Page 14 - Demo

MOGS Chronicles | Volume 1 | Issue 1 | September 2024 7IntroductionGaucher disease (GD) is lysosomal storage disorderautosomal recessive, caused by inherited deficiency of enzyme %u03b2-glucocerebrosidase leading to accumulation of glucocerebroside (glucosylceramide) and several related compounds that are ordinarily degraded to glucose and lipid, to accumulate within lysosomal cells of reticuloendothelial system resulting in spectrum of visceral, haematologic and skeletal symptoms.There are five subtypes, non-neuropathic/adult (Type 1) which is most common,Acute neuropathic/infantile (Type 2), Chronic/subacute neuropathic/juvenile (Type 3) which occurs in first decade of life, Perinatal lethal form (Type 4) and Cardiovascular form.[1]The standardized birth incidence in general population is 0.4%u20135.8/100,000, with prevalence of 0.7%u20131.8/100,000.Type 1 GD (GD1) is most prevalent (90% of times).Especially prevalent in Ashkenazi Jewish population 1:850, and lower in non-Jewish populations, 1:40,000 to 1:86,000 live births.Women in reproductive age group form a large proportion of GD1 population. Pregnancy with GD poses unique challenges with increased risk of anemia, thrombocytopenia and osteonecrosis. The challenges are at all stages of pregnancy and at time of delivery for both the obstetrician and anaesthetist. Here, we report a rare case of pregnancy with type 1 GD, managed with multidisciplinary support with a successful outcome.Case ReportA primigravida 30 years old, in a non-consanguinous marriage, presented at 6.2 weeks of gestation with an enlarged spleen reaching upto umbilicus and a palpable liver [Figure 1]. With no previous significant history. Rest of the examination was normal except thin built and pallor.On ultrasound, massive splenomegaly 25 cms seen and moderate hepatomegaly with Intrauterine live gestation of 6.2 weeks. Hematological investigations revealed pancytopenia. (hemoglobin [Hb] - 9.4 g/dL, white blood cell - 4100 cells/cmm, platelet - 62,000/cmm).A heamatologist was consulted followed by bone marrow biopsy showed numerous large histiocytes with finely fibrillar cytoplasm-crinkled or wrinkled-paper like, expressing CD-68 and TRAP, consistent with diagnosis of GD. Enzyme analysis showed reduced activity of b-glucosidase in leucocytes (16.1% of normal) and elevated levels of chitotriosidase in plasma (72 folds high).Whole genome sequencing of couple revealed a compound heterozygous variant in the GBA gene of patient and normal variant in husband.Patient being asymptomatic, a conservative line of management was followed with regular monitoring of blood counts. Anemia was corrected [Table 1] with parenteral iron - 3 doses.Fetal growth monitoring revealed mild fetal growth restriction but normal doppler flows. She went in spontaneous labor at 36.4 weeks with Hb = 10.8 g/dL and platelet = 1.03 lac/cmm. With normal coagulation profile. There was a massive spleen and liver with risk of splenic rupture and high floating head; normal delivery was not advisable and emergency LSCS under spinal anaesthesia was done. She delivered 2.4 kg healthy male.Blood and platelets were kept reserved and active management of third stage was done with uterotonics.No transfusion was needed and post-partum period was Medical disorders in pregnancy present with challenges for the obstetrician often requiring a multidisciplinary support. We report a rare case of pregnancy with Gaucher%u2019s disease (GD), a lysosomal storage disorder. A 30-year-old primigravida incidentally found massive splenomegaly at her first antenatal visit. Further investigations confirmed diagnosis of Type I GD. Complications included persistent anemia, thrombocytopenia which were but managed conservatively, pregnancy carried till term and delivered by caesarean section. This case report highlights the successful management of GD in pregnancy with a healthy outcome for both mother and baby.Keywords: %u200aGaucher disease, Gaucher cells, Lysosomal storage disorder, splenomegalyA Rare Case of Pregnancy with Gaucher%u2019s DiseasePriti Vyas, Sharayu MirjiDepartment of Obstetrics and Gynecology, Surya Hospital, Santacruz West, Mumbai, Maharashtra, IndiaAbstractCase ReportAddress for correspondence: Priti Vyas, Consultant Obstetrician and Gynecologist, Surya Hospital, Santacruz West, Mumbai, Maharashtra, India. Mobile: 9869428728. E-mail: drpritivyas@gmail.com