Niemann-Pick type C (NPC) disease is a rare progressive neurovisceral disorder with disrupted intracellular cholesterol metabolism, which results in significant alterations to neuronal and axonal structure. While childhood onset disease results in severe liver disease, adolescent and adult patients may present with a range of symptoms including ataxia, gaze palsy, impaired cognition and neuropsychiatric illness.
Objective: To describe the history, clinical presentation, diagnosis and course of a group of patients diagnosed with Niemann Pick C from Australia in the last 15 years.
Methods: Patients ascertained from a specialist neurogenetics clinic, a dedicated neuropsychiatric unit and the Australian reference laboratory are described. Diagnosis in all cases was confirmed with filipin staining of cultured skin fibroblasts and cholesterol esterification rates. Genetic mutations were identified in many.
Results: Between 1995 -2009, 40 cases, of NPC were diagnosed. Of these 22 were diagnosed after 5 years old and 15 after the age of 12 and up to the fourth decade. Since symptom onset, many had been followed for years without diagnosis. As expected gastrointestinal symptoms were prominent in those diagnosed early infancy. In the others, gaze paresis was a significant clue, although in the older patients behavioural change and psychiatric symptoms were also prominent. Clinical summaries and signs will be presented.
Conclusions: The presentation Niemann Pick C varies with different age groups Clinical features, including gaze paresis may assist in reaching the correct diagnosis.