NIEMANN-PICK DISEASE

NIEMANN-PICK DISEASE, TYPE A
NIEMANN-PICK DISEASE, TYPE B
NIEMANN-PICK DISEASE, TYPE C 1
NIEMANN-PICK DISEASE, TYPE C 2
Abdomen
Protuberant abdomen
Gastrointestinal
Constipation
Dysphagia
Hepatomegaly
Splenomegaly
Vomiting
General
Onset in infancy
Growth
Short stature
Hematologic
Histiocytes (Sea blue)
Large vacuolated foam cells ('NP cells') on bone marrow biopsy
Microcytic anemia
Immunologic System
Lymphadenopathy
Metabolic Abnormality
Decreased acid sphingomyelinase activity
Neonatal jaundice
Muscle
Hyporeflexia
Hypotonia
Muscle weakness
Neurologic Abnormality
Athetosis
Developmental delay
Spasticity
Oral
Dental abnormalities
Performance
Mental retardation
Respiratory
Diffuse reticular or finely nodular infiltrations
Frequent respiratory infections
Skeletal
Rigidity
Skin
Cherry-red maculae
Gray, granular-appearing maculae
Xanthomas