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Alstrom syndrome
Definition:
an inherited disease characterized by progressive blindness, juvenile onset diabetes mellitus, obesity, deafness, and normal mental capacity.

Alternative Names:
Alstrom-Hallgren syndrome; Alstroem's retino-otodiabetic syndrome

Causes, incidence, and risk factors:

This is an autosomal recessive, inherited disorder. It is extremely rare. The syndrome has a higher incidence in Holland and Sweden.
Symptoms:
Signs and tests:
  • The eyes are examined by an ophthalmologist (standard ophthalmic examination).
  • Blood tests, such as a chem-20, may show an elevation of serum triglycerides and hyperglycemia (high blood sugar).
  • Urine tests may show an increase in uric acid levels.
Treatment:
There is no treatment for this syndrome.
Expectations (prognosis):

Permanent blindness is likely to develop.
Complications:

Complications related to diabetes mellitus can occur.
Calling your health care provider:

Call your health care provider if you suspect symptoms of diabetes mellitus such as increased thirst and urination. Call as soon as you suspect that your infant or child cannot see or hear normally.
Review Date: 6/16/2001
Reviewed By: Elizabeth Hait, M.D., Department of Pediatrics, Rainbow Babies and Children’s Hospital, Case Western Reserve University, Cleveland, OH. Review provided by VeriMed Healthcare Network.
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