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Niemann-pick in children

Markku J Nissinen, Niina Pitkänen, Piia Simonen, Helena Gylling, Jorma Viikari, Olli Raitakari, Terho Lehtimäki, Markus Juonala, Mikko P Pakarinen
BACKGROUND & AIMS: Gallstone disease is related to hypersecretion of cholesterol in bile, and low serum phytosterol levels. We examined how genetic polymorphisms of sterol transporters affect childhood cholesterol metabolism trait predicting adult gallstone disease. PATIENTS AND METHODS: In retrospective controlled study, we determined D19H polymorphism of ABCG8 gene, genetic variation at Niemann-Pick C1-like 1 (NPC1L1) gene locus (rs41279633, rs17655652, rs2072183, rs217434 and rs2073548), and serum cholesterol, noncholesterol sterols and lipids in children affected by gallstones decades later (n = 66) and controls (n = 126)...
April 26, 2018: Digestive and Liver Disease
Alberto Benussi, Maria Sofia Cotelli, Alessandro Padovani, Barbara Borroni
Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder with extensive biological, molecular, and clinical heterogeneity. Recently, numerous studies have tried to shed light on the pathophysiology of the disease, highlighting possible disease pathways common to other neurodegenerative disorders, such as Alzheimer's disease and frontotemporal dementia, and identifying possible candidate biomarkers for disease staging and response to treatment. Miglustat, which reversibly inhibits glycosphingolipid synthesis, has been licensed in the European Union and elsewhere for the treatment of NPC in both children and adults...
2018: F1000Research
Brittney L Gurda, Jessica H Bagel, Samantha J Fisher, Mark L Schultz, Andrew P Lieberman, Peter Hand, Charles H Vite, Gary P Swain
The feline model of Niemann-Pick disease, type C1 (NPC1) recapitulates the clinical, neuropathological, and biochemical abnormalities present in children with NPC1. The hallmarks of disease are the lysosomal storage of unesterified cholesterol and multiple sphingolipids in neurons, and the spatial and temporal distribution of Purkinje cell death. In feline NPC1 brain, microtubule-associated protein 1 light chain 3 (LC3) accumulations, indicating autophagosomes, were found within axons and presynaptic terminals...
March 1, 2018: Journal of Neuropathology and Experimental Neurology
James Blundell, Steven Frisson, Anupam Chakrapani, Paul Gissen, Chris Hendriksz, Suresh Vijay, Andrew Olson
Niemann-Pick type C (NP-C) is a rare recessive disorder associated with progressive supranuclear gaze palsy. Degeneration occurs initially for vertical saccades and later for horizontal saccades. There are studies of oculomotor degeneration in adult NP-C patients [1, 2] but no comparable studies in children. We used high-resolution video-based eye tracking to record monocular vertical and horizontal eye movements in 2 neurological NP-C patients (children with clinically observable oculomotor abnormalities) and 3 pre-neurological NP-C patients (children without clinically observable oculomotor abnormalities)...
February 2018: Molecular Genetics and Metabolism
Anne Marie Winstone, Lesley Ann Stellitano, Christopher Michael Verity
AIM: To describe the cases of Niemann-Pick type C (NP-C) disease in a United Kingdom epidemiological study of progressive intellectual and neurological deterioration in childhood. METHOD: Paediatricians notified cases via the British Paediatric Surveillance Unit between 1997 and 2015. RESULTS: Fifty-three NP-C patients were identified: 29 females, 24 males. Fifteen cases had a systemic presentation (neonatal jaundice and/or hepatosplenomegaly)...
September 2017: Developmental Medicine and Child Neurology
X Zhan, N Lin, H W Zhang, X L Gao, W J Qiu, L S Han, J Ye, X F Gu
OBJECTIVE: To investigate 7-ketocholesterol (7-KC) level in the blood, clinical features and gene mutation of Niemann-Pick disease type C (NPC). METHOD: Eighteen patients diagnosed as NPC in Shanghai Xinhua Hospital seen from February 2013 to October 2014 were enrolled in this study. They included 13 males and 5 females and aged from 5 months to 21 years. The plasma 7-KC concentrations, clinical features and gene mutations of NPC patients were reviewed retrospectively...
June 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Frédéric Sedel, Brigitte Chabrol, Bertrand Audoin, Elsa Kaphan, Christine Tranchant, Tomasz Burzykowski, Ayman Tourbah, Marie T Vanier, Damien Galanaud
Niemann-Pick disease type C (NP-C) is a fatal progressive neurolipidosis involving neuronal storage of cholesterol and gangliosides. Miglustat, an inhibitor of glycosphingolipid synthesis, has been approved to treat neurological manifestations in adults and children with NP-C. This open-label observational study in adults with confirmed NP-C evaluated the efficacy of miglustat (200 mg t.i.d.) based on composite functional disability (CFD) scores and brain proton magnetic resonance spectroscopy (H-MRS) measurement of choline (Cho)/N-acetyl aspartate (NAA) ratio in the centrum ovale...
