Oxycephaly in Mucolipidosis Type 2 (I-Cell Disease) in a Child: Management Issues in a Rare Case, with Review of Literature

Abstract

Introduction

I-cell disease is rare autosomal recessive lysosomal storage disease which is characterized by accumulation of innumerable intracytoplasmatic inclusions in connective tissue cells. It has multisystemic involvement and often leads to a fatal outcome by early childhood. Craniosynostosis can be present in many cases of I-cell disease and can be even the presenting complaint of the patient. This case report emphasizes the importance of multi-departmental collaboration, extensive preoperative workup, and technical nuances in intraoperative and postoperative management of the child.

Case Presentation

We present a case of a 3-year-old child with mucolipidosis type 2 (I-cell disease) with multisutural craniosynostosis managed with fronto-orbital advancement and anterior cranial vault reconstruction. The patient was undertaken for Operative procedure electively with support from neuroanesthesia and ENT (ear, nose, and throat) teams. The patient could not be intubated despite repeated attempts from the neuroanesthesia team owing to complicated oropharyngeal anatomy. So, decision was taken to tracheostomize the patient by the ENT team. After tracheostomy, the patient underwent fronto-orbital advancement and anterior two–third cranial vault remodeling. There was significant improvement in cosmesis of the patient along with cranial vault expansion. However, in the postoperative period, the child developed ARDS (acute respiratory distress syndrome) and wound infection, for which he received intravenous antibiotics and tracheostomy support. The child was discharged after 2 months of hospitalization under stable conditions.

Conclusion

I-cell disease is an autosomal recessive fatal lysosomal storage disorder, with multiple organ system involvement. Craniosynostosis with I-cell disease can also be managed surgically, after judicious evaluation of risks and benefits involved with active involvement of the caretakers.

Keywords

oxycephaly - mucolipidosis - I-cell disease - craniosynostosis

Authors' Contribution

S.G., T.M., and D.G. contributed to the composition of the manuscript. D.G., S.G., T.M., and K.P. were the operating surgeons. G.P. was the chief neuroanesthesiologist during operation. R.L. were the chief pediatrician involved in preoperative assessment and postoperative care of the patient. All authors reviewed the manuscript.

Publikationsverlauf

Artikel online veröffentlicht:
02. April 2025

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