idiopathic intracranial hypertension (pseudotumor cerebri): Clinical features and diagnosis. UpToDate. Retrieved May 16, 2020, from https://www.uptodate.com/contents/idiopathicintracranial-hypertension-pseudotumor-cerebri-clinical-features-anddiagnosis?search=idiopathic%20intracranial%20hypertension&source= search_result&selectedTitle=1~150&usage_type=default&display_rank=1

Lee, A. G., & Wall, M. (2020). Idiopathic intracranial hypertension (pseudotumor cerebri): Epidemiology and pathogenesis. UpToDate. Retrieved May 13, 2020, from https://www.uptodate.com/contents/idiopathicintracranial-hypertension-pseudotumor-cerebri-epidemiologyand-pathogenesis?search=idiopathic%20intracranial%20 hypertension&source=search_result&selectedTitle=3~150&usage_ type=default&display_rank=3

Mollan, S. P., Davies, B., Silver, N. C., Shaw, S., Mallucci, C. L., Wakerley, B. R., Krishnan, A., Chavda, S. V., Ramalingam, S., Edwards, J., Hemmings, K., Williamson, M., Burdon, M. A., Hassan-Smith, G., Digre, K., Liu, G. T., Jensen, R. H., & Sinclair, A. J. (2018). Idiopathic intracranial hypertension: consensus guidelines on management. Journal of Neurology, Neurosurgery & Psychiatry, 89(10), 1088–1100. https://doi.org/10.1136/ jnnp-2017-317440

Wall, M., & Lee, A. G. (2020). Idiopathic intracranial hypertension (pseudotumor cerebri): Prognosis and treatment. UpToDate. Retrieved May 13, 2020, from https:// www.uptodate.com/contents/idiopathic-intracranial-hypertensionpseudotumor-cerebri-prognosis-and-treatment

CASE 4

32-year-old man with one week of headache

This was another patient which a trainee of mine consulted me about. A 32-year-old man came to our clinic for headache of one week’s duration. He was prescribed an analgesic and told to return for followup if the headache did not get better. He went out of town for work purposes for a week and then turned up again a week after that at our hospital emergency department for his headache. He was told to come for follow-up at our clinic. His headache was already of three weeks’ duration then. The doctor attending to him consulted me at this point. The doctor reported that the headache was not severe and there were no symptoms of raised intracranial pressure. She also reported that examination of the central nervous system was normal, including the vision and fundoscopy.

Again, I proceeded to take my own history. As my trainee was a very senior medical officer with a lot of experience and most of the basic history had already been reported to me, I proceeded to ask very specific questions. The first question I asked was whether he had headaches previously, to which he replied he almost never had any headaches before.

I asked him to tell me what happened after he saw us for the first time in this clinic (the consultation was done in Cantonese). He said he and his crew (they were painters and carpenters) were travelling in a van

to Taiping to do a job. When they arrived and he was getting out of the van, he lost consciousness and the next thing he knew was that he was in Taiping Hospital. An X-ray of his head was done. He was told it was normal and he was discharged the day after.

I asked whether his friends had said anything about his loss of consciousness, such as if he had been stiff or shaking. He said his colleagues had told him that he was stiff. To me, this sounded like an epileptic seizure.

I then asked what his vision was like. He replied that when he was driving on the highway, he could not clearly see the (Bahasa Malaysia for signboard). I then suspected he had a space-occupying lesion (SOL) in his sub-occipital lobe. The next question was what was the cause of the SOL?

I noticed that he had a few strands of his hair tied in a small ponytail and that his hair had brown highlights. When I asked my medical officer about the patient’s sexual orientation, I was told he was married with two children. When I asked about illicit drugs, the doctor told me he had denied taking drugs. He admitted to having visited sex workers but the last occasion was more than three years ago. In any case, I asked my medical officer to get informed consent to do an HIV screen, to which the patient agreed.

I asked for an immediate computed tomography (CT) scan of the brain. The doctor told me that the radiology medical officer had initially refused to do the CT scan, saying that imaging results from our clinic’s orders for CT scans were usually negative. Fortunately, the doctor insisted and it was done.

The CT scan showed a ring-enhancing lesion in the left sub-occipital lobe and his HIV test was positive.

This patient was treated with anti-retroviral agents. He was still being followed up by the same doctor and remained well when seen five years after the onset of his headache.

