Clinical presentation after birth: Paterson and Carmichael first described the disorder in 1924. Depending on different pathologic and clinical features we can also distinguish: early, acute onset, early, gradual onset and late onset. The neurological symptoms includes symmetrical degeneration of caudate nucleus, putamen and sometimes the globus pallidus are the main neurologic finding, resulting in (mostly) extrapyramidal signs,,:
Associated pathologies: Similar neurological symptoms can also occur in Leber syndrome (Leber hereditary optic neuropathy), Leigh syndrome (subacute necrotizing encephalomyelopathy), familial dystonia and choreoathetosis and Huntington's chorea; this could suggest a possible origin of the pathology in a mitochondrial DNA mutation. There is also a case of associated congenital adrenal hypoplasia and acute bilateral infantile striatal necrosis.
Differential diagnosis: De Morsier syndrome (septooptic dysplasia) or ventriculomegaly (just for beginners).
Prognosis: It depends on the severity of the neurological symptoms but an important rehabilitation is always needed.
Management: If detected early, pregnancy termination can be offered, otherwise an important rehabilitation is always needed. In children corticosteroid therapy can be attemptedand there is some research using monoamine oxidase inhibitors.
This case was originally posted at /www.ilfeto.it/ by Artemisia medical center