Galactosialidosis presenting as non-immune hydrops in a newborn: A case report

Anu Sharma, Radhika Sujatha, S. H, Krishna Neisseril, Akash G. Nair
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引用次数: 1

Abstract

Galactosialidosis is a rare autosomal recessive lysosomal storage disorder (LSD). It results from defects in glycoprotein degradation due to mutation in a single gene, encoded by the protective protein cathepsin A, (CTSA), located on chromosome 20q13.12. Most cases of non-immune hydrops fetalis (NIHF) nowadays being recognized are due to cardiac, lymphatic dysplasia, and hematological disorders. Inborn errors of metabolism account for NIHF in 1.3% of patients. Among metabolic disorders, around 14 LSDs have been reported as being associated with NIHF and congenital ascites. In the present case, we report an early infantile form of galactosialidosis with a novel homozygous miss-sense mutation c.319 A>C (p. Ser107 Arg) in exon 3 of CTSA gene in a newborn who presented as non-immune hydrops. The baby also had coarse facies, wide anterior fontanelle, hypertelorism, bilateral congenital talipes equinovarus, hepatosplenomegaly, nephrocalcinosis, and disproportionately small limbs with metaphyseal irregularity. Gradually, he developed worsening cardiac functions and cardiomyopathy and succumbed to death on day 47 of life. Being an autosomal recessive disorder, it can recur in the next pregnancy and treatment is mainly supportive. Targeted prenatal diagnostics in subsequent pregnancies can help in early diagnosis.
新生儿半乳糖唾液中毒表现为非免疫性水肿1例报告
半乳糖唾液中毒是一种罕见的常染色体隐性溶酶体贮积症(LSD)。它是由位于染色体20q13.12上的保护性蛋白组织蛋白酶a (CTSA)编码的单个基因突变导致糖蛋白降解缺陷引起的。目前公认的大多数非免疫性积水胎儿(NIHF)是由于心脏、淋巴发育不良和血液系统疾病引起的。在1.3%的患者中,先天性代谢错误导致了NIHF。在代谢性疾病中,约有14种lsd被报道与NIHF和先天性腹水有关。在本病例中,我们报告了一种新型纯合缺失意义突变c.319的早期婴儿形式的半乳糖唾液中毒非免疫性水肿新生儿CTSA基因外显子A>C (p. Ser107 Arg)。婴儿还表现为相粗、前囟门宽、远端过远、双侧先天性马蹄内翻、肝脾肿大、肾钙质沉着、四肢不成比例地小且干骺端不规则。患者逐渐出现心功能恶化和心肌病,于出生后第47天死亡。作为一种常染色体隐性遗传病,它可以在下次怀孕时复发,治疗主要是支持性的。在随后的怀孕中进行有针对性的产前诊断有助于早期诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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