LEARNING POINTS

1. The first red flag is the new onset of headache at an older age. Tension headaches and migraines are problems of the young and the onset is usually at a much younger age, beginning in the late teens even.

2. A persistent headache though not severe should not be dismissed as insignificant.

3. A thorough history is very important.

4. If there are no pointers, ask and test each cranial nerve one by one.

5. When ordering tests, state all the relevant findings so that the imaging department staff will have no reason to refuse to do the test. It will also help them to interpret the images better.

BACKGROUND INFORMATION

The prevalence of primary headache is high among adults aged 30–40 years old, about 7% in males and 24% in females. However, the onset of primary headaches such as migraine, tension headache and cluster headache are often traced back to their childhood, adolescence or early 20s. Studies have shown that migraines occur even among pre-adolescent children aged 5–12 years old. The prevalence was higher among adolescents, around 12–13%.

In this case, the patient had a ring-enhancing lesion in the brain with underlying HIV. Causes of ring-enhancing lesion in the brain can be categorised into infectious (bacterial, fungal, parasitic infections), neoplastic (primary lymphoma of central nervous system, primary or metastatic brain tumour), inflammatory (multiple sclerosis, sarcoidosis, systemic lupus erythematosus) and vascular origins. In patients with HIV infection, the common considerations are cerebral toxoplasmosis, tuberculoma and primary lymphoma of the central nervous system (CNS). Rarely, brain abscess and fungal granuloma are also implicated in HIV patients.

Patients with ring-enhancing lesions in the brain can present with seizures, visual disturbances, focal neurological deficits and raised intracranial pressure symptoms such as headache, vomiting and papilloedema. Headache is a common presentation of space-occupying lesions in the brain. Certain symptoms can give us a pointer to the specific location of the lesion in the brain. Lesions in the frontal lobe can give rise to behavioural changes, speech impairment (expressive aphasia) or loss of motor activity. Temporal lobe lesions are associated with loss of sense of smell, taste and hearing, language and speech disorders such as Wernicke’s aphasia, and forgetfulness. Parietal lobe lesions can cause loss of touch sensation, astereognosis, left-right disorientation and apraxia. In this case, the patient had a lesion in the occipital lobe where vision can be affected. Some of the visual problems associated with occipital lobe lesions are cortical blindness, visual hallucinations (lines or meshes of colour superimposed on the contralateral visual field), and Anton syndrome (inability to recognise an object by sight, resulting in confabulation).

Cerebral toxoplasmosis is the most common opportunistic infection affecting the central nervous system in HIV patients, especially among those who are severely immunocompromised and not receiving antiretroviral treatment. A local study done in 2001 by Nissapatorn et al. found that 51.2% of AIDS patients had positive toxoplasma serology. The most common symptom in this group of patients with toxoplasmic encephalitis was headache

REFERENCES

Abu-Arafeh, I., Razak, S., Sivaraman, B., & Graham, C. (2010). Prevalence of headache and migraine in children and adolescents: A systematic review of population-based studies. Developmental Medicine & Child Neurology, 52(12), 1088–1097. https://doi.org/10.1111/j.1469-8749.2010.03793.x

Ekbom, K., Svensson, D. A., Träff, H., & Waldenlind, E. (2002). Age at onset and sex ratio in cluster headache: Observations over three decades. Cephalalgia, 22(2), 94–100. https://doi.org/10.1046/j.14682982.2002.00318.x

Gandhi, R. T. (2019). Toxoplasmosis in patients with HIV. UpToDate. Retrieved May 5, 2020, from https://www.uptodate.com/contents/toxoplasmosisin-patients-with-hiv

Garg, R. K., & Sinha, M. K. (2010). Multiple ring-enhancing lesions of the brain. Journal of Postgraduate Medicine, 56(4), 307–316. https://doi. org/10.4103/0022-3859.70939

Hershey, A. D. (2012). Pediatric headache: Update on recent research. Headache, 52(2), 327–332. https://doi.org/10.1111/j.1526-4610.2011.02085.x

Huang, J. (2019). Overview of cerebral function. MSD Manual Professional Version. Retrieved May 5, 2020, from https://www.msdmanuals.com/ professional/neurologic-disorders/function-and-dysfunction-of-thecerebral-lobes/overview-of-cerebral-function

Koralnik, I. J. (2019). Approach to the patient with HIV and central nervous system lesions. UpToDate. Retrieved June 6, 2020, from https://www.uptodate. com/contents/approach-to-the-patient-with-hiv-and-central-nervoussystem-lesions

Newman, L. C., & Lipton, R. B. (1998). Emergency department evaluation of headache (2), 285–303. https://doi.org/10.1016/ s0733-8619(05)70065-7

Nissapatorn, V., Lee, C. K. C., & Khairul, A. A. (2003). Seroprevalence of toxoplasmosis among AIDS patients in Hospital Kuala Lumpur, 2001. Singapore Medical Journal

CASE 5

30-year-old woman with headache for 10 years

This discussion is not so much about diagnosis but on how to handle a consultation for a complaint of headache.

