Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials

Title

Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials

Creator

McGovern MM; Aron A; Brodie SE; Desnick RJ; Wasserstein MP

Publisher

Neurology

Date

2006

Subject

Female; Humans; Male; Child Development; Longevity; Infant Behavior; infant; Q3 Literature Search; Language Development; Motor Skills; Reflex; Muscle Hypotonia/etiology/physiopathology; Neurodegenerative Diseases/complications/physiopathology/psychology; Niemann-Pick Diseases/classification/complications/physiopathology/psychology; Respiratory Insufficiency/etiology/mortality; Stretch

Description

OBJECTIVE: To describe the disease course and natural history of Type A Niemann-Pick disease (NPD). METHODS: Ten patients with NPD-A (six male, four female; age range at entry: 3 to 6 months) were serially evaluated including clinical neurologic, ophthalmologic, and physical examinations, and assessment of development. Laboratory analyses, abdominal and brain ultrasounds, and chest radiographs also were obtained and information on intercurrent illnesses and cause of mortality was collected. RESULTS: All affected infants had a normal neonatal course and early development. The first symptom detected in all patients was hepatosplenomegaly. Developmental age did not progress beyond 10 months for adaptive behavior, 12 months for expressive language, 9 months for gross motor skills, and 10 months for fine motor skills. Non-neurologic symptoms included frequent vomiting, failure to thrive, respiratory infections, irritability, and sleep disturbance. Neurologic examination at the time of presentation was normal in most patients. Later neurologic examinations revealed progressive hypotonia with loss of the deep tendon reflexes. All patients had cherry red spots by 12 months. The median time from diagnosis to death was 21 months. The cause of death was respiratory failure in nine patients and complications from bleeding in the tenth. CONCLUSIONS: The clinical course in Type A Niemann-Pick disease is similar among affected patients and is characterized by a relentless neurodegenerative course that leads to death, usually within 3 years.
2006

Rights

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Type

Journal Article

Citation List Month

Backlog

Citation

McGovern MM; Aron A; Brodie SE; Desnick RJ; Wasserstein MP, “Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials,” Pediatric Palliative Care Library, accessed March 29, 2024, https://pedpalascnetlibrary.omeka.net/items/show/13342.