May 2016: Journal of Neurology
Mohamed A Elmonem, Iman G Mahmoud, Dina A Mehaney, Sahar A Sharaf, Sawsan A Hassan, Azza Orabi, Fadia Salem, Marian Y Girgis, Amira El-Badawy, Magy Abdelwahab, Zeinab Salah, Neveen A Soliman, Fayza A Hassan, Laila A Selim
OBJECTIVE: To describe the spectrum, relative prevalence and molecular background of lysosomal storage disorders in Egypt. METHODS: The authors evaluated the selective screening program for the diagnosis of lysosomal storage disorders in Egyptian children presenting to the inherited metabolic disease unit at Cairo University Children's Hospital, the largest tertiary care pediatric hospital in Egypt, over a six-year period (April 2008 through April 2014). During this period, 1,065 suspected children were assessed clinically, biochemically and some genetically...
August 2016: Indian Journal of Pediatrics
Ryo Suzuki, Atsushi Tanaka, Toshiharu Matsui, Tetsuki Gunji, Jun Tohyama, Aya Nairita, Eiji Nanba, Kousaku Ohno
Niemann-Pick disease type C (NPC) is a rare progressive neurodegenerative disorder, often with onset after normal early childhood development. Juvenile onset NPC patients slowly develop cerebellar symptoms and cognitive impairment and often experience difficulties at school. However, these problems may be overlooked due to the unpublicized nature of NPC, given that it is a rare metabolic disorder. In this report, we present an 11-year-old male NPC patient, who suffered from clumsiness and difficulties in attention and academic and social skills...
2015: Case Reports in Pediatrics
Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Frenny Sheth, Mahesh Kamate, Heli Shah, Chaitanya Datar
OBJECTIVE: To study the etiology of neuroregression in children having deficiency of the lysosomal enzymes. DESIGN: Review of medical records. SETTING: Specialized Genetic Center. PARTICIPANTS: 432 children aged 3 mo-18 y having regression in a learned skill, selected from 1453 patients referred for diagnostic workup of various Lysosomal storage disorders (LSDs). METHODS: Plasma chitotriosidase, quantitative and qualitative glycosaminoglycans, and mucolipidosis-II/II screening followed by confirmatory enzyme study using specific substrate was carried out; Niemann-Pick disease Type-C was studied by fillipin stain method on skin fibroblasts...
December 2015: Indian Pediatrics
Giulia Polo, Alessandro Burlina, Francesca Furlan, Thilini Kolamunnage, Mara Cananzi, Laura Giordano, Martina Zaninotto, Mario Plebani, Alberto Burlina
BACKGROUND: Niemann-Pick disease type C (NPC) is a rare lipid storage disorder characterized by progressive neurological deterioration. Diagnosing NPC is challenging as clinical signs and symptoms are variable and non-specific. Two oxysterols, cholestane-3β,5α,6β-triol (triol) and 7-ketocholesterol (7KC), have been proposed as biomarkers for aiding diagnosis of NPC. This study evaluated the use of triol and 7KC as biomarkers in cholestatic neonates with suspected NPC. METHODS: Plasma triol and 7KC were analysed as dimethylglycine esters using an liquid chromatography - tandem mass spectrometry (LC-MS/MS) assay in selected neonates with severe cholestasis and suspected NPC (n=7), adults with cholestasis (n=15), patients with confirmed NPC (positive controls; n=11 [one child and 10 adults]), healthy subjects (negative controls; n=40 [20 children and 20 adults]), and cholestatic adults (comparative reference; n=15)...
July 1, 2016: Clinical Chemistry and Laboratory Medicine: CCLM
Audrey Thurm, Cristan Farmer, Nicole Yanjanin Farhat, Edythe Wiggs, David Black, Forbes D Porter
AIM: To describe the neurocognitive and adaptive behavior profile of children and adolescents with Niemann-Pick Disease type C1 (NPC1), a rare genetic disease that frequently presents in childhood, with variable onset and symptom complex involving neurodegeneration. METHOD: Thirty-eight participants (20 males, 18 females; mean age 8y 10mo, SD 4y 8mo, range 1-18y) with NPC1 were evaluated through a natural history protocol. RESULTS: NPC1 severity was in the mild to moderate range for most participants...
March 2016: Developmental Medicine and Child Neurology
F Mochel
INTRODUCTION: Inborn errors of metabolism (IEM) are traditionally defined by enzymatic deficiencies or defects in proteins involved in cellular metabolism. Historically discovered and characterized in children, a growing number of IEM are described in adults, and especially in the field of neurology. In daily practice, it is important to recognize emergency situations as well as neurodegenerative diseases for which a metabolic disease is likely, especially when therapeutic interventions are available...