A 30-year-old bank clerk came to our clinic the first time with a complaint of headache for 10 years. Basically, the history was that of an on and off headache that was like a tight band around her head for the past 10 years. There were no alarm symptoms. The headache was not getting more severe, more frequent nor progressively worse. She usually took paracetamol or mefenamic acid and the headache resolved after two days. I did an examination and it was all normal.

So, the question is: why did she come to consult us after 10 years of headache? Also, why come to a public health facility when she is entitled as a bank staff to consult with their panel doctor? It has, after all, a much shorter waiting time compared to a public health clinic. Hence, I asked why she came for consultation after 10 years of headache. She said it was because a colleague of age who had similar headaches suddenly collapsed and died. I asked if she was afraid that the same thing would happen to her and that she could be having a brain tumour. She said yes. She also wondered if she should have a CT scan of her brain.

I reassured her that she did not have a tumour and that a CT scan was unnecessary. We just needed to treat her headache as usual. She looked relieved and seemed satisfied with my explanation. I asked her

why she was happy with my explanation and was not annoyed that I “refused” to do a CT scan for her. Her reply was: “You examined me so thoroughly—you looked into my eyes, tapped my knees (knee reflexes done)—that I am reassured. The other doctors never did any of the things you did.” She added, “I can live with my headache.”

LEARNING POINTS

1. When seeing a patient for headache for the first time, a complete neurological examination must be done. This includes vision, visual field, and fundus examination as usually even patients with positive signs here often will not complain of or mention it as one of their symptoms.

2. Being thorough gives the patient reassurance and confidence in your diagnosis, making it easier for them to accept that no unnecessary investigations are needed.

BACKGROUND INFORMATION

As mentioned before, the majority of headache cases constitute primary headache disorders such as migraine, tension headache and cluster headache. History taking and physical examination are crucial in the assessment of headaches. A series of red flag symptoms can help clinicians in the diagnosis of secondary headaches such as those due to brain tumours. One good example is the British Association for the Study of Headache (BASH) criteria. The red flag symptoms include thunderclap headache, new-onset headache in patients more than 50 years old or less than 10 years old, persistent morning headache with nausea, new-onset headache in patients with a history of cancer or HIV infection, progressive headache that worsens over weeks, positional headache, and atypical aura symptoms. Thorough clinical history can pinpoint the diagnosis of the headache, as demonstrated in a prospective study in 2003 where diagnoses were established via history alone in 150 paediatric patients with headache.

Clinical examination would be useful in identifying secondary causes of headache. Physical examination will usually be normal in primary headaches. Visual impairment or loss may suggest glaucoma, optic neuritis or a space-occupying lesion in the occipital lobe. Visual field defects may suggest a pituitary mass. Papilloedema may indicate raised intracranial pressure and brain tumour. Focal neurological deficits can be suggestive of space-occupying lesions such as brain tumours as well. Patients with pheochromocytoma can have headaches with physical signs such as tachycardia, sweatiness and hypertension.

A thorough history and focused clinical examination is usually adequate to exclude secondary causes of headache

REFERENCES

Ahmed, F. (2012). Headache disorders: Differentiating and managing the common subtypes. (3), 124–132. https://doi. org/10.1177/2049463712459691

British Association for the Study of Headache. (2010). Guidelines for all healthcare professionals in the diagnosis and management of migraine, tension-type headache, cluster headache, medication-overuse headache (3rd ed., 1st revision). Retrieved May 12, 2020, from https://www.bash.org.uk

Dooley, J. M., Gordon, K. E., Wood, E. P., Camfield, C. S., & Camfield, P. R. (2003). The utility of the physical examination and investigations in the pediatric neurology consultation. (2), 96–99. https://doi.org/10.1016/s0887-8994(02)00494-0

Lee, V. M. E., Ang, L. L., Soon, D. T. L., Ong, J. J. Y., & Loh, V. W. K. (2018). The adult patient with headache Singapore Medical Journal, 59(8), 399–406. https://doi.org/10.11622/smedj.2018094

Wootton, R. J., Wippold II, F. J., & Whealy, M. A. (2020). Evaluation of headache in adults. UpToDate. Retrieved June 7, 2020, from https://www.uptodate. com/contents/evaluation-of-headache-in-adults

CASE 6

40-year-old woman with a demand for an

Again, this case is not about a diagnostic problem but about handling a patient’s demand for investigations.

