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.
Keywords: Dwarfism; GNPTAB related disorders; Infant; Mucolipidosis type II; Newborn; Secondary hyperparathyroidism.
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