Abstract
A 28-year-old G3 P1 SAB1 female with no prior health concerns was found to have a foetus with short femurs on prenatal ultrasound following an abnormal maternal serum screen result. Fluid obtained by amniocentesis revealed an elevated α-fetoprotein level with absence of an acetylcholinesterase band and normal male karyotype (46,XY). Follow-up ultrasound 3 weeks later again demonstrated short femur lengths, but no other abnormalities. At birth, the child was noted to have multiple dysmorphic features, including short humeri and femurs, coarse facial features, retrognathia and yellowish hypertrophic gums in addition to hyperbilirubinaemia and thrombocytopenia. Radiological studies demonstrated bony demineralization with profound diaphyseal cloaking in the long bones. Genetic testing diagnosed I-cell disease.
Highlights
Mucolipidosis II (I-cell disease) is a lysosomal storage disorder caused by deficiency of N-acetylglucosamine-1phosphotransferase
The only abnormality found on prenatal ultrasound was bilateral short femora (< 2.5%)
In the absence of a known family history, prenatal diagnosis of I-cell disease remains difficult as many other conditions can present with similar findings
Summary
Mucolipidosis II (I-cell disease) is a lysosomal storage disorder caused by deficiency of N-acetylglucosamine-1phosphotransferase. We present a case with both prenatal and early postnatal findings of the disease. DISCUSSION I-cell disease is a rare lysosomal storage disorder that typically remains undiagnosed until later in the first year of life, as facial features coarsen, growth failure becomes increasingly apparent and the Hurler-like clinical picture develops.[3,5] It is caused by mutations in the GNPTAB gene, located on chromosome 12, and inherited in an autosomal recessive manner.
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