Morquio syndrome or something cryptic: think!
DOI:
https://doi.org/10.18203/issn.2454-2156.IntJSciRep20221054Keywords:
Mucopolysaccharidosis, Dyggve-Melchior-Clausen syndrome, Rhizomelia, Intellectual disabilityAbstract
Morquio syndrome (MS) or mucopolysaccharidosis type IV A is an autosomal recessive lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase. The disorder is marked by characteristic physical features, skeletal abnormalities and normal intellect. We report a nine year old boy who presented with coarse facial features, barrel shaped chest, rhizomelic limb shortening and intellectual disability. Along with facial features, the initial radiological survey pointed to the diagnosis of MS. However when the urinary glycosaminoglycans came to be negative, the radiographs and clinical features were reviewed which led us to a rare syndrome with significantly different treatment and prognosis. A pediatrician should keep a high index of suspicion to pick up mimics of mucopolysaccharidosis as the variable prognosis and management protocol might be life saving in some cases.
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Tomatsu S, Yasuda E, Patel P. Morquio A Syndrome: Diagnosis and Current and Future Therapies. Pediatr Endocrinol Rev PER. 2014;12:141-51.
Biswas SN, Patra S, Chakraborty PP. Mucopolysaccharidosis type IVA (Morquio A): a close differential diagnosis of spondylo-epiphyseal dysplasia. BMJ Case Rep. 2017;2017:bcr2017221156.
Dyggve HV, Melchior JC, Clausen J. Morquio-Ullrich’s Disease. Arch Dis Child. 1962;37(195):525-34.
Paupe V, Gilbert T, Le Merrer M, Munnich A. Recent advances in Dyggve-Melchior-Clausen syndrome. Mol Genet Metab. 2004;83:51-9.
Girisha KM, Cormier-Daire V, Heuertz S. Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome. Euro J Med Gen. 2008;51:251-6.
Kaufman RL, Rimoin DL, McAlister WH. The Dyggve-Melchior-Clausen syndrome. Birth Defects Orig Artic Ser. 1971;7(1):144-9.
Coëslier A, Boute-Bénéjean O, Moerman A, Fron D, Manouvrier-Hanu S. [Dyggve-Melchior-Clausen syndrome: differential diagnosis of mucopolysaccharidosis type IV or Morquio disease]. Archives de Pediatrie : Organe Officiel de la Societe Francaise de Pediatrie. 2001;8:838-42.
Rodríguez Rodríguez CM, Pineda Marfa M, Duque R, Cormier-Daire V. [Dyggve-Melchior-Clausen syndrome, diagnostic difficulty due to it similarity to Morquio disease]. Neurologia (Barcelona, Spain). 2007;22:126-9.
Gupta V, Kohli A, Dewan V. Dyggve melchior clausen syndrome. Indian Pediatr. 2010;47:973-5.
Kenis V, Baindurashvili A, Melchenko E, Grill F, Al Kaissi A. Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome. Ger Med Sci. 2011;9:Doc25.
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