Menkes disease: case report of an uncommon presentation with white matter lesions

Abstract

-Menkes disease is a rare X-linked disorder related to a defect in the copper metabolism. According to the current literature, the most frequent neuroimaging findings are cortical atrophy, chronic subdural effusion or hygroma, and vascular abnormalities. White matter lesions may be present before other features of the disease and may evolve into atrophy. We hereby report a case of Menkes disease with typical history and progression, and an early phase imaging study with important white matter abnormalities, which could have lead to diagnostic difficulties.KEY WORDS: Menkes disease, neuroimaging. Doença de Menkes: relato de caso com comprometimento da substância branca cerebral RESUMO -A doença de Menkes é patologia ligada ao X relacionada a defeito no metabolismo de cobre. De acordo com literatura atual, os achados mais frequentes em exames de neuroimagem são atrofia cortical, efusão de subdural crônica ou higroma, e alterações vasculares. Lesões em substância branca podem estar presentes antes das alterações clinicas da doença e podem evoluir para atrofia. Apresentamos relato de caso da doença de Menkes com história e evolução típica, descrevendo os achados de neuroimagem na fase inicial da doença que revelaram sinais importantes de comprometimento da substância branca que poderiam conduzir a dúvidas diagnósticas. PALAVRAS-CHAVE: doença de Menkes, neuroimagem.

Menkes disease: A case report

“…The lack of copper may result in these changes, as copper is a key cofactor in the mitochondrial respiratory chain 18,19 . The treatment options are limited because the brain-blood barrier acts as an obstacle to copper delivery without the transporter protein 1,2,5,16,17 . Also, copper is poorly absorbed by the gastrointestinal tract, without attaining an adequate serum level, mainly as copper histidine by parenteral reposition (200-1000 µg/day), might be beneficial in some cases when given early in the course of the disease 2,5,16,17 .…”

Menkes' disease: case report

“…MRI abnormalities correspond to neuronal loss and range from isolated cerebral or cerebellar atrophy or both combinations, subdural collections and cerebral hemorrhage [15][16][17] . Those evolve over time and are associated with a poor prognosis 15,16 .…”

“…Those evolve over time and are associated with a poor prognosis 15,16 . Vessel-wall compromise might be the pathological change responsible the majority of these abnormalities, especially when subdural and epidural collections are found [17][18][19][20] . Severe atrophy and subdural and epidural collections are the end-stage abnormalities found late in the evolution of the disease, such as in our case.…”

“…The treatment options are limited because the brain-blood barrier acts as an obstacle to copper delivery without the transporter protein 1,2,5,16,17 . Also, copper is poorly absorbed by the gastrointestinal tract, without attaining an adequate serum level, mainly as copper histidine by parenteral reposition (200-1000 µg/day), might be beneficial in some cases when given early in the course of the disease 2,5,16,17 .…”

“…Also, copper is poorly absorbed by the gastrointestinal tract, without attaining an adequate serum level, mainly as copper histidine by parenteral reposition (200-1000 µg/day), might be beneficial in some cases when given early in the course of the disease 2,5,16,17 . There is no evidence, at present, of benefit of parenteral administration of copper associated with Dpenicillamine or vitamin E 5 .…”