Table 1 Classification of signs and symptoms in NP-C
From: Niemann-Pick disease type C symptomatology: an expert-based clinical description
Visceral | Â |
| Â | Isolated unexplained splenomegaly |
| Â | Hepatomegaly/Splenomegaly |
| Â | Prolonged neonatal cholestatic jaundice |
| Â | Hydrops foetalis or foetal ascites |
| Â | Pneumopathologies (aspiration pneumonia, alveolar lipidosis, interstitial lung involvement) |
| Â | Mild thrombocytopenia |
Neurological | Â |
| Â | Vertical supranuclear gaze palsy |
| Â | Gelastic cataplexy |
| Â | Ataxia |
| Â | Dystonia |
| Â | Dysarthria |
| Â | Dysphagia |
| Â | Hypotonia |
| Â | Clumsiness |
| Â | Delayed developmental milestones |
| Â | Seizures |
| Â | Hearing loss |
Psychiatric | Â |
| Â | Developmental delay and pre-senile cognitive decline |
| Â | Organic psychosis |
| Â | Disruptive/aggressive behaviour |
| Â | Progressive development of treatment-resistant psychiatric symptoms |