Infant with Type A Niemann Pick Disease and Undetectable Niemann Pick Cells in Bone Marrow (original) (raw)
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Niemann Pick Disease Type A in an Infant: A Case Report
Abstract: Niemann-Pick Disease is an autosomal recessive disorder of infancy characterized by failure to thrive, hepatosplenomegaly and neurodegenerative changes. Inherited deficiency of acid sphingomyelinase activity leads to sphingomyelin and cholesterol storage within the lysosome. The clinical phenotype ranges from a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age (type A) to a later-onset non neurologic form (type B) that is compatible with survival into adulthood. We present a case of niemann-pack disease with galaxy of typical and atypical presentation. It’s a rare disease in India.
Niemann Pick Disease – a Case Report
Journal of evolution of medical and dental sciences, 2012
Niemann Pick Disease (NPD) is a rare autosomal recessive metabolic disease characterized by lysosomal lipid storage. The disease is caused by deficiency of enzyme, acid sphingomyelinase (ASM) which leads to accumulation of sphingomyelin & other lipids in reticuloendothelial cells of various organs like liver, spleen, bone marrow, lymph node, brain, nerves and kidney. Four types of the disease have been identified which are A, B, C and D. The type C is divided into types C1 and C2, each caused by a different gene mutation. We report a case of Niemann Pick Disease type B. The patient was a 10 month male child who presented with repeated episodes of vomiting and loose motions. His blood counts revealed pancytopenia. Bone marrow (BM) aspiration was performed which showed many large histiocytes with foamy cytoplasm-Niemann Pick cells which are characteristic of this disease. Further confirmatory investigations were not done because of nonaffordability of parents. At present no definite treatment is available however newer treatment modalities like Bone Marrow transplant, enzyme replacement therapy and gene therapy are likely to be useful especially in NPD type B. However such treatment is unlikely to prevent or reverse the major neurological complications of NPD type A. Supportive treatment through nutrition,medication, physical therapy can help to improve quality of life.
Niemann - Pick Disease Type B: A Case Report
Bangladesh Journal of Child Health
Niemann-Pick disease is a rare lysosomal storage disease responsible for numerous cytological abnormalities involving liver, spleen, lymph nodes, nervous system, lungs and bone marrow. This disease occurs due to accumulation of sphingomyelin in various tissues. Our patient is a 4 years boy presented with hepatosplenomegaly and growth failure. Cherry red spot was found on ophthalmologic examination. Niemann Pick cell was found on bone marrow examination. As because enzyme estimation is not available in Bangladesh, we diagnosed the case as Niemann Pick disease considering the clinical and laboratory findings.Bangladesh J Child Health 2017; VOL 41 (2) :135-137
Genetic and laboratory diagnostic approach in Niemann Pick disease type C
Journal of neurology, 2014
Niemann Pick disease type C (NP-C) is a rare autosomal recessive disorder that results from mutations in either the NPC1 or the NPC2 gene. The estimated incidence of NP-C is 1 in 120,000 live births, although the frequency of cases is higher in some isolated populations. More than 350 different NPC1 and NPC2 gene mutations have been reported in patients with confirmed diagnoses. Approximately 95 % of patients harbour mutations in NPC1, with most of the remaining patients having NPC2 mutations. The traditional methods for diagnosing patients with NP-C include histopathological analysis of bone marrow aspirate, liver and skin biopsies, fluorescent and electron microscopy, and cholesterol esterification assays. New laboratory methods that use mass spectroscopy for detection of cholesterol metabolism products are promising to become part of the routine diagnostic and screening tests in the near future, but further evaluation is required to determine the sensitivity and specificity of th...
Niemann - Pick disease associated with hemophagocytic syndrome
Turkish Journal of Hematology, 2010
Hemophagocytic lymphohistiocytosis (HLH) is a disease characterized by phagocytosis of blood cells by macrophages within the lymphoreticular tissue. It can develop secondary to some diseases or be familial as a result of genetic mutations. Niemann-Pick disease (NPD) is a very rare lipid storage disease. A three-month-old girl presented with high fever (39°C), abdominal distension and paleness. The parents were consanguineous. The liver and spleen were palpable 10 cm and 11 cm below the costal margins, respectively. Bicytopenia (Hb: 5.5 g/dl, platelet: 77000/mm 3), hypertriglyceridemia (351 mg/ dl), hyperferritinemia (>1500 ng/dl) and hypofibrinogenemia (120 mg/dl) were detected. Bone marrow aspiration demonstrated foam cells and hemophagocytosis by macrophages and Niemann-Pick cells. Lysosomal sphingomyelinase activity was 0.24 nmol/h/mg/protein (normal: 0.86-2.8). Due to the parents' refusal of further evaluation, the nature of HLH as primary or secondary could not be determined. To the best of our knowledge, this is the first case of NPD associated with HLH and the first demonstration of hemophagocytosis by Niemann-Pick cells.
