'Hallervorden-Spatz syndrome - infantile neuroaxonal dystrophy' complex: case report

Abstract

Case report of a 7 1/2-year-old girl considered as being normal until the age of 2 years. From then on she progressed with gait disturbance, mental deterioration, dystonic movements, convulsions and dysarthria. She died of bronchopneumonia one year later. CT scan showed hyperdensity at the putamen, with no signs of cerebral atrophy. Pathological examination disclosed an intense red coloration of the putamen and axonal "spheroids" at electron microscopy.

Síndrome de Hallervorden Spatz: achados na resonância magnética. Relato de caso

“…A revisão da literatura nacional mostra, até o presente momento, dez casos relatados sendo nove estudados com RM em que o diagnóstico foi realizado pela presença do sinal do "olho-de-tigre" 10,14 e um com tomografia computadorizada comprovado na necropsia 13 . O uso da RM é preconizado nos estudos recentes para o diagnóstico da HS 1,4-9,14 em que devem ser realizadas seqüências de longo tempo de repetição (TR), o que permite um realce das áreas de gliose associadas a lesão.…”

Roberto Melaragno's scientific contributions to Brazilian Neurology

“…In the area of movement disorders, he published articles on cerebellar ataxias, with one of the first descriptions of Pierre-Marie heredo-ataxia or spinocerebellar degeneration (today known as spinocerebellar ataxia or SCAS) in Brazil 9 (Figure 2). He also published case reports about myoclonic cerebellar dyssynergy, Hallervorden-Spatz syndrome, Parkinsonian disorders and dementia, and Parkinson disease, and was a pioneer in the use of levodopa in Brazil 11,13,16 . He was also the author of several case reports in general neurology, particularly in the…”