Mucolipidosis II presenting as severe neonatal hyperparathyroidism.

Détails

Ressource 1Télécharger: serval:BIB_33169.P001 (359.44 [Ko])
Etat: Public
Version: de l'auteur
Licence: Non spécifiée
It was possible to publish this article open access thanks to a Swiss National Licence with the publisher.
ID Serval
serval:BIB_33169
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Mucolipidosis II presenting as severe neonatal hyperparathyroidism.
Périodique
European Journal of Pediatrics
Auteur(s)
Unger S., Paul D.A., Nino M.C., McKay C.P., Miller S., Sochett E., Braverman N., Clarke J.T., Cole D.E., Superti-Furga A.
ISSN
0340-6199 (Print)
ISSN-L
0340-6199
Statut éditorial
Publié
Date de publication
2005
Peer-reviewed
Oui
Volume
164
Numéro
4
Pages
236-243
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
UNLABELLED: Mucolipidosis II (ML II or I-cell disease ) (OMIM 252500) is an autosomal recessive lysosomal enzyme targeting disorder that usually presents between 6 and 12 months of age with a clinical phenotype resembling Hurler syndrome and a radiological picture of dysostosis multiplex. When ML II is severe enough to be detected in the newborn period, the radiological changes have been described as similar to hyperparathyroidism or rickets. The biological basis of these findings has not been explored and few biochemical measurements have been recorded. We describe three unrelated infants with ML II who had radiological features of intrauterine hyperparathyroidism and biochemical findings consistent with severe secondary neonatal hyperparathyroidism (marked elevation of serum parathyroid hormone and alkaline phosphatase levels). The vitamin D metabolites were not substantially different from normal and repeatedly normal calcium concentrations excluded vitamin D deficiency rickets and neonatal severe hyperparathyroidism secondary to calcium-sensing receptor gene mutations (OMIM 239200). The pathogenesis of severe hyperparathyroidism in the fetus and newborn with ML II is unexplained. We hypothesize that the enzyme targeting defect of ML II interferes with transplacental calcium transport leading to a calcium starved fetus and activation of the parathyroid response to maintain extracellular calcium concentrations within the normal range.
CONCLUSION: Newborns with mucolipidosis II can present with radiological and biochemical signs of hyperparathyroidism. Awareness of this phenomenon may help in avoiding diagnostic pitfalls and establishing a proper diagnosis and therapy.
Mots-clé
Bone Diseases, Metabolic/complications, Bone Diseases, Metabolic/radiography, Diagnosis, Differential, Fatal Outcome, Female, Humans, Hyperparathyroidism/diagnosis, Infant, Newborn, Male, Mucolipidoses/diagnosis, Mucolipidoses/physiopathology
Pubmed
Web of science
Open Access
Oui
Création de la notice
19/11/2007 13:32
Dernière modification de la notice
01/10/2019 7:17
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