Mucopolysaccharidosis type I and craniosynostosis
Jawad Ziyadeh1, Martine Le Merrer, Matthieu Robert
1Craniofacial Unit, Department of Pediatric Neurosurgery, Hôpital Universitaire Necker-Enfants Malades, APHP, 149 Rue de Sèvres, 75015, Paris, France, jawad.ziyadeh@neurochirurgie.fr.
Acta Neurochirurgica
|August 7, 2013
Summary
Mucopolysaccharidosis type-I (MPS-I), a metabolic disorder, was linked to craniosynostosis in a rare case. This association underscores the need for comprehensive evaluations in children with MPS-I.
Area of Science:
- Genetics and rare diseases
- Metabolic disorders
- Pediatric medicine
Background:
- Mucopolysaccharidosis type-I (MPS-I) is a lysosomal storage disorder caused by alpha-L-iduronidase deficiency.
- Glycosaminoglycan accumulation in MPS-I affects multiple organs, leading to physical and functional impairments.
Observation:
- A 2.5-year-old girl presented with macrocrania and was diagnosed with MPS-I (Hurler-Scheie subtype).
- Clinical and radiological findings revealed scaphocephaly and dysmorphic facial features consistent with MPS-I.
- Fundoscopy and ICP monitoring confirmed intracranial hypertension, which was surgically managed.
Findings:
- This case represents the first reported association between MPS-I (Hurler-Scheie subtype) and craniosynostosis (scaphocephaly).
- The patient exhibited significant intracranial hypertension secondary to the craniosynostosis.
Implications:
- Highlights the importance of recognizing craniosynostosis in patients with MPS-I.
- Emphasizes the necessity of multidisciplinary team evaluations, including craniofacial, metabolic, and ophthalmologic specialists.
- Suggests that early detection and management of associated conditions like craniosynostosis may improve patient outcomes.
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