Alstrom syndrome differential diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]; Raviteja Guddeti, M.B.B.S. [3]

Alstrom syndrome is a ciliopathy. It should be differentiated from the following disorders:

Bardet-Biedl syndrome shares some features of Alström syndrome. The major clinical features of BBS are:

• Rod-cone dystrophy
• Postaxial polydactyly
• Central obesity
• Cognitive impairment
• Hypogonadism and
• Renal dysfunction

A major difference between Alström syndrome and BBS is the timing of the onset of visual problems:

• In Alström syndrome, visual problems are usually apparent in the first two years of life; in BBS, the average age of onset of visual problems is 8.5 years.
• Polydactyly, which is common in BBS, has not been described in Alström syndrome.
• Cognitive impairment is well described in BBS, while in most persons with Alström syndrome intelligence is normal, but delays in early milestones have been reported.
• Other differences include the relative infrequency of hearing problems (~5%) and diabetes mellitus (5%-10%) in BBS compared with Alström syndrome. Mutations in at least 14 different genes are causative. Inheritance is autosomal recessive.

Other ciliopathies that should be differentiated from Alstrom syndrome include:

• Primary ciliary dyskinesia
• Polycystic kidney disease
• Polycystic liver disease
• Nephronophthisis
• Meckel-Gruber syndrome
• Biemond II syndrome
• Wolfram syndrome
• Cohen syndrome
• Sporadic infantile DCM
• Mitochondrial disorders
• Achromatopsia
• Leber congenital amaurosis
• Some forms of retinal degeneration^[1]

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