Sphingolipidoses

Sphingolipidoses are triggered by the X-linked inherited Fabry disease, an autosomal recessive inherited genes metabolic diseases that manifest themselves primarily in the central nervous system. They belong to the group of lysosomal storage diseases. By lysosomal enzyme defects or deficits, but also by defects in the transport or activator proteins, there is a pathological intracellular accumulation of sphingolipids not degradable.

Common symptoms:

• Motor and mental retardation
• Enlargement of liver and kidney
• Often cherry-red macular spot

The metachromatic leukodystrophy and Krabbe leukodystrophy include demyelinating diseases, ie the signal behavior in MRI images is similar to other acquired demyelinating diseases such as multiple sclerosis, acute disseminated encephalomyelitis, Balo sclerosis, neuromyelitis optica, and progressive multifocal leukoencephalopathy.

In general, it is difficult, even in childhood disease leading to death.

Variants

• Lysosomal storage disease
• Disease in the Pediatrics