Speech writing on Disturbance in study
Answers
Explanation:
Clinical Features.
Development during the first year is normal, but in the second year, developmental arrest and regression occur. Ataxia and speech disturbances also occur during the second year. Neurological deterioration is progressive. The appearance suggests an MPS: short stature, microcephaly, and facial dysmorphism. Retinal degeneration can occur as well and suggests a neuronal ceroid lipofuscinosis.
Diagnosis.
Sulfatase activity is deficient, but not absent, in cultured skin fibroblasts and leukocytes. If only arylsulfatase A is measured, an improper diagnosis of juvenile sulfatide lipidosis is a consideration because peripheral neuropathy is not present. The facial dysmorphism is not consistent, however, with either the infantile or the juvenile form of sulfatide lipidosis.
Management.
Treatment is supportive.