Clinical presentation after birth: Paterson and Carmichael first described the disorder in 1924[25]. Depending on different pathologic and clinical features we can also distinguish: early, acute onset[26], early, gradual onset[27] 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[28],[29],[30]:
[31]
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[32].
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 attempted[33]and there is some research using monoamine oxidase inhibitors[34].
References:
This case was originally posted at /www.ilfeto.it/ by Artemisia medical center