This 40-year-old housewife walked quite angrily into my consultation room and before she sat down, said, “I want a CT scan for my headache.

I sat her down and said, “Okay, let me ask you a few questions first.” I proceeded to take the history and did a physical examination. She had been having the headache for the last two weeks and seemed very distressed by it. She had some insomnia. When I asked about her psychological and social history, she revealed that her husband was an alcoholic and when he was angry, he threw pots and pans and raised a ruckus. This was causing her stress and embarrassment because their neighbours could hear them. She had three children in their early teens. However, her husband had not physically abused her or the children. There were no alarm symptoms or red flags to suggest any space-occupying lesion. Her blood pressure was 142/92 mmHg and all other examinations were normal.

I informed her that except for her blood pressure, which was a little bit high, she did not have a tumour. I also informed her that a CT scan of the brain (with contrast) would be very costly then. Knowing that she was not financially well-off, I proposed that we wait another two weeks

to recheck her blood pressure and reassess her headache. I informed her that if her headache persisted, we could consider doing the CT scan then. I also gave her advice on how to handle her husband’s outbursts.

She returned two weeks later feeling better. Her headache was better even without analgesics and she was less stressed by her husband’s behaviour. Her BP was 144/92 mmHg and I informed her about treating her hypertension.

This patient remained well and was my follow-up patient for 20 years. After her husband passed away, she coped financially by babysitting to support herself. Her children, who have now grown up, are doing well with children of their own. During one of the follow-ups, I asked if she was glad that we did not proceed to do the CT scan, to which she agreed that she was.

LEARNING POINTS

1. Again, take a full history and do a complete physical examination. You need to do this for the patient to accept your explanation that the headache

2. Although the patient wanted a CT scan which would have been easy for us to order, we need to understand the psychosocial background of the patient.

3. Although this was a new-onset headache in an older individual, a delay of two weeks for imaging would not have been a big issue since the complete neurological examination was normal and emergency conditions such as meningitis and subarachnoid haemorrhage had been ruled out. This would be true even in the case of a space-occupying lesion, as long as there is no evidence of raised intracranial pressure (hence the importance of a fundus examination). We were also using time as a diagnostic tool here (in this case, confirming the original diagnosis of a non-space occupying lesion). Time as a diagnostic tool is often used in primary care, especially in early presentation of disease.

BACKGROUND INFORMATION

Secondary headache due to brain tumour is always a concern for many patients. Symptoms of brain tumour are rarely confined to headache alone. Headaches due to brain tumours usually occur with other symptoms as well. Also, headache may not be the initial presenting symptom for brain tumour, accounting for half or less of initial presenting complaints. Nevertheless, headaches do commonly occur during the course of the disease in cases of brain tumour. Headache due to brain tumour can be a result of raised intracranial pressure, mass effect of the tumour itself or haemorrhage from the tumour.

According to the International Classification of Headache Disorders (ICHD) by the International Headache Society (IHS), brain tumour headaches can be classically described as “localised, progressive, worse in the morning, aggravated by coughing or bending forward, develops in temporal relation to the neoplasm, and resolves within successful treatment of neoplasm”. However, there are also arguments that brain tumour headaches do not commonly present with the criteria outlined by the IHS. The location of the headache also does not necessarily correlate with the location of the tumour. Literature has also described brain tumour headaches that are non-specific and varied in presentation.

Based on the American College of Radiology guidelines, urgent imaging with CT scan or MRI is recommended for headache under some conditions: thunderclap headache, headache with papilloedema, new or progressive headache with red flags (e.g., subacute head trauma, neurologic deficit, cancer, immunocompromise, pregnancy, age ≥ 50), and chronic headache with new features or progression. Patients with new-onset primary headache (such as migraine or tension headache) and chronic headache (stable with no progression) may be anxious and may want to have brain imaging done, but if they do not have any neurological deficit on examination, such imaging is not necessary based on the guidelines.

