Niemann–Pick Disease

Patterson, Marc C.

doi:10.1002/9781118661895.ch24

Cited by 3 publications

(2 citation statements)

References 83 publications

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“…Generally, Niemann–Pick disease is initially suspected upon the observation of variable phenotypic manifestations, but the final diagnoses of NPD-A and NPD-B are based on the identification of acid sphingomyelinase deficiency. The definitive diagnosis of NPD-C requires the demonstration of abnormal intracellular cholesterol trafficking by the impaired response to low-density lipoprotein cholesterol loading in cultured fibroblasts ( 11 ).…”

Section: Discussionmentioning

confidence: 99%

First Prenatal Diagnosis of a Niemann–Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature

Pleș¹,

Sima²,

Nedelea³

et al. 2018

Front. Endocrinol.

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BackgroundThe importance of fetal nuchal translucency was highlighted in the early 1990s as a useful first-trimester marker to identify fetal chromosomal abnormalities. Here, we report the prenatal diagnosis of a fetus with Niemann–Pick disease type C initially identified by first-trimester ultrasonographic markers and eventually confirmed by extensive genetic evaluation.Case presentationThe fetus of a 30-year-old woman exhibited a cystic hygroma in the first trimester of pregnancy. The woman underwent chorionic villus sampling with extensive genetic investigations to identify the genetic cause of the ultrasonographic findings. Owing to normal karyotype results, further evaluation of 1,024 genes underlying structural abnormalities was performed. This test identified a homozygous mutation of the NPC2 gene (OMIM 601015), which has been reported to be pathogenic and responsible for Niemann–Pick disease type C2 (NPD-C2). Genetic evaluation of the parents found them to be carriers. Considering the poor prognosis, the parents decided to terminate the pregnancy. Ultrasonographic screening during the subsequent pregnancy showed normal findings; however, molecular testing for the previous familial mutation c.441 + 1G>A identified the fetus as homozygous for this mutation. Therefore, the parent chose to terminate the subsequent pregnancy as well.ConclusionWe report the first prenatal diagnosis of NPD-C2 based on a cystic hygroma found during the first trimester of pregnancy as the sole indicator.

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Section: Discussionmentioning

confidence: 99%

First Prenatal Diagnosis of a Niemann–Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature

Pleș¹,

Sima²,

Nedelea³

et al. 2018

Front. Endocrinol.

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“…The estimated prevalence of NPC is 1 in 100,000 European births, with Niemann-Pick disease type C1 (NPC1) accounting for 95% of cases, and Niemann-Pick disease type C2 (NPC2), 5% [ 2 , 3 ]. NPC1 arises from a mutation in NPC1, which encodes for a transmembrane protein incorporated into late endosomes [ 4 ]. When NPC1 is dysfunctional, lipids accumulate in the endosomal system of the cell, which precipitates a cascade of cellular events, leading to neuronal death.…”

Section: Introductionmentioning

confidence: 99%

Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1

et al. 2016

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Niemann-Pick Disease, type C1 (NPC1) is a rapidly progressive neurodegenerative disorder characterized by cholesterol sequestration within late endosomes and lysosomes, for which no reliable imaging marker exists for prognostication and management. Cerebellar volume deficits are found to correlate with disease severity and diffusion tensor imaging (DTI) of the corpus callosum and brainstem, which has shown that microstructural disorganization is associated with NPC1 severity. This study investigates the utility of cerebellar DTI in clinical severity assessment. We hypothesize that cerebellar volume, fractional anisotropy (FA) and mean diffusivity (MD) negatively correlate with NIH NPC neurological severity score (NNSS) and motor severity subscores. Magnetic resonance imaging (MRI) was obtained for thirty-nine NPC1 subjects, ages 1–21.9 years (mean = 11.1, SD = 6.1). Using an atlas-based automated approach, the cerebellum of each patient was measured for FA, MD and volume. Additionally, each patient was given an NNSS. Decreased cerebellar FA and volume, and elevated MD correlate with higher NNSS. The cognition subscore and motor subscores for eye movement, ambulation, speech, swallowing, and fine motor skills were also statistically significant. Microstructural disorganization negatively correlated with motor severity in subjects. Additionally, Miglustat therapy correlated with lower severity scores across ranges of FA, MD and volume in all regions except the inferior peduncle, where a paradoxical effect was observed at high FA values. These findings suggest that DTI is a promising prognostication tool.

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Pediatric dyslipidemias: lipoprotein metabolism disorders in children

Ballout

Remaley

2021

Biochemical and Molecular Basis of Pediatric Disease

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Niemann–Pick Disease

Cited by 3 publications

References 83 publications

First Prenatal Diagnosis of a Niemann–Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature

First Prenatal Diagnosis of a Niemann–Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature

Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1

Pediatric dyslipidemias: lipoprotein metabolism disorders in children

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