Niemann-Pick disease type A: a case report
Medica Hospitalia : Journal of Clinical Medicine, 2021
BACKGROUND Niemann-Pick disease (NPD) types A result from the deficient activity of sphingomyelinase. NPD type A is characterized by early-onset, progressive neurodegenerative course; systemic disease manifestations, including massive hepatosplenomegaly, interstitial lung disease, and cherry-red macula; and death in early childhood. The objective: to enhance the recognition of health care providers about the potential undiagnosed NPD because nonspecific clinical manifestation CASE PRESENTATION A 18-months-old boy was admitted to Dr. Kariadi Hospital with enlarged abdomen since seventh month old with failure to thrive. He also showed progressive loss of neurologic function, microcephaly with open major fontanelle, recurrent pulmonary and systemic infection. Physical examination revealed facial dysmorphic, milestone regression, under-nutrition, crackles in both lungs, hepatosplenomegaly with petechial in extremities and floppy infants. Laboratory investigations showed anemia (9.4 ...
Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A
F1000Research, 2015
A 14-month-old child, recently diagnosed with Niemann-Pick disease type A, presented for a laparoscopic placement of a gastrostomy tube under general anesthesia. The disease was confirmed and further characterized by genetic testing, which revealed evidence of the presence of two known pathogenic mutations in the SMPD1 gene, and enzyme studies showed a corresponding very low level of enzymatic activity of acidic sphingomyelinase. The anesthetic management involved strategies to manage an anticipated difficult intubation and avoid post-operative ventilation.
American journal of human genetics, 1992
Thirty-seven pregnancies at risk for Niemann-Pick type C disease were monitored by study of cultured amniotic fluid cells (8 cases) or chorionic villus cells (29 cases) in 23 couples over the period 1984-91. An early protocol combined determination of sphingomyelinase activity with electron microscopy. The current strategy, based on the demonstration of specific abnormalities in intracellular processing of exogenous cholesterol, combines the study of the early phase (first 6 h) of LDL-induced cholesteryl ester formation and the histochemical evaluation (filipin staining after 24 h of LDL uptake) of the LDL-induced accumulation of unesterified cholesterol. Thirteen fetuses were predicted to be affected. Confirmation of the diagnosis was made by study of cholesterol processing in fetal skin fibroblast cultures and/or by demonstration of a characteristic lipid storage in fetal liver, already present at 14 w gestation. Definition of the biochemical phenotype (classical, variant, or inte...
The clinical spectrum of fetal Niemann-Pick type C
American Journal of Medical Genetics Part A, 2009
Niemann–Pick type C (NPC) disease is a lysosomal neurovisceral storage disease. The spectrum of the clinical presentation as well as the severity of the disease and the age of presentation may be highly variable. Fetal presentation is rarely described in the literature. Here, we report on seven new cases of fetal onset NPC of whom two were diagnosed in utero and five postnatally. The fetal clinical presentation, included, in utero splenomegaly (6/7), in utero hepatomegaly (5/7), in utero ascites (4/7), intra uterine growth retardation (IUGR) (2/7), and oligohydramnios (2/7). Placentomegaly was present in two of the three pregnancies examined. Congenital thrombocytopenia (4/4), congenital anemia (2/4), and petechial rash (2/5) were diagnosed immediately after birth. Three patients were born preterm. Pregnancy and postnatal outcome were remarkably poor with one case of intrauterine fetal death, one elective termination of pregnancy, and four patients who died within the first months of life from a rapidly fatal neonatal cholestatic disease. NPC1 gene mutation analysis identified all of the mutant alleles including three novel mutations. Splenomegaly, hepatomegaly, and ascites were the most consistent prenatal ultrasonographic findings of the NPC fetuses. We suggest that once identified these findings, should raise the suspicion of fetal NPC. Our study further expands the antenatal clinical spectrum of NPC and provides clues to its prenatal diagnosis. © 2009 Wiley-Liss, Inc.
Children
Background: To report on clinical presentation and outcomes of children who underwent liver transplantation (LTx) and were subsequently diagnosed to have Niemann-Pick type C (NPC). Methods: Retrospective, descriptive, multi-centre review of children diagnosed with NPC who underwent LTx (2003–2018). Diagnosis was made by filipin skin test or genetic testing. Results: Nine children were identified (six centres). Neonatal acute liver failure was the most common indication for LTx (seven children). Median age at first presentation: 7 days (range: 0–37). The most prevalent presenting symptoms: jaundice (8/9), hepatosplenomegaly (8/9) and ascites (6/9). 8/9 children had a LTx before the diagnosis of NPC. Genetic testing revealed mutations in NPC1 correlating with a severe biochemical phenotype in 5 patients. All 9 children survived beyond early infancy. Seven children are still alive (median follow-up time of 9 (range: 6–13) years). Neurological symptoms developed in 4/7 (57%) patients at...