About The Medical Condition Infantile Sandhoff Disease

ClusterMed
  1. ClusterMed.info
  2. Medical Conditions
  3. I Illnesses And Diseases
  4. In
  5. Infantile Sandhoff Disease

Find the definition of the medical term Infantile Sandhoff Disease. Infantile Sandhoff Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Infantile Sandhoff Disease

Infantile Sandhoff Disease Medical Condition Defined & Explained
Infantile Sandhoff Disease Medical Condition

What's The Definition Of The Medical Condition Infantile Sandhoff Disease?

An autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A & B (see BETA-N-ACETYLHEXOSAMINIDASE) which leads to an accumulation of GM2 ganglioside and the sphingolipid globoside in neurons and other organs. Clinical manifestations resemble TAY-SACHS DISEASE, but the disease is not limited to Askenazi Jews and may feature hepatosplenomegaly. The infantile form presents in the first 4 months of life with psychomotor delay, hypotonia followed by spasticity, and cherry red spots in the macula. Rare juvenile and adult forms have been reported. (From Menkes, Textbook of Child Neurology, 5th ed, p92)

More Medical Conditions

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

Medical Conditions Definitions Of The Day