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Related Experiment Videos

Mucolipidosis II presenting as severe neonatal hyperparathyroidism.

Sheila Unger1, David A Paul, Michelle C Nino

  • 1Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada. Sheila.Unger@hospvd.ch

European Journal of Pediatrics
|December 8, 2004
PubMed
Summary

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Mucolipidosis II (ML II) in newborns can mimic hyperparathyroidism, presenting with bone and biochemical abnormalities. This highlights a potential diagnostic challenge in infants with this rare lysosomal storage disorder.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mucolipidosis II (ML II), or I-cell disease, is an autosomal recessive lysosomal enzyme targeting disorder.
  • Typical presentation occurs between 6-12 months with Hurler syndrome-like features and dysostosis multiplex.

Observation:

  • Severe ML II in newborns can manifest with radiological signs resembling intrauterine hyperparathyroidism or rickets.
  • Three unrelated infants with ML II exhibited radiological features of intrauterine hyperparathyroidism and biochemical evidence of severe secondary neonatal hyperparathyroidism.

Findings:

  • Marked elevations in serum parathyroid hormone and alkaline phosphatase were observed.
  • Normal vitamin D metabolites and calcium levels excluded vitamin D deficiency rickets and neonatal hyperparathyroidism due to calcium-sensing receptor gene mutations.

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Implications:

  • The study suggests a potential link between ML II's enzyme targeting defect and fetal calcium transport, leading to secondary hyperparathyroidism.
  • Increased awareness of these neonatal presentations can aid in accurate diagnosis and management of ML II, preventing diagnostic errors.