Open AccessCraniosynostosis in a child with I-cell disease: The need for genetic analysis before contemplating surgery in craniosynostosis
Author(s) -
Lakshmanarao Chittem,
Suchanda Bhattacharjee,
Prajnya Ranganath
Publication year - 2014
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.131480
Subject(s) - craniosynostosis , medicine , disease , craniosynostoses , corrective surgery , surgery , pediatrics , pathology
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.