Anaesthetic implications for splenectomy in a child with Gaucher’s disease

2021 ◽  
Vol 8 (4) ◽  
pp. 608-610
Author(s):  
Praneeth R ◽  
Kesavakumar Venkatraj
Keyword(s):  
Lysosomal Storage Disorder ◽  
Reticuloendothelial System ◽  
Anaesthetic Management ◽  
Lysosomal Storage ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Coagulation Abnormalities ◽  
Storage Disorder ◽  
Organ Complications

Gaucher’s disease, a lysosomal storage disorder, is caused by an inherited deficiency of beta glucocerebrosidase enzyme leading to the accumulation of glucocerebroside in the reticuloendothelial system. Patients with this disease often manifest coagulation abnormalities and multi-organ complications. These factors present a challenge to the anaesthesiologist, in deciding the type as well as the conduct of anaesthesia. We aim to report the anaesthetic management in a 3-years old child with Gaucher’s disease posted for splenectomy.

scholarly journals Lipid-Mimicking Phosphorus-Based Glycosidase Inactivators as Pharmacological Chaperones for the Treatment of Gaucher’s Disease

2021 ◽  
Author(s):  
Manuel Scherer ◽  
Andres G. Santana ◽  
Kyle Robinson ◽  
Steven Zhou ◽  
Herman S. Overkleeft ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Lysosomal Storage Disorder ◽  
Lysosomal Storage ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Pharmacological Chaperones ◽  
Gba Gene ◽  
Storage Disorder

Gaucher’s disease, the most prevalent lysosomal storage disorder, is caused by missense mutation of the GBA gene, ultimately resulting in deficient GCase activity, hence the excessive build-up of cellular glucosylceramide....

scholarly journals Gaucher’s Disease - A Rare Cause of Massive Splenomegaly

2019 ◽  
Vol 20 (2) ◽  
pp. 98-101
Author(s):  
Farzana Rahman ◽  
SK Jakaria Been Sayeed ◽  
Sabrina Rahman ◽  
AKM Humayon Kabir ◽  
Md Mujibur Rahman
Keyword(s):  
Bone Marrow ◽  
Genetic Diseases ◽  
Reticuloendothelial System ◽  
Lysosomal Storage ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Massive Splenomegaly ◽  
Onset Type ◽  
Enzyme Replacement ◽  
Rare Genetic Diseases

Gaucher’s disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it’s one of the rare genetic diseases for which therapy is now available. Lysosomal storage of the substrate in cells of the reticuloendothelial system leads to multisystem manifestations, including involvement of the liver, spleen, bone marrow, lungs, and nervous system. Three different subtypes have been identified: Type 1, non-neuropathic form, adult onset; type 2, acute neuropathic form, infantile onset; type 3, neuropathic form, juvenile onset. The diagnosis is confirmed by presence of less than 15% activity of the enzyme Glucocerebrosidase in peripheral leucocyte with presence of Gaucher cells in macrophase monocyte system, is the pathological hallmark. Enzyme replacement therapy (ERT) is now available. We are reporting a case here which presented with cytopenia and massive splenomegaly. This case has been presented to focus on the importance of clinical examinations, differentiating from other diseases of similar manifestations, enzyme activity and bone marrow study for early diagnosis. J MEDICINE JUL 2019; 20 (2) : 98-101

A lysosomal storage disorder in mice: A model of Niemann-Pick disease

1982 ◽  
Vol 5 (4) ◽  
pp. 239-240 ◽  
Author(s):  
T. Sakiyama ◽  
M. Tsuda ◽  
T. Kitagawa ◽  
R. Fujita ◽  
S. Miyawaki
Keyword(s):  
Lysosomal Storage Disorder ◽  
Lysosomal Storage ◽  
Niemann Pick Disease ◽  
Storage Disorder ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Gaucher's Disease - A case report

2015 ◽  
Vol 2 (2) ◽  
pp. 130
Author(s):  
Preeti Bajaj ◽  
Jyoti Kasture ◽  
Balbir Singh Shah
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Early Adulthood ◽  
Lysosomal Storage ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Type 3 ◽  
Storage Disorders

Gaucher's Disease (GD) is an autosomal recessive systemic lysosomal storage disorder which is characterized by glucocerebroside deposition in cells of the macrophage-monocyte system as a result of a deficiency in lysosomal P-glycosidase (glucocerebrosidase). GD is a rare genetic disorder. It is the most common amongst the lysosomal storage disorders. GD has been categorised into three types based on the presence of central nervous involvement1. Type 1 is a non-neuronopathic form that presents in childhood or early adulthood. Type 2 is acute neuronopathic form that presents in childhood. It progresses rapidly and is fatal. Type 3 is chronic non-neuronopathic form that presents in childhood but is slowly progressive. Here we describe a case of a three and a half year old male child in whom a diagnosis of Gaucher's disease was made based on bone marrow biopsy and later confirmed by glucocerebrosidase levels estimation.

