Background: Niemann–Pick’s disease type C (NP-C) is a rare, progressive, autosomal recessive
neurodegenerative disorder which occurs in about 1 in 90,000 live births. The spectrum
of organ manifestations includes visceral, neurological, and psychiatric symptoms.
These are largely variable and nonspecific that is why the disease is often only recognized
after many years.
Aims and Objectives: Early detection of the disease allows drug treatment to slow down the progression
and helps avoiding unnecessary interventions.
Question: Which additional symptoms in patients with combined developmental disorder should
lead to consider diagnostic investigations to detect NP-C?
Outcome: We report about a 10-year-old female patient presented with a general developmental
disorder and missing progress as well as inadequate laughter with subsequent falls.
Her further symptoms and specific diagnostics as well as the therapeutic process to
date are presented.
Conclusion: Although NP-C is a very rare disease, the following nonspecific symptoms become highly
suspicious when combined:
• Persistent fetal ascites, prolonged hyperbilirubinemia with hepato- and/or splenomegaly
in early infancy
• Developmental delay or regression, hypotonia, gait abnormalities, and hepatosplenomegaly
in early childhood
• Cognitive disorders (learning difficulties) with ataxia, dysarthria, dystonia, vertical
supranuclear saccade palsy (VSSP), behavioral disorders, epilepsy, and gelastic cataplexy
in older children and teenagers
• Psychiatric with neurological symptoms (ataxia, dementia, and VSSP) in young adults.