REFERENCES

Headache Classification Committee of the International Headache Society (IHS). (2018). The international classification of headache disorders, 3rd edition. Cephalalgia, 38(1), 1–211. https://doi. org/10.1177/0333102417738202

Loghin, M., & Levin, V. A. (2006). Headache related to brain tumors. Current Treatment Options in Neurology, 8(1):21–32. https://doi.org/10.1007/ s11940-996-0021-y

Nelson, S., & Taylor, L. P. (2014). Headaches in brain tumor patients: Primary or secondary? (4), 776–785. https://doi.org/10.1111/ head.12326

Pfund, Z., Szapáry, L., Jászberényi, O., Nagy, F., & Czopf, J. (1999). Headache in intracranial tumors. (9):787–790. https://doi. org/10.1046/j.1468-2982.1999.1909787.x

Valentinis, L., Tuniz, F., Valent, F., Mucchiut, M., Little, D., Skrap, M., Bergonzi, P., & Zanchin, G. (2010). Headache attributed to intracranial tumours: A prospective cohort study. (4), 389–398. https:// doi.org/10.1111/j.1468-2982.2009.01970.x

Whitehead, M. T., Cardenas, A. M., Corey, A. S., Policeni, B., Burns, J., Chakraborty, S., Crowley, R. W., Jabbour, P., Ledbetter, L. N., Lee, R. K., Pannell, J. S., Pollock, J. M., Powers, W. J., Setzen, G., Shih, R. Y., Subramaniam, R. M., Utukuri, P. S., & Bykowski, J. for the Expert Panel on Neurologic Imaging. (2019). ACR Appropriateness Criteria® headache (11S), S364–S377. https://doi.org/10.1016/j.jacr.2019.05.030

CASE 7

18-year-old man with new-onset headache

I saw this case together with my medical officer. This 18-year-old man presented to us with an intermittent headache for the past four days. While he did not specifically say it was worse in the morning, when I probed further, he said that he noticed the headaches were more frequent in the morning. He had never had such headaches before. There was no vomiting. He did not report any other neurological symptoms such as blurring of vision or weakness. This patient also had no prior significant medical issues.

What struck us was the absence of secondary sexual characteristics in this patient. There was only minimal pubic and axillary hair along with small testes. He also had short stature (height of 142 cm). Neurological examination was unremarkable. There was no visual field loss. We were unable to get a good view of the fundus due to constricted pupils.

My medical officer consulted an endocrinologist for the case as we were concerned about a pituitary tumour. She was told off for referring without doing any hormonal blood test first. The patient was asked to come to the endocrine clinic the following week with hormonal studies done before the appointment.

However, we decided to proceed with an urgent CT scan of the brain on the same day. The CT scan revealed a hyperdense suprasellar

lesion which was suggestive of craniopharyngioma. We referred the case to the neurosurgical team, and the patient was admitted to the ward the same day.

The patient subsequently went through an operation to remove the tumour.

LEARNING POINTS

1. The characteristic of the headache is essential to gauge the likely cause. The fact that this headache was of new-onset with early morning pattern should raise an alarm bell.

2. When we take history, we should always strive to clarify the finer points. In this case, the patient did not come to us with a classic textbook description of early morning headache upon waking up associated with vomiting (suggestive of raised intracranial pressure). If we had asked too narrowly whether he had early morning headache in a close-ended manner, the patient might have said no as he was only experiencing more headaches in the morning, not just upon waking up. This piece of history is an important determinant to trigger red flags about possible raised intracranial pressure.

3. In this case, the secondary sexual characteristics were already absent with the presence of short stature. These obvious clinical signs, coupled with the history of headache, point towards more sinister causes such as brain tumour.

4. It is important to maintain a critical mind and not be influenced by other people’s management plan. We would be clearer about the patient’s condition as we are the ones seeing the patient face-toface. Sometimes, it may be difficult for the specialist team to whom we make a referral, to grasp the exact situation, depending on what information we provide to them. If we were to be content with asking the patient to come back another time, we would be passing the buck to others at the cost of a delayed diagnosis.

