MUCOLIPIDOSIS II INFANTS PRESENTING WITH SKELETAL DEFORMITIES MIMICKING RICKETS AND A NEW MUTATION IN GNPTAB GENE

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Mucolipidosis II (ML II), or I-cell disease, is a rare, severe lysosomal storage disorder.
• It stems from deficient UDP-N-acetylglucosamine-1-phosphotransferase activity, impairing lysosomal enzyme trafficking.
• This leads to progressive multisystem deterioration and early mortality.

Observation:

• ML II diagnosis in infants is challenging due to varied clinical presentations and phenotypic overlap.
• Newborns with ML II can present with physical, biochemical, and radiographic findings similar to rickets.
• This diagnostic challenge means ML II is frequently missed, often presenting as a rickets-like picture.

Findings:

• This study details two neonatal ML II cases that mimicked rickets.
• Clinical, metabolic, and imaging findings were evaluated, alongside a literature review.
• Difficulties in diagnosing this rare condition were emphasized.

Implications:

• Highlighting the rickets-like presentation of ML II is critical for early diagnosis.
• Improved diagnostic awareness can prevent delayed treatment and improve outcomes for affected infants.
• Further research into diagnostic markers for ML II is warranted.