[Presentation of Niemann-Pick type C disease with psychiatric disturbance in an adult].
BACKGROUND
Niemann-Pick Type C disease (NPC) is an autosomal recessive neurovisceral lysosomal lipid storage disorder.


METHODS
A 31-year-old right-handed woman had suffered from schizophrenia for 13 years. At 25 years of age, she developed a gait disorder with a static and kinetic cerebellar syndrome, dysarthria, vertical supranuclear gaze palsy and cognitive impairment. Brain MRI was normal. Abdominal ultrasonography was performed because of hypercholesterolemia and elevated transaminases and revealed hepatosplenomegaly, which in conjunction with other signs and symptoms, suggested the diagnosis of NPC. The diagnosis was confirmed by demonstration of lysosomal storage of unesterified cholesterol (filipin staining) and of a reduced rate of LDL-induced cholesterol esterification. Implication of the NPC1 gene was assessed by genetic complementation analysis.


CONCLUSIONS
The phenotypic presentation of NPC is remarkably variable. The rarer adult-onset form has a slowly progressive course. Psychotic manifestations are often prominent and may precede neurologic symptoms. Exposure to neuroleptics delays the diagnosis of NPC.


CONCLUSIONS
Psychotic manifestations associated with cerebellar syndrome, vertical supranuclear gaze palsy, and splenomegaly are very suggestive of NPC disease which can be reliably diagnosed on cultured skin fibroblasts by filipin staining.
Tyvaert
L
L
Clinique Neurologique, Service de Neurologie D, rue du Professeur-Emile-Laine, 59037 Lille cedex, France.
Stojkovic
T
T
Cuisset
J-M
JM
Vanier
M-T
MT
Turpin
J-C
JC
De Sèze
J
J
Vermersch
P
P
D000328:Adult; D000900:Anti-Bacterial Agents; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D005372:Filipin; D006801:Humans; D008111:Liver Function Tests; D008279:Magnetic Resonance Imaging; D001523:Mental Disorders / Q000209:etiology / Q000523:psychology*; D009542:Niemann-Pick Diseases / Q000150:complications / Q000175:diagnosis / Q000523:psychology*; D012559:Schizophrenia / Q000150:complications
D000900:Anti-Bacterial Agents; D005372:Filipin