Vol. 5 (12) pp. 1852-1854 DOI: 10.21474/IJAR01/6154

MALIGNANT INFANTILE OSTEOPETROSIS (MIOP)-A RARE CASE REPORT

and
  • Associate Professor,2Junior Resident.
  • Department of Pediatrics, M.K.C.G Medical College, Berhampur, Ganjam, Odisha- 760004, India.
3 Downloads 95 Views
Crossref

Download Full Paper (PDF)

Abstract

Malignant Infantile Osteopetrosis (MIOP) is a rare genetic disorder due to osteoclast abnormal activity. We report a case of seven month-old female patient, diagnosed as MIOP while investigating the cause of hepatosplenomegaly associated with hydrocephalus.Systemic examination showed hepatosplenomegaly, growth failure and developmental milestones delay. Ophthalmic exam revealed bilateral optic atrophy.Chest radiography detected generalized dense bone. We report a rare ocular finding of primary optic atrophy in a rare case of malignant variety of osteopetrosis.The patient received supportive treatment. MIOP should be kept in mind as a rare cause of hepatosplenomegaly. Early diagnosis and timely Hematopoietic stem cell transplantation are the only curative approach for an otherwise fatal disease.

Keywords

Article Analytics

References

  1. Frattini A, Orchard PJ, Sobacchi C, et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 2000; 25:343?6.
  2. Whyte MP. Osteopetrosis. In: Royce PM, Steinman B, editors.?Connective Tissue and its Heritable Disorders: Medical, Genetic, and Molecular Aspects.2nd ed. New York: Wiley-Liss, Inc.; 2002. pp. 753?70.
  3. Venkateshwar V, Voidya A, Roy P, et al. Osteopetrosis.?Med J Armed Forces India.?2003;59(4):344?6.
  4. Phadke SR, Gupta A, Pahi J, Pandey A, Gautam P, Agarwal SS. Malignant recessive osteopetrosis.?Indian Paediatr.?1999;36(1):69?74.
  5. Subramaniam A, Singh A, Chavan M, et al. Autosomal recessive osteopetrosis: case report of two siblings.?Oral Radiol.?2008;24(2):80?4
  6. Gerritsen EJ, Vossen JM, Fasth A, et al. Bone marrow transplantation for autosomal recessive Osteopetrosis : A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group.? J Pediatr 1994; 125:896-902.
  7. Solh H, Da Cunha AM, Giri N, et al. Bone marrow transplantation for infantile malignant osteopetrosis. J Pediatr Hematol Oncol 1995; 17:350?5.
  8. Key LL, Ries WL, Rodriguiz RM, Hatcher HC. Recombinant human interferon gamma therapy for osteopetrosis. J Pediatr 1992; 121:119?24.
  9. Besbas N, Draaken M, Ludwig M, et al. A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.?Eur J Pediatr.?2009;168(12):1449?54.

How to Cite This Article

Sunil Kumar Agarwalla and Nasreen Ali. (2017); MALIGNANT INFANTILE OSTEOPETROSIS (MIOP)-A RARE CASE REPORT, Int. J. of Adv. Res., 5 (12), 1852-1854, ISSN 2320-5407. DOI: https://doi.org/10.21474/IJAR01/6154

Corresponding Author

Nasreen Ali
Department of Pediatrics, M.K.C.G Medical College, Berhampur, Ganjam, Odisha- 760004, India
Creative Commons Attribution 4.0 This work is licensed under a Creative Commons Attribution 4.0 International License.