Table 3 Summary of Clinical signs and symptoms in NP-C, by age of onset
From: Consensus clinical management guidelines for Niemann-Pick disease type C
Age at onset | Systemic manifestations | Neurological/psychiatric manifestations |
|---|---|---|
Pre−/peri-natal (<  2 months) | Foetal ascites/hydrops | Hypotonia |
Hepatosplenomegaly | ||
Cholestatic jaundice | ||
Thrombocytopenia | ||
Pulmonary disease | ||
Liver failure | ||
Failure to thrive | ||
Early-infantile (2 m to < 2 yrs.) | Hepatosplenomegaly or Splenomegaly (isolated or with neurological manifestations) | Central hypotonia Delayed developmental motor milestones, speech delay |
Prolonged neonatal jaundice | Dysphagia, spasticity | |
VSGP | ||
Late-infantile (2 to < 6 yrs.) | Hepatosplenomegaly or Splenomegaly (isolated or with neurological manifestations) | Developmental delay/regression, speech delay |
History of prolonged neonatal cholestatic jaundice | Clumsiness, Frequent falls, | |
Progressive ataxia, dystonia, dysarthria, dysphagia, | ||
Seizures (partial/generalized) | ||
Cataplexy | ||
VSGP | ||
Hearing loss | ||
Juvenile (6 to 15Â yrs.) | Hepatosplenomegaly or Splenomegaly (isolated or with neurological manifestations; often not present) | Poor school performance, learning disability. Loss of language skill |
Frequent falls, clumsiness | ||
Progressive ataxia, dysarthria, dystonia, dysmetria, dyskinesia, dysphagia | ||
VSGP | ||
Gelastic cataplexy Seizures | ||
Behavioural problems | ||
Adolescent/adult (> 15 yrs.) | Splenomegaly (often not present; isolated in very rare cases) | Cognitive decline, dementia, learning disability Psychiatric signs: Schizophrenia (psychosis), depression. |
Clumsiness, progressive motor symptoms, tremor, ataxia, dystonia/dyskinesia, dysarthria, dysphagia VSGP |