Amaurocichla seed idiocy

Amaurocichla seed idiocy (gr. amauros - dark, blind) - hereditary progressive disease that leads to profound mental retardation and death. In the pathogenesis: a disorder of lipid metabolism with the accumulation of lipids in the cell cortex-the brain's basal ganglia and cerebellum. Typical "bloat" ganglion cells and their processes with subsequent disintegration. Degenerative process applies to netted shell eyes.
Describes the following forms mavromichali seed of idiocy. Congenital is the rarest. Children form [Tay Sachs (W. Tau, W. Sachs)] is detected during the first year of life; characterized by the triad of symptoms: 1) musculoskeletal disorders; 2) increasing blindness and 3) progressive dementia; in addition, there are seizures, vasomotor disorders, diminished hearing, giperakuzia; the most typical cherry-red spot on the fundus and the atrophy of the optic nerve. Death occurs within 1-1,5 years after the onset of illness with symptoms of insanity. Late children amaurocichla seed idiocy [Bolhovskogo (M Bielschowsky)] begins at the age of 3-4 years. Youth [Spellmeyer - Vogt (W. Spielmeyer, O. Vogt)] begins at the age from 6 up to 14-16 years, death at the age of 18-20 years.
Late [Kutsa (N. Kufs)] occur in adulthood, has the most protracted course; it is a cherry-red spot on the retina.
Diagnosis mavromichali seed of idiocy is based on the triad of symptoms and catastrophic period. Causal therapy is not available. The differential diagnosis of a disease, Niemann - pick (see Niemann-pick disease, Gaucher disease (see Gaucher disease), gargoylism (see), oligophrenia (see).