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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
Summary
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.
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.