Gaucher’s Disease: Prenatal and Post Natal Diagnostic Dilemma and Biochemical Aid - Case Series and Review of Literature
Journal Title: Journal of Advances in Medicine and Medical Research - Year 2017, Vol 19, Issue 5
Abstract
Background: Gaucher’s Disease (GD) is a rare genetically inherited, autosomal recessive disorder. It is classified as a lysosomal storage disorder and is characterized by the accumulation of glycolipids. This is due to the deficiency of lysosomal hydrolase β – glucocerebrosidase. The gene responsible for synthesizing this enzyme is encoded by GBA1 on chromosome 1q21. Case Series: We present a case series of a Gravida-5 Para-3 Live-1 Death-2 Abortion-1 (G5P3L1D2A1) patient, with 19 weeks amenorrhea with prenatal diagnosis suggestive of GD clinically being planned for termination. The past obstetrics history is as follow; First pregnancy – full-term normal vaginal delivery (FTNVD) with male baby diagnosed as type 2 GD at 8 months after birth and died at 9 months 14 days; Second pregnancy – FTNVD with female baby presently 3 years 6 months and healthy and enzymatic assay and mutational analysis for GD negative; Third pregnancy – full-term lower segment cesarean section (FTLSCS) with male baby diagnosed as type 2 GD at 7 months after birth and died at 1 year 8 days; Fourth pregnancy – chorionic villus sampling (CVS) done at 12 weeks and enzymatic assay positive for GD and terminated at 17 weeks. Conclusions: We report a case of a lady presenting with two children diagnosed with type 2 GD after birth who died within a year of birth. Another two pregnancies diagnosed prenatally with GD and terminated and one healthy live child. Case series and Literature Review is presented together with an objective to emphasize that a rare disease like GD can have bad infant prognosis and that prenatal diagnostics can help in the diagnosis of the disease in intrauterine life, to facilitate making a timely decision. It also highlights the importance of genetic counseling to avoid dismal outcomes.
Authors and Affiliations
Mohammed Ismail Khan, Swathi Emmadisetty, Asna Yasmeen, Shahzeb Zaman
Keywords
Related Articles
- EP ID EP310955
- DOI 10.9734/BJMMR/2017/29680
- Views 114
- Downloads 0
Achieving Economy of Scale in Critical Care, Planning Information Necessary to Support the Choice of Bed Numbers
Aims: To investigate the need for additional critical care beds, the potential for economy of scale in larger units, including ratios to support the choice of bed numbers. Study Design: Time trend analysis and constructi...
Haematological and Kidney Function Indices of Piliostigma thonningii Leaf Extract Administration Following Pefloxacin Induced Toxicity in Wistar Rats
Aims: The study investigated haematological and kidney function indices of Wistar rats administered Piliostigma thonningii ethanol leaf extract after being induced with therapeutic doses of pefloxacin (400 mg/5 mL). Plac...
Correlation between Anthropometric Variables, Social Class, Age and Hematological Profile among Children with Sickle Cell Anemia in ENUGU South-East Nigeria
Background: Sickle cell anaemia (SCA), a common haematological genetic disorder, could affect both the growth and haematological profile of the sufferer. Objectives: This study aims at determining any correlation between...
Common Musculoskeletal Injuries in Athletes and Its Relation with Body Mass Index (BMI) in Jeddah Society
Aims: To study the types of sports injuries in different age groups and its prevalence in the Saudi society, especially in the city of Jeddah, thus comparing them with the BMI of the different age groups. Study Design:...
Investigation of Dynamic Thiol-Disulfide Homeostasis in Alopecia Areata Patients
Background: Thiols are antioxidant, organic compounds containing sulfhydryl group on their active sites. They have important roles on preventing oxidative stress. The thiol disulfide homeostasis has a vital importance in...