Adult dystonic lipidosis

Abstract

A 43-year-old man presented with splenomegaly and a 20-year history of a neurologic disorder that included vertical supranuclear ophthalmoplegia, mild dementia, and a movement disorder. Adult dystonic lipidosis was diagnosed from the clinical picture and demonstration of foamy and sea-blue histiocytes in bone marrow. Ultrastructural patterns in cytolysosomes suggested accumulation of neutral fat and phospholipids. Liver content of bis-(monoacylglycerol) phosphate was increased, probably because the number of lysosomes had increased. Sphingomyelinase activity was normal in cultured skin fibroblasts. Juvenile and adult dystonic lipidosis form a clinically, histologically, and biochemically distinct neurovisceral storage disease that differs from Niemann-Pick disease.

Hemidystonia: a report of 22 patients and a review of the literature.

“…Sea-Blue histocytes may be seen on bone marrow biopsy.3334 It is possible that these two patients will eventually develop generalised dystonia, a more typical manifestation of the storage disorders. [35][36][37][38] Patient 11 presented with hemidystonia, peripheral neuropathy, and fasciculations suggesting motor neuron disease. His family history was unremarkable.…”

Niemann-Pick disease type C: Two cases and an update

“…Movement disorders, including dystonia, chorea, athetosis, and parkinsonism, can be part of the neurologic picture. 9,13,[16][17][18][19] Age of onset may determine the presence and frequency of certain clinical features. In a series of 20 pre-teenage cases with symptomatic narcolepsy with cataplexy, 12 patients had NPC.…”

“…Adult variants additionally include psychosis and dementia. 2 Clinical entities such as juvenile dystonic lipidosis, 6 juvenile NiemannPick disease, 7 DAF (downgaze paresis, ataxia, foam cells) syndrome, 8 adult dystonic lipidosis, 9 and maladie de Neville 10 describing varying degrees of VSO, ataxia, dystonia, dementia, and organomegaly were eventually all recognized to represent NPC. 2 We describe two juvenile-onset cases, one with the classic phenotype and another with a protracted course and atypical features, to illustrate the clinical heterogeneity in the juvenile-onset category and discuss the latest developments in the genetics, biochemistry, diagnosis, and treatment of NPC.…”

Morbus Niemann-Pick Typ C

“…In der Literatur wurden mindestens 30 Patienten mit einer Erstmanifestation nach dem 18. Lebensjahr beschrieben [6,8,12,16,18,19,26]. Das mittlere Alter der ersten Symptome lag bei rund 30 Jahren (Spanne 18-59 Jahre).…”