Schizophrenia and Niemann-Pick Disease - MBL Communications

Schizophrenia and Niemann-Pick Disease
Sami Richa, MD, Franck Baylé, MD, and Henri Loo, MD
ABSTRACT
The following is a case of Niemann-Pick disease (NPD) type B
associated with a psychiatric disorder. A 27-year-old male was
admitted to the hospital with Diagnostic and Statistical Manual
of Mental Disorders, Fourth Edition–Text Revision criteria for
paranoid schizophrenia. He was ameliorated after initiation
of treatment by amisulpiride 400 mg/day. Auditory hallucina-
tions, persecutory delusions, depersonalization, and derealisation
regressed and was able to work. He was followed up for >10 years.
The patient had typical history of NPD type B (hepatosplenomegaly
and pulmonary infiltrates) diagnosed at 3 years of age.
INTRODUCTION
Niemann-Pick disease (NPD) is an inborn error of lipids
metabolism. In types A and B, there is a clear deficiency of
sphingomyelinase, resulting in widespread lysosomal deposition
of sphingomyelin liquid crystals. The most common disorder
(type A) begins shortly after birth with hepatosplenomegaly,
failure to thrive, neurologic impairment, and early
death. The adult form (type B) is a relatively benign disorder
with hepatosplenomegaly and pulmonary infiltrates, and is
characterized by the sparing of brain involvement. 1
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Some authors report adult cases of NPD type B with neurologic
and/or psychiatric symptoms. Patients with neurologic
impairment (mental retardation, cerebellar ataxia, extrapyramidal
signs, or cherry red-spots) have intermediate forms between
type A and type B. Sometimes, brain storage is inapparent
(found at autopsy). Patients with psychiatric disorder and
with NPD, without any neurologic symptoms, are excessively
rare—only two cases 2,3 could be found in the literature. These
two cases most likely belong to type B and there could be a
chance association of schizophrenia and NPD.
NPD type C is a secondary cholesterol storage disorder
without sphingomyelinase deficiency. Neurologic signs are
often pointed out (juvenile form) and psychosis may be
the only clinical manifestation of this disease (adult form).
Hepatosplenomegaly is often mild. 1
Dr. Richa is psychiatrist at the Psychiatric Hospital of the Cross in Lebanon. Dr. Baylé is professeur des Universités-Praticien Hospitalier at Paris-Descartes University in France. Dr. Loo is professor at
Sainte-Anne Hospital at Paris-Descartes University.
Disclosure: The authors report no affiliation with or financial interest in any organization that may pose a conflict of interest.
Please direct all correspondence to: Sami Richa, MD, Hôpital Psychiatrique de la Croix, PO Box 60096, Jall-Eddib - Metn, Lebanon; Tel: 011-9613225960; Fax: 011-9611892700; E-mail: samiric@idm.net.lb.
© MBL Communications
FOCUS POINTS
CASE REPORT
Primary Psychiatry. 2009;16(3):31-32
• Niemann-Pick disease (NPD) could be associated with a
psychiatric disorder.
• Psychiatric symptoms without neurologic impairment may
be a manifestation of NPD.
• Psychiatric disorder found in NPD type B could be schizophrenia.
• The mechanisms underlying psychiatric disturbance are
unknown.
March 2009

S. Richa, F. Baylé, H. Loo
CASE REPORT
The following is a case report of NPD type B associated
with a psychiatric disorder. A 27-year-old male was
admitted to the hospital. He met Diagnostic and Statistical
Manual of Mental Disorders, Fourth Edition–Text Revision 4
criteria for paranoid schizophrenia. He had auditory hallucinations
and persecutory delusions. He also had feelings
of strong depersonnalization and derealization. Since 3 years
of age, he had magical thinking and ideas of reference and
had reduced his social activity. There were no neurologic
or intellectual impairments. He had no history of developmental
disorder. There was no drug abuse. The patient
had a typical history of NPD type B (hepatosplenomegaly
and pulmonary infiltrates) diagnosed at 3 years of age.
The sphingomyelinase activity in leucocyte extracts was at
0.10 µKat/Kg proteins (normal at 0.67±0.25). Computed
tomography scan and magnetic resonance imaging revealed
a slight ventricular enlargment. An electroencephalograph
indicated no abnormalities. There was no ocular abormality.
Motor nerves conduction velocities were normal.
He was ameliorated after initiation of treatment by amisulpiride
400 mg/day. Auditory hallucinations, persecutory
delusions, depersonnalization, and derealisation regressed
and he was able to work. The patient has been followed up
for >10 years. He worsened every time he discontinued
amisulpiride or reduced the posology of 400 mg/day; the
relapse was on the same mode, including delusions, hallucinations,
and behavioural disturbance.
This is the third case of NPD type B associated with a
psychiatric disorder, 3 the first which presented NPD before
schizophrenia. Hepatosplenomegaly had developped before
the onset of psychiatric symptoms. Complete exploration
of the central nervous system revealed no abnormality. The
mechanisms underlying psychiatric disturbance are unknown.
The authors of this case report could make no correlation
between brain damage and psychiatric symptoms.
CONCLUSION
Psychiatric symptoms without neurologic impairment may
be a manifestation of NPD (intermediate type AB) or a chance
association (type B). In this case presented, the presence of enzyme
protein in fibroblasts revealed an intermediate type AB. PP
REFERENCES
1. Spence MW, Callahan JW. Sphingomyelin-cholesterol lipidoses : The Niemann-Pick Group of Diseases. In:
Scriver C, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Diseases. 6th ed. New York,
NY: McGraw-Hill; 1989:1655-1676.
2. Dubois G, Mussini JM, Auclair M, et al. Adult sphingomyelinase deficiency: report of 2 patients who
initially presented with psychiatric disorders. Neurology. 1990;40(1):132-136.
3. Sogawa H, Horino K, Nakumara F, et al. Chronic Niemann-Pick disease with sphingomyelinase deficiency
in two brothers with mental retardation. Eur J Pediatr. 1978;128(4):235-240.
4. Diagnostic and Statistical Maual of Mental Disorders. 4th ed, text rev. Washington, DC: American
Psychiatric Association; 2000.
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