Pediatrics, Career Institute of Medical Sciences and Hospital, Lucknow, Uttar Pradesh, India.
Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
BMJ Case Rep. 2024 Oct 1;17(10):e260906. doi: 10.1136/bcr-2024-260906.
Hydrops fetalis is an abnormal accumulation of fluid in two or more foetal compartments which is easily detected using prenatal ultrasonography. It can be categorised into immune and non-immune. The non-immune hydrops can result from various aetiologies, including cardiovascular, respiratory, genitourinary infections, chromosomal anomalies and metabolic causes. The metabolic causes, including lysosomal storage disorders (LSD), are increasingly being recognised as the causes of non-immune hydrops. The hydrops fetalis associated with metabolic disorders is usually severe with huge ascites, hepatosplenomegaly, thick skin, renal abnormalities, increased nuchal translucency, renal abnormalities and skeletal deformities. In this report, we describe a case of LSD, that is, galactosialidosis presenting as non-immune hydrops and its diagnosis. In utero diagnosis of the disorder without an index case is challenging. The definitive diagnosis is important for planning and management of future conceptions.
胎儿水肿是指两个或两个以上胎儿腔室中异常积聚液体，通过产前超声很容易检测到。它可以分为免疫性和非免疫性。非免疫性胎儿水肿可由多种病因引起，包括心血管、呼吸、泌尿生殖道感染、染色体异常和代谢原因。越来越多的代谢原因，包括溶酶体贮积症（LSD），被认为是非免疫性胎儿水肿的原因。与代谢紊乱相关的胎儿水肿通常很严重，伴有大量腹水、肝脾肿大、皮肤增厚、肾脏异常、颈项透明层增厚、肾脏异常和骨骼畸形。在本报告中，我们描述了一例 LSD，即半乳糖脑苷脂病，表现为非免疫性胎儿水肿及其诊断。在没有索引病例的情况下进行宫内诊断具有挑战性。明确的诊断对于规划和管理未来的妊娠非常重要。