scholarly journals The Association Between Lysosomal Storage Disorder Genes and Parkinson’s Disease: A Large Cohort Study in Chinese Mainland Population

2021 ◽  
Vol 13 ◽  
Author(s):  
Yu-wen Zhao ◽  
Hong-xu Pan ◽  
Zhenhua Liu ◽  
Yige Wang ◽  
Qian Zeng ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Lysosomal Storage Disorder ◽  
Rare Variants ◽  
Late Onset ◽  
Chinese Mainland ◽  
Lysosomal Storage ◽  
Post Translational Modification ◽  
Storage Disorder

Background: Recent years have witnessed an increasing number of studies indicating an essential role of the lysosomal dysfunction in Parkinson’s disease (PD) at the genetic, biochemical, and cellular pathway levels. In this study, we investigated the association between rare variants in lysosomal storage disorder (LSD) genes and Chinese mainland PD.Methods: We explored the association between rare variants of 69 LSD genes and PD in 3,879 patients and 2,931 controls from Parkinson’s Disease & Movement Disorders Multicenter Database and Collaborative Network in China (PD-MDCNC) using next-generation sequencing, which were analyzed by using the optimized sequence kernel association test.Results: We identified the significant burden of rare putative LSD gene variants in Chinese mainland patients with PD. This association was robust in familial or sporadic early-onset patients after excluding the GBA variants but not in sporadic late-onset patients. The burden analysis of variant sets in genes of LSD subgroups revealed a suggestive significant association between variant sets in genes of sphingolipidosis deficiency disorders and familial or sporadic early-onset patients. In contrast, variant sets in genes of sphingolipidoses, mucopolysaccharidoses, and post-translational modification defect disorders were suggestively associated with sporadic late-onset patients. Then, SMPD1 and other four novel genes (i.e., GUSB, CLN6, PPT1, and SCARB2) were suggestively associated with sporadic early-onset or familial patients, whereas GALNS and NAGA were suggestively associated with late-onset patients.Conclusion: Our findings supported the association between LSD genes and PD and revealed several novel risk genes in Chinese mainland patients with PD, which confirmed the importance of lysosomal mechanisms in PD pathogenesis. Moreover, we identified the genetic heterogeneity in early-onset and late-onset of patients with PD, which may provide valuable suggestions for the treatment.

scholarly journals Hyo-Mental Angle and Distance: An Important Adjunct in Airway Assessment of Adult Mucopolysaccharidosis

2021 ◽  
Vol 10 (21) ◽  
pp. 4924
Author(s):  
Chaitanya Gadepalli ◽  
Karolina M. Stepien ◽  
Govind Tol
Keyword(s):  
Lysosomal Storage Disorder ◽  
Hyoid Bone ◽  
Horizontal Axis ◽  
Moderate Correlation ◽  
Lysosomal Storage ◽  
Airway Assessment ◽  
Storage Disorder ◽  
Age Range ◽  
Mps I ◽  
Simpler Method

Background: Mucopolysaccharidosis (MPS) is a rare congenital lysosomal storage disorder with complex airways. High anterior larynx is assessed by thyromental distance (TMD) nasendoscopy. A simpler method to assess this hyoid bone is described. The distance between the central-hyoid and symphysis of the mandible (hyo-mental distance; HMD) and inclination of this line to the horizontal axis (hyo-mental angle; HMA) in neutrally positioned patients is investigated. Methods: HMA, HMD in MPS, and non-MPS were compared, and their correlation with height and weight were assessed. Results: 50 adult MPS patients (M = 32, F = 18, age range = 19–66 years; mean BMI = 26.8 kg/m2) of MPS I, II, III, IV, and VI were compared with 50 non-MPS (M = 25, F = 25; age range = 22–84 years; mean BMI = 26.5 kg/m2). Mean HMA in MPS was 25.72° (−10 to +50) versus 2.42° (−35 to +28) in non-MPS. Mean HMD was 46.5 (25.7–66) millimeters in MPS versus 41.8 (27–60.3) in non-MPS. HMA versus height and weight showed a moderate correlation (r = −0.4, p < 0.05) in MPS and no significant correlation (r < 0.4, p > 0.05) in non-MPS. HMD versus height and weight showed no correlation (r < 0.4, p > 0.05) in both groups. Conclusions: HMA seems more acute in MPS despite nearly the same HMD as non-MPS, signifying a high larynx, which may be missed by TMD.

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