Alberta Health Services, Calgary, AB, Canada.
Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Canada.
Indian J Pediatr. 2024 Dec;91(12):1278-1280. doi: 10.1007/s12098-024-05073-6. Epub 2024 Feb 20.
I-cell disease (Mucolipidosis Type II) is a rare lysosomal storage disorder caused by GNPTAB gene defects, leading to severe morbidity and mortality. The authors present the case of a neonate born at 38 wk gestational age, with suspected skeletal dysplasia during pregnancy and a complex clinical and laboratory presentation after birth. This is a rare case, and its diagnosis was made through placental pathology, which revealed the condition called mucolipidosis Type II. To the best of authors' knowledge, this is one of the few cases diagnosed in the neonatal period with placental pathology globally and the first in Canada, highlighting the significance of placental pathology for the diagnosis of these rare conditions and future counseling of the parents. In conclusion, mucolipidosis Type II is a rare condition in neonates. Early diagnosis in neonates can be made through placental pathology for parental counseling.
I 细胞病（黏脂贮积症 II 型）是一种罕见的溶酶体贮积症，由 GNPTAB 基因突变引起，导致严重的发病率和死亡率。作者报告了一例孕 38 周出生的新生儿，在妊娠期间疑似骨骼发育不良，出生后出现复杂的临床和实验室表现。这是一个罕见的病例，通过胎盘病理学诊断为黏脂贮积症 II 型。据作者所知，这是全球少数几个通过胎盘病理学在新生儿期诊断的病例之一，也是加拿大首例，强调了胎盘病理学对这些罕见疾病的诊断和未来对父母的咨询的重要性。总之，黏脂贮积症 II 型在新生儿中较为罕见。通过胎盘病理学可以在新生儿期早期诊断，为父母提供咨询。
