Craniosynostosis in a child with I-cell disease: The need for genetic analysis before contemplating surgery in craniosynostosis

We are reporting a rare case of I-cell disease presenting with craniosynostosis. An 11-month-old child presented with abnormal head shape, developmental delay and bent bones. We planned for corrective surgery for craniosynostosis, but on genetic analysis I-cell disease was confirmed. After explainin...

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Autores principales: Chittem, Lakshmanarao, Bhattacharjee, Suchanda, Ranganath, Prajnya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040029/
https://www.ncbi.nlm.nih.gov/pubmed/24891900
http://dx.doi.org/10.4103/1817-1745.131480
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author Chittem, Lakshmanarao
Bhattacharjee, Suchanda
Ranganath, Prajnya
author_facet Chittem, Lakshmanarao
Bhattacharjee, Suchanda
Ranganath, Prajnya
author_sort Chittem, Lakshmanarao
collection PubMed
description We are reporting a rare case of I-cell disease presenting with craniosynostosis. An 11-month-old child presented with abnormal head shape, developmental delay and bent bones. We planned for corrective surgery for craniosynostosis, but on genetic analysis I-cell disease was confirmed. After explaining the prognosis of I-cell disease, parents denied surgery. This case report emphasizes the fact that syndromic evaluation of craniosynostosis is very much essential before proceeding for corrective surgery.
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spelling pubmed-40400292014-06-02 Craniosynostosis in a child with I-cell disease: The need for genetic analysis before contemplating surgery in craniosynostosis Chittem, Lakshmanarao Bhattacharjee, Suchanda Ranganath, Prajnya J Pediatr Neurosci Case Report We are reporting a rare case of I-cell disease presenting with craniosynostosis. An 11-month-old child presented with abnormal head shape, developmental delay and bent bones. We planned for corrective surgery for craniosynostosis, but on genetic analysis I-cell disease was confirmed. After explaining the prognosis of I-cell disease, parents denied surgery. This case report emphasizes the fact that syndromic evaluation of craniosynostosis is very much essential before proceeding for corrective surgery. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4040029/ /pubmed/24891900 http://dx.doi.org/10.4103/1817-1745.131480 Text en Copyright: © Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Chittem, Lakshmanarao
Bhattacharjee, Suchanda
Ranganath, Prajnya
Craniosynostosis in a child with I-cell disease: The need for genetic analysis before contemplating surgery in craniosynostosis
title Craniosynostosis in a child with I-cell disease: The need for genetic analysis before contemplating surgery in craniosynostosis
title_full Craniosynostosis in a child with I-cell disease: The need for genetic analysis before contemplating surgery in craniosynostosis
title_fullStr Craniosynostosis in a child with I-cell disease: The need for genetic analysis before contemplating surgery in craniosynostosis
title_full_unstemmed Craniosynostosis in a child with I-cell disease: The need for genetic analysis before contemplating surgery in craniosynostosis
title_short Craniosynostosis in a child with I-cell disease: The need for genetic analysis before contemplating surgery in craniosynostosis
title_sort craniosynostosis in a child with i-cell disease: the need for genetic analysis before contemplating surgery in craniosynostosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040029/
https://www.ncbi.nlm.nih.gov/pubmed/24891900
http://dx.doi.org/10.4103/1817-1745.131480
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