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