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[Cataplexy in type C Niemann-Pick disease]
Klinische Padiatrie
|March 1, 1997
Summary
Symptomatic cataplexy, a rare narcolepsy symptom, can occur in Niemann-Pick disease type C. Early onset and additional neurological signs suggest this rare diagnosis.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Cataplexy is typically associated with idiopathic narcolepsy.
- Symptomatic causes of cataplexy are uncommon.
Observation:
- A 4-year-old girl presented with recurrent muscle tone loss upon laughter.
- Clinical features included prolonged neonatal jaundice, cholestasis, hepatosplenomegaly, mental regression, and supranuclear ophthalmoplegia.
- Cranial magnetic resonance imaging revealed foam cells.
Findings:
- The patient was diagnosed with Niemann-Pick disease type C, presenting with symptomatic cataplexy.
- EEG findings were normal.
- Symptomatic cataplexy in this case is attributed to lesions in the pontine reticular formation.
Implications:
- Niemann-Pick disease type C should be considered in early-onset cataplexy, especially when cataplectic attacks are predominant and accompanied by other neurological symptoms.
- This case highlights the importance of considering symptomatic narcolepsy-cataplexy complex in pediatric patients with specific clinical presentations.
- Early diagnosis of Niemann-Pick disease type C is crucial for timely management and intervention.