title: Craniosynostosis in a child with I-cell disease: The need for genetic analysis before contemplating surgery in craniosynostosis.
abstract: 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.
authors.affiliation: Department of Neurosurgery, Nizam's Institute of Medical Sciences, Panjagutta, Hyderabad, Andhra Pradesh, India.
authors.forename: Lakshmanarao
authors.initials: L
authors.lastname: Chittem
authors.affiliation: Department of Neurosurgery, Nizam's Institute of Medical Sciences, Panjagutta, Hyderabad, Andhra Pradesh, India.
authors.forename: Suchanda
authors.initials: S
authors.lastname: Bhattacharjee
authors.affiliation: Department of Medical Genetics, Nizam's Institute of Medical Sciences, Panjagutta, Hyderabad, Andhra Pradesh, India.
authors.forename: Prajnya
authors.initials: P
authors.lastname: Ranganath
keywords: Craniosynostosis; I-cell disease; genetic analysis