Psychosis as a presentation of physical disease in adolescence: A case of Niemann-Pick disease, type C

John V. Campo, Robert Stowe, Greg Slomka, Debra Byler, Barbara Gracious

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

This study reports the case of a 16-year-old male who presented with a history of prominent psychotic symptoms and paranoid delusions which overshadowed subtle signs and symptoms of cognitive and motor dysfunction. Intensive neurobehavioral and biochemical investigations eventually led to the diagnosis of Niemann-Pick disease, type C (NPC), an autosomal recessively inherited storage disease that is associated with the accumulation of cholesterol in lysosomes and difficulties in the processing of exogenously derived cholesterol. Clues to the presence of a neurological disorder included: a history of insidiously declining academic and athletic performance which antedated the onset of psychosis; abnormalities on mental status examination, including psychomotor slowing, memory difficulties, and impairment of higher attentional functions; physical findings of subtle downgaze impairment, mild symmetrical hyperreflexia, and lower-extremity hypertonia with flexor plantar responses, marked impairment of upper-extremity rapid alternating movements, action tremor, and bilateral posturing with stress gait maneuvers. This case demonstrates the importance of careful and persistent neurodiagnostic evaluation in adolescents with psychotic presentations, particularly when cognitive and motor deterioration is suspected, and even when head CT and MRI scans are judged to be normal.

Original languageEnglish (US)
Pages (from-to)126-129
Number of pages4
JournalDevelopmental Medicine and Child Neurology
Volume40
Issue number2
StatePublished - Feb 21 1998

Fingerprint

Type C Niemann-Pick Disease
Psychotic Disorders
Cholesterol
Athletic Performance
Abnormal Reflexes
Delusions
Tremor
Lysosomes
Nervous System Diseases
Gait
Upper Extremity
Signs and Symptoms
Lower Extremity
Head
Magnetic Resonance Imaging

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

Campo, John V. ; Stowe, Robert ; Slomka, Greg ; Byler, Debra ; Gracious, Barbara. / Psychosis as a presentation of physical disease in adolescence : A case of Niemann-Pick disease, type C. In: Developmental Medicine and Child Neurology. 1998 ; Vol. 40, No. 2. pp. 126-129.
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Psychosis as a presentation of physical disease in adolescence : A case of Niemann-Pick disease, type C. / Campo, John V.; Stowe, Robert; Slomka, Greg; Byler, Debra; Gracious, Barbara.

In: Developmental Medicine and Child Neurology, Vol. 40, No. 2, 21.02.1998, p. 126-129.

Research output: Contribution to journalArticle

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