Alstrom syndrome differential diagnosis
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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]
Differentiating Alstrom syndrome from other Diseases
Alstrom syndrome is a ciliopathy. It should be differentiated from the following disorders:
Bardet-Biedl syndrome
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]
References
- ↑ Badano, Jose L. (September 2006). "The Ciliopathies : An Emerging Class of Human Genetic Disorders". Annual Review of Genomics and Human Genetics. 7: 125–148. doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803. Retrieved 2008-06-15. Unknown parameter
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