June 2015: Revue Neurologique
V S Berezenko, M B Dyba
The aim is to acquaint medical society with literature data and specific details of clinical incidents of Niemann-Pick disease among 14 year old children. The article gives a brief review of literature on the problem of diagnostics, symptoms and treatment of Niemann-Pick disease in children. A clinical case of a forteen-year-old girl with type C Niemann-Pick disease is presented, the peculiarity of which is a combination of symptoms typical of the disease with a low level of ceruloplasmin in serum.
2014: Experimental & Clinical Gastroenterology
Robert Hegarty, Nedim Hadzic, Paul Gissen, Anil Dhawan
UNLABELLED: Acute liver failure (ALF) in children is a rare condition that is often fatal without liver transplantation. The diagnostic work-up is complex, and the etiology is unidentified in up to half of patients, making decisions like therapeutic transplantation extremely difficult. We collected clinical, laboratory, and outcome data on all patients under 5 years of age who were admitted between January 2001 and December 2011 to King's College Hospital with ALF secondary to an inherited metabolic disease (IMD), a common cause of pediatric acute liver failure...
October 2015: European Journal of Pediatrics
Glynis Klinke, Marianne Rohrbach, Roberto Giugliani, Patricie Burda, Matthias R Baumgartner, Christel Tran, Matthias Gautschi, Déborah Mathis, Martin Hersberger
BACKGROUND: Niemann-Pick type C (NP-C) is a rare progressive neurodegenerative lipid storage disorder with heterogeneous clinical presentation and challenging diagnostic procedures. Recently oxysterols have been reported to be specific biomarkers for NP-C but knowledge on the intra-individual variation and on reference intervals in children and adolescents are lacking. METHODS: We established a LC-MS/MS assay to measure Cholestane-3β, 5α, 6β-triol (C-triol) and 7-Ketocholesterol (7-KC) following Steglich esterification...
June 2015: Clinical Biochemistry
Hanna Alobaidy
Niemann-Pick disease (NP-C) is a lysosomal storage disease in which impaired intracellular lipid transport leads to accumulation of cholesterol and glycosphingolipids in various neurovisceral tissues. It is an autosomal recessive disorder, caused by mutations in the NPC1 or NPC2 genes. The clinical spectrum is grouped by the age of onset and onset of neurological manifestation: pre/perinatal; early infantile; late infantile; and juvenile periods. The NP-C Suspicion Index (SI) screening tool was developed to identify suspected patients with this disease...
2015: International Journal of Pediatrics
Jitesh Ahuja, Jeffrey P Kanne, Cristopher A Meyer, Sudhakar N J Pipavath, Rodney A Schmidt, Jonathan O Swanson, J David Godwin
Histiocytic disorders of the chest comprise a broad spectrum of diseases. The lungs may be involved in isolation or as part of systemic disease. Some of these disorders are primary and have unknown etiology, and others result from a histiocytic response to a known cause. Among primary histiocytic disorders, pulmonary Langerhans cell histiocytosis (PLCH) is the most common; others include Erdheim-Chester disease and Rosai-Dorfman disease. Adult PLCH occurs almost exclusively in adults aged 20-40 years who smoke...
March 2015: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Rui Yang, Dongqiong Tan, Yu Wang, Jun Ye, Lianshu Han, Wenjuan Qiu, Xuefan Gu, Huiwen Zhang
OBJECTIVE: To analyze the clinical characteristics of three Chinese cases of Niemann-Pick disease type C patients with neonatal cholestasis as initial presentation, and enhance awareness of Niemann-Pick disease type C among pediatricians. METHOD: Three sporadic cases with confirmed Niemann-Pick disease type C initially presented as neonatal cholestasis were retrospectively reviewed in this study. Their peripheral blood specimens were collected after obtaining informed consent...
January 2015: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Késsia Suênia Fidelis Mesquita-Guimarães, Andiara De Rossi, Aldevina Campos Freitas, Paulo Nelson-Filho, Raquel Assed da Silva, Alexandra Mussolino de Queiroz
Objective. This case report describes the changes in caries risk and activity and dental treatment of a 9-year-old patient who presented with signs and symptoms of Niemann-Pick disease type C (NPC). Treatment. The preventive dental treatment included instructions to caregivers for oral hygiene and diet. A calcium hydroxide pulpotomy and restorative dental treatments were performed in a dental office with desensitization techniques and behavioral management. The patient was attended every 3 months for the control of dental plaque biofilm, for topical fluoride application, and for observing the pulpotomized tooth...
2015: Case Reports in Dentistry
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