Neurovisceral lipidosis compatible with Niemann-Pick disease type C: Morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family

Harzer, K.; Schlote, W.; Peiffer, J.; Benz, H. U.; Anzil, A. P.

doi:10.1007/bf00685003

Cited by 57 publications

(25 citation statements)

References 22 publications

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“…41,48,49 Subsequent observation confirms the progressive course of the illness as additional signs, including tremor and spasticity, appear. Vertical supranuclear gaze palsy has not been reported in these cases.…”

mentioning

confidence: 75%

“…49,73 Surviving Purkinje and Golgi cells, anterior horn cells, and neurons of the myenteric plexus all show evidence of excess lipid storage. 49 Studies in the NPC mouse have demonstrated preferential loss of cerebellar neurons in a striped pattern that correlates with the presence of heat shock proteins. 74 Virtually identical findings have been reported in the murine acid sphingomyelinase knockout (ASMKO).…”

Section: Pathologymentioning

confidence: 98%

“…70 Neuroaxonal dystrophy occurs throughout the central nervous system (CNS), with concentrations of axonal spheroids in the thalamus, dentate nucleus, and midbrain. 49,70 Cerebellar involvement is variable; in severe cases, there may be almost complete loss of granular and Purkinje cells, with residual gliosis. 49,73 Surviving Purkinje and Golgi cells, anterior horn cells, and neurons of the myenteric plexus all show evidence of excess lipid storage.…”

Section: Pathologymentioning

confidence: 98%

“…49,70 Cerebellar involvement is variable; in severe cases, there may be almost complete loss of granular and Purkinje cells, with residual gliosis. 49,73 Surviving Purkinje and Golgi cells, anterior horn cells, and neurons of the myenteric plexus all show evidence of excess lipid storage. 49 Studies in the NPC mouse have demonstrated preferential loss of cerebellar neurons in a striped pattern that correlates with the presence of heat shock proteins.…”

Section: Pathologymentioning

confidence: 98%

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A Riddle Wrapped in a Mystery: Understanding Niemann-Pick Disease, Type C

Patterson

2003

The Neurologist

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NPC is a model for inborn errors of metabolism whose gene product mediates molecular trafficking rather than catabolizing macromolecules, as in classic lipid storage diseases. NPC should be considered in the differential diagnosis of progressive neurodegenerative disorders at any age. The astute clinician can provide great comfort to families afflicted by NPC by making an accurate diagnosis, notwithstanding the absence of definitive treatment.

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mentioning

confidence: 75%

Section: Pathologymentioning

confidence: 98%

Section: Pathologymentioning

confidence: 98%

Section: Pathologymentioning

confidence: 98%

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A Riddle Wrapped in a Mystery: Understanding Niemann-Pick Disease, Type C

Patterson

2003

The Neurologist

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“…Zur Diagnosesicherung ist der Nachweis einer Cholesterinanhäufung in perinukleären Lysosomenäquivalenten und einer verminderten Cholesterinveresterung nach Beladung mit exogenem LDL-Cholesterin in Fibroblasten erforderlich.Die Behandlung beschränkt sich auf symptomatische Maßnahmen. Niemann-Pick disease type C -a neurometabolic disease through disturbed intracellular lipid transport meist regelrecht, zum Teil finden sich jedoch Demyelinisierungen mit perivaskulären Makrophagen [10,22]. Bei prolongiertem Verlauf wurden auch neurofibrilläre Tangles beschrieben, jedoch mit anderer Verteilung als bei M.Alzheimer [24].…”

Section: Discussionunclassified

Morbus Niemann-Pick Typ C

Grau

Weisbrod

Hund³

et al. 2003

Nervenarzt

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Niemann-Pick disease type C (NPC) is a rare, neurovisceral lipid storage disorder caused by genetic defects in lipid transporting proteins. It is distinct from Niemann-Pick types A and B (sphingomyelin lipidoses) and displays genetic (mutations in the NPC1 or NPC2[=HE1] gene), biochemical, and clinical heterogeneity. Late infantile to juvenile forms of NPC predominate and are characterised by atypical behaviour, ataxia, dysarthria, dysphagia, dystonia, cataplexy, vertical gaze palsy, splenomegaly, and dementia. In adult variants, psychosis and dementia are common, and dysarthria, ataxia, splenomegaly, and vertical gaze palsy are further facultative signs. Routine laboratory results including serum cholesterol are normal. In bone marrow smears, sea-blue histiocytes are often demonstrated and foam cells sometimes seen. The diagnosis is confirmed by detecting free cholesterol accumulation in perinuclear granules (lysosomes) and reduced cholesterol esterification after challenge with exogenous low-density lipoprotein in fibroblasts. Alternatively or additionally, mutational analysis can be performed. Treatment is restricted to symptomatic measures, since there is no specific therapy.

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Niemann‐Pick Variant Lipidosis Presenting as “Neonatal Hepatitis”

Semeraro,

Riely,

Kolodny

et al. 1986

J. pediatr. gastroenterol. nutr.

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Summary: Neonatal hepatitis is a nonspecific term that may include a variety of disease entities. Two patients are presented who developed jaundice in the neonatal period and progressive hepatosplenomegaly. The infants were initially felt to have “neonatal hepatitis” but were subsequently found to have Niemann‐Pick disease. Biochemical investigation revealed normal levels of sphingomyelinase activity in leukocytes and liver but diminished levels in cultured skin fibroblasts, compatible with Niemann‐Pick type C.

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Neurovisceral lipidosis compatible with Niemann-Pick disease type C: Morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family

Cited by 57 publications

References 22 publications

A Riddle Wrapped in a Mystery: Understanding Niemann-Pick Disease, Type C

A Riddle Wrapped in a Mystery: Understanding Niemann-Pick Disease, Type C

Morbus Niemann-Pick Typ C

Niemann‐Pick Variant Lipidosis Presenting as “Neonatal Hepatitis”

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