Child with mucopolysaccharidosis type IV: Morquio syndrome

Abstract is not required for Clinical Imagesis not required for Clinical Images (This page in not part of the published article.) International Journal of Case Reports and Images, Vol. 6 No. 10, October 2015. ISSN – [0976-3198] Int J Case Rep Images 2015;6(10):658–660. www.ijcasereportsandimages.com Akhtar et al. 658 CASE REPORT OPEN ACCESS Child with mucopolysaccharidosis type IV: Morquio syndrome Ali Akhtar, Sabina Manandhar, Eswat Ahmad

independently. In 1960, this disorder was characterized as MPS caused by the lysosomal accumulation of GAGs and urinary excretion of the keratan sulfate [1].
Matalon et al. discovered MPS IVA as caused by deficiency of galactosamine-6-sulfate. Arbisser et al. described a patient with normal N-acetylgalactosamine-6-sulfate but deficient lysosomal b-galactosidase known later to be MPSIVB, the milder one [1].
Patients with MPS IVA appear normal at birth with normal intellect and experience clinical onset of disease during early childhood. The most common presentation is skeletal deformity and growth retardation in the second or third decade of life [2,3]. The child in our case was No dental abnormalities were noted in our case. In 2012, a familial tendency of unknown etiology has been described by Rekha et al. where three siblings in the same family were affected with the syndrome [7]. In 1952, Garn and Hurme described abnormalities of the teeth in nine siblings. Of them, three siblings showed thin enamel layer and in some places the dentine actually showed through. The surface was marked by numerous pits, and the enamel appeared to be structurally weak since it exhibited a tendency to fracture and flake off. In contrast, the six unaffected sibs had normal dentitions [8]. In our case, no other siblings were effected and history of consanguineous marriage was not elucidated.

CliNiCAl imAgES PEER REviEwEd | OPEN ACCESS
There are two treatment options for patients with MPS -Hematopoietic stem cell transplantation and recombinant intravenous enzyme replacement therapy. Early diagnosis and treatment can improve patient outcome and prolong survival [9].
This report outlines the clinical and radiological findings found in a case of Morquio syndrome. An accurate diagnosis typically requires the recognition of specific clinical and/or radiographic signs and symptoms together with laboratory confirmation. The radiologist can play a critical role in ensuring that an accurate diagnosis is reached expeditiously by raising suspicion of an MPS disorder if dysostotic multiplex changes are evident.
coNcLUsIoN Mucopolysaccharidosis (MPS) is a multisystem disorder and its diagnosis is based on clinical finding. Though it is a rare disease but its appropriate management and investigations are required to reach its diagnosis and treatment. Understanding the symptoms and progressive nature of MPS IV will provide a solid basis for evaluating the efficacy of treatment modalities. We are thankful to the patient and her parents. We also acknowledge Dr. Neelum for her assistance and time.

author contributions
Ali Akhtar -Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for

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