BACKGROUND INFORMATION

Craniopharyngioma is an uncommon benign, slow-growing tumour that arises along the pituitary stalk in the suprasellar region close to the optic chiasm. The incidence of craniopharyngioma in Asian countries is estimated to be higher at 0.24 to 0.53 per 100,000 population compared to Western countries (0.13 per 100,000). Bimodal age distribution has been observed in craniopharyngioma with two peaks: 5 to 14 years old and 50 to 75 years old.

Patients with craniopharyngioma usually present with a gradual onset of symptoms, which make early diagnosis difficult. The common symptoms include neurological (headache, visual impairment) and endocrine features (growth retardation, delayed puberty, diabetes insipidus). In a study of 51 patients with craniopharyngioma, 69% had headache before the diagnosis of a tumour with a median of 61 days of headache before diagnosis. The type of headache varied from migraine without aura (59%) to tension-type (22%) and migraine with aura (4%). A previous study also found that 62% of children with brain tumour of any kind experienced chronic or frequent headaches before diagnosis. Hence, we should exercise caution when assessing headaches in paediatric and adolescent patients.

Diagnosing brain tumours at the early stage is a challenge. One study showed that children and young adults with intracranial tumours presented twice more commonly with non-localising symptoms (lethargy, headache, fatigue, drowsiness, loss of appetite, and irritability) than focal neurological signs (cranial nerve palsies and visual impairment). In addition, only one third of patients with raised intracranial pressure reported that headaches were worse on waking up. The typical headache characteristic associated with brain tumours reported in the literature was non-specific but constant or near-constant with progressive deterioration. Other clues that may help to suggest raised intracranial pressure are headache aggravated by straining, bending forward, coughing, and physical activity.

The mainstay of treatment for craniopharyngioma is the total or subtotal excision of the tumour, depending on the degree of invasion into adjacent structures. The five-year survival rate for craniopharyngioma was good at 80% with children generally doing better.

REFERENCES

Bunin, G. R., Surawicz, T. S., Witman, P. A., Preston-Martin, S., Davis, F., & Bruner, J. M. (1998). The descriptive epidemiology of craniopharyngioma.

Journal of Neurosurgery (4), 547–551. https://doi.org/10.3171/ jns.1998.89.4.0547

Chu, T. P. C., Shah, A., Walker, D., & Coleman, M. P. (2015). Pattern of symptoms and signs of primary intracranial tumours in children and young adults: A record linkage study. (12), 1115-1122. https://doi.org/10.1136/archdischild-2014-307578

Dho, Y. S., Jung, K. W., Ha, J., Seo, Y., Park, C. K., Won, Y. J., & Yoo, H. (2017). An updated nationwide epidemiology of primary brain tumors in Republic of Korea, 2013. (1), 16–23. https://doi.org/10.14791/btrt.2017.5.1.16

Forsyth, P. A., & Posner, J. B. (1993). Headaches in patients with brain tumors: A study of 111 patients. (9), 1678–1683. https://doi. org/10.1212/wnl.43.9.1678

Garnett, M. R., Puget, S., Grill, J., & Sainte-Rose, C. (2007). Craniopharyngioma.  , 18. https://doi. org/10.1186/1750-1172-2-18

Khan, R. B., Merchant, T. E., Boop, F. A, Sanford, R. A., Ledet, D., Onar-Thomas, A., & Kun, L. E. (2013). Headaches in children with craniopharyngioma. Journal of Child Neurology, 28(12), 1622–1625. https:// doi.org/10.1177/0883073812464817

Kuratsu, J., & Ushio, Y. (1996). Epidemiological study of primary intracranial tumors in childhood. A population-based survey in Kumamoto Prefecture, Japan. Pediatric Neurosurgery, 25(5), 240–246. https://doi. org/10.1159/000121132

Makino, K., Nakamura, H., Yano, S., Kuratsu, J., & Kumamoto Brain Tumor Group. (2010). Population-based epidemiological study of primary intracranial tumors in childhood. Child’s Nervous System, 26(8), 1029–1034.

https://doi.org/10.1007/s00381-010-1126-x

Mollan, S. P., Spitzer, D., & Nicholl, D. J. (2018). Raised intracranial pressure in those presenting with headache. BMJ, 363, k3252. https://doi. org/10.1136/bmj.k3252

The Childhood Brain Tumor Consortium, & Gilles, F. H. (1991). The epidemiology of headache among children with brain tumor. Headache in children with brain tumors. (1), 31–46.

https://doi.org/10.1007/BF