SHA24/025001

Presentation

• 20 obese male • Poor vision since childhood with reduced hearing

• Progressively worsening dyspnoea (NYHA 2-3) with leg swellings 3 months

• Normal parents and siblings

• Signs of biventricular failure • Nystagmus with bilateral reduced vision • Bilateral hearing impairment • Acanthosis nigricansExamination • Flat feet • Not dysmorphic with normal mental capacity

Investigations

• Normal CBC, renal, hepatic and thyroid functions with normal lipid profile

• Raised fasting glucose 6.5 with HbA1c 8.4% • pro-BNP 191 (range 0-19)

Obese DCM Retinal dystrophy Hearing loss Diabetic

Alstrom syndrome

800 cases reported so far 800 cases reported so far Estimated prevalence <1:100,000 Estimated prevalence <1:100,000

Homozygous mutation exon 8 of the ALMS1 gene for a small deletion defined as c.2151_2152delTA (not described before)

Summary • 20 year old obese male • Presented with dilated cardiomyopathy • Diagnosed Alstrom syndrome based on clinical and genetic data

• Managed conservatively with supportive care

Early in life: Visual disturbances DCM Hearing loss

Later: Obesity Diabetes Renal/Hepatic/Pulmonary Hypogonadotropic hypogonadism

The continuing failure to recognise Alstrรถm syndrome and further evidence of genetic homogeneity

Supportive treatment J Med Genet 2000;37:219 Follow-up

No disease is so rare that it does not deserve attention

The continuing failure to recognise Alstrรถm syndrome and further evidence of genetic homogeneity J Med Genet 2000;37:219

No disease is so rare that it does not deserve attention