Biomaterial Database

Adult onset Niemann-Pick disease type C presenting with dementia and absent organomegaly. 1992

C M Hulette, and N L Earl, and D C Anthony, and B J Crain

Department of Pathology (Neuropathology), Duke University Medical Center, Durham, North Carolina 27710.

A 39-year-old female presented to the Bryan Memory Disorders Clinic at Duke University with a 7-year history of an atypical progressive dementia, mildly impaired vertical gaze, dysarthria and mild ataxia. There was no evidence of organomegaly by clinical examination or by radionuclide liver/spleen scan. Brain biopsy disclosed a neuronal storage disorder characterized by ballooned neurons filled with oligo-lamellar cytosomes and lipid droplets. Cultured skin fibroblasts had diminished sphingomyelinase activity and impaired cholesterol esterification, although peripheral leukocyte sphingomyelinase activity was normal. Two years after biopsy, follow-up examination revealed marked progression of vertical gaze paralysis and ataxia. This case expands the clinical spectrum of Niemann-Pick disease type C by presenting in adulthood with subtle neurologic abnormalities; no visceromegaly and profound dementia.

UI	MeSH Term	Description	Entries
D008854	Microscopy, Electron	Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.	Electron Microscopy
D009474	Neurons	The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.	Nerve Cells,Cell, Nerve,Cells, Nerve,Nerve Cell,Neuron
D009483	Neuropsychological Tests	Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.	Aphasia Tests,Cognitive Test,Cognitive Testing,Cognitive Tests,Memory for Designs Test,Neuropsychological Testing,AX-CPT,Behavioral Assessment of Dysexecutive Syndrome,CANTAB,Cambridge Neuropsychological Test Automated Battery,Clock Test,Cognitive Function Scanner,Continuous Performance Task,Controlled Oral Word Association Test,Delis-Kaplan Executive Function System,Developmental Neuropsychological Assessment,Hooper Visual Organization Test,NEPSY,Neuropsychologic Tests,Neuropsychological Test,Paced Auditory Serial Addition Test,Repeatable Battery for the Assessment of Neuropsychological Status,Rey-Osterrieth Complex Figure,Symbol Digit Modalities Test,Test of Everyday Attention,Test, Neuropsychological,Tests, Neuropsychological,Tower of London Test,Neuropsychologic Test,Test, Cognitive,Testing, Cognitive,Testing, Neuropsychological,Tests, Cognitive
D009542	Niemann-Pick Diseases	A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.	ASM Deficiency,ASM-Deficient Niemann-Pick Disease,Acid Sphingomyelinase Deficiency,Acid Sphingomyelinase-deficient Niemann-Pick Disease,Niemann-Pick Disease,ASM Deficiencies,ASM Deficient Niemann Pick Disease,ASM-Deficient Niemann-Pick Diseases,Acid Sphingomyelinase deficient Niemann Pick Disease,Deficiencies, ASM,Deficiencies, Acid Sphingomyelinase,Deficiency, ASM,Deficiency, Acid Sphingomyelinase,Disease, ASM-Deficient Niemann-Pick,Diseases, ASM-Deficient Niemann-Pick,Niemann Pick Disease,Niemann Pick Diseases,Niemann-Pick Disease, ASM-Deficient,Niemann-Pick Diseases, ASM-Deficient,Sphingomyelinase Deficiencies, Acid,Sphingomyelinase Deficiency, Acid
D001921	Brain	The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.	Encephalon
D003704	Dementia	An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.	Senile Paranoid Dementia,Amentia,Familial Dementia,Amentias,Dementia, Familial,Dementias,Dementias, Familial,Dementias, Senile Paranoid,Familial Dementias,Paranoid Dementia, Senile,Paranoid Dementias, Senile,Senile Paranoid Dementias
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260	Female		Females
D005347	Fibroblasts	Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.	Fibroblast
D006529	Hepatomegaly	Enlargement of the liver.	Enlarged Liver,Liver, Enlarged