Table 3.
Summary of Clinical signs and symptoms in NP-C, by age of onset
| 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 15 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 |