Acta Scientific Clinical Case Reports

Case Report Volume 2 Issue 8

An Interesting Case of Facial Dysmorphism with Hepatosplenomegaly

Meenakshi Cheripady Nayanar1*, Neeraj Vinayakumar2 and Deepa A Banker3

1Consultant Paediatrician, Dr V C Nayanar Memorial Hospital, Payyanur,Kannur, Kerala, India
2Consultant gastroenterologist, Sri Ramakrishna Ashrama Charitable Hospital, Trivandrum, Kerala, India
3Department of Paediatrics, Smt NHL Municipal medical college, Ahmedabad, Gujarat, India

*Corresponding Author: Meenakshi Cheripady Nayanar, Consultant Paediatrician, Dr V C Nayanar Memorial Hospital, Payyanur, Kannur, Kerala, India.

Received: June 30, 2021; Published: July 17, 2021

Citation: Meenakshi Cheripady Nayanar., et al. “An Interesting Case of Facial Dysmorphism with Hepatosplenomegaly". Acta Scientific Clinical Case Reports 2.8 (2021): 55-56.

Abstract

Mucopolysaccharidosis (MPS) is a rare lysosomal storage disorder with an incidence of 1 in 2 lakhs. It is characterised by deposition of GAGs in various organs due to specific lysosomal enzyme deficiency. Early diagnosis and multidisciplinary approach is vital in preventing mortality and morbidity. If left untreated, death can result by 10 years due to cardiorespiratory failure. Discouraging consanguineous marriage and genetic counselling is important in reducing the incidence of the disease. Here, we report the case of a 5 year old child who presented with growth retardation.

Keywords: GAG (Glycosaminoglycans); Hurler’s Syndrome; MPS-1 (Mucopolysaccharidosis Type-1); Multidisciplinary Treatment (MDT)

Bibliography

  1. Behrman RE and Vaughan III VC. “Nelson textbook of pediatrics”. WB Saunders company (1983).
  2. Dabrowska S., et al. “Immunomodulatory and Regenerative Effects of Mesenchymal Stem Cells and Extracellular Vesicles: Therapeutic Outlook for Inflammatory and Degenerative Diseases”. Frontiers in Immunology 11 (2021): 3809.
  3. Valayannopoulos V. “Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expression”. Handbook of Clinical Neurology 113 (2013): 1851-1857.
  4. Sista RS., et al. “Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform”. Clinica Chimica Acta 424 (2013): 12-18.
  5. Shapiro J., et al. “Airway obstruction and sleep apnea in Hurler and Hunter syndromes”. Annals of Otology, Rhinology and Laryngology5 (1985): 458-461.

Copyright: © 2021 Meenakshi Cheripady Nayanar., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



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