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September 28, 2025OSMANGAZİ JOURNAL OF MEDICINEOpen Access

A Rare Case Report OF A Newborn That May Be Confused With Rickets Aad Other Metabolic Bone Dısorders: I-Cell Disease

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Authors

HŞHüseyin ŞimşekFırat UniversityMAMustafa AkçalıSağlık Bilimleri ÜniversitesiMTMehtap Durukan TosunMardin Artuklu University

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Implication

This rare case highlights potential misdiagnosis of I cell disease as rickets, suggesting careful evaluation of skeletal abnormalities.

Key Points

  • I cell disease can present with symptoms similar to rickets, complicating diagnosis in newborns.
  • The disorder is defined by skeletal abnormalities and is caused by a deficiency in a specific enzyme.
  • Clinical symptoms such as intrauterine growth retardation can be mistaken for other metabolic bone disorders.
  • Early detection and management are crucial to improve outcomes in affected individuals.

Cite This Study

Şimşek et al. (2025) studied this question.

synapsesocial.com/papers/68d909fc41e1c178a14f5d14https://doi.org/10.20515/otd.1656358
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature2012 · 17 citations
  2. 2Characterization of mesenchymal stem cells in mucolipidosis type II (I-cell disease)2019 · 7 citations
  3. 3Genetic insights into the mechanisms of Fgf signaling2016 · 246 citations
  4. 4Human Hypertension Caused by Mutations in WNK Kinases2001 · 1,502 citations