(1) Metabolic Unit, Great Ormond Street Hospital, Great Ormond Street, WC1N 3JH London , UK;(2) Department of Radiology, Great Ormond Street Hospital, London, UK
Abstract:
Mucolipidosis III is a genetically heterogeneous lysosomal disorder characterised by progressive symptoms and signs, the commonest being skeletal pain due to bony destruction. We describe a patient who developed severe destruction of the temporomandibular joints leading to difficulties with speech and feeding, necessitating gastrostomy insertion. Conclusion:Temporomandibular joint involvement has not been previously reported in mucolipidosis III.
