Hemochromatosis in children

Leukodystrophy, also known as leukodystrophy, is a group of progressive hereditary sphingomyelin metabolic disorders that primarily violate myelin sheath metabolism. This group of diseases includes globoid cell leukodystrophy (GLD), metachromatic leukodystrophy (MLD), adrenal leukodystrophy (ALD), Pelizaeus-Merzbacher disease, central nervous system Spongiform degeneration and Alexander disease. Metachromatic leukodystrophy (MLD), also known as sulfatide lipidosis, is also a type of cerebral lipid deposition disease, which is caused by a disorder of myelin lipid metabolism. It is characterized by cerebroside sulfate in the body Accumulation. It is an autosomal recessive inheritance, and the lesion gene is located at 22q14. It is caused by a large amount of sulfur fats deposited in white matter due to the lack of arylsulfatase A (ASA). The sick child gradually appeared walking difficulty with limb weakness, ataxia or limb rigidity, progressive dementia, optic nerve atrophy, disappearance of deep tendon reflexes, prolonged nerve conduction time, and increased cerebrospinal fluid protein. A small number of cases occur in the age of 3 to 10 years (juvenile type) or in adulthood (adult type). Diagnosis is based on a 40nmol / (hmiddot; ml) reduction in leukocyte sulfatase A activity or genetic diagnosis.