Clinical Improvement with DMSO Treatment in a Patient with Niemann‐Pick Disease (Type C)

Publisher Website
Google Scholar
Abstract
A girl aged 8 years and 10 months with Niemann‐Pick disease (type C) presented with severe psychomotor deterioration, frequent seizures and hepatosplenomegaly. A brain CT showed marked cortical atrophy and moderate ventricular dilatation. A bone marrow smear showed foamy cells. Enzyme studies using fibroblasts showed a partial deficiency of acid sphingo‐myelinase which became normalized by DMSO treatment in cultured fibroblasts. The patient has been treated with DMSO orally for the past two years. Clinically, she has shown slight improvement in response to her surroundings. However, the spleen and liver have decreased in size markedly and recently are not palpable under the costal margins. Seizure frequency has decreased despite a tapering off of one of the anticonvulsants. The EEG's show marked improvement because the fast theta wave has become predominant in background activities and spindles show a good morphological configuration. Cortical atrophy on the CT has not progressed during the two years of treatment. No side effects have been observed clinically or in laboratory studies. We interpret that DMSO treatment shows beneficial clinical effects in a Niemann‐Pick patient (type C).