Anesthetic Management in a Child With Niemann-Pick Disease
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چکیده
منابع مشابه
Anesthetic Management in a Child With Niemann-Pick Disease
Niemann-Pick is a lipid storage disease that results from a lysosomal enzyme deficiency (sphingomyelinase). It has different presentations, and it may affect various organs such as the central nervous system, kidney, liver, and spleen. Due to the complexity of the disease, careful perianesthetic management is necessary in order to reduce the risks and sequels. As there is little evidence availa...
متن کاملCase Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A.
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 ...
متن کاملanesthetic consideration of niemann-pick disease type c
nieman-pick disease type c is a rare, autosomal recessive, neurometabolic disorder associated with the accumulation of unesterified cholesterol in lysosomes and late endosomes. because of multiple organ involvement and wide range of clinical manifestations, these patients will demand multiple diagnostic and therapeutic procedures requiring anesthesia. sincepathogenesis of this disease is still ...
متن کاملInfant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow.
Bone marrow aspiration is the preliminary investigation in Niemann Pick disease type A when enzyme assays and mutation studies are unavailable. We report an infant with typical phenotype and enzyme deficiency, but undetectable Niemann Pick cells in the bone marrow. A new mutation R542X in SMPD gene was also detected.
متن کاملNiemann-Pick disease.
doi:10.5152/tjh.2011.15 The peripheral blood smear is an easy, inexpensive, and very useful diagnostic method. Although some think that it has lost its importance following the development of new automated complete blood counts, the peripheral blood smear should remain a primary diagnostic tool for clinicians, especially pediatricians. Peripheral blood smears aid clinicians in choosing the appr...
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ژورنال
عنوان ژورنال: Iranian Journal of Pediatrics
سال: 2016
ISSN: 2008-2142,2008-2150
DOI: 10.5812/ijp.5479