OSTEOPETROSIS -- A CASE REPORT

Dr(Col) Om Prakash Singh, Dr Anil Kumar Saroj, Prof R Narain

Abstract


Osteopetrosis is a very uncommon genetic disorder with characteristic features of increased bone density due to impaired bone resorption by osteoclasts. This leads to increased bone density. It is classified into three forms: Infantile malignant autosomal recessive (AR) Osteopetrosis, intermediate (AR) Osteopetrosis and autosomal dominant (AD) Osteopetrosis. Incidence of infantile malignant AR is 1/2, 00,000 and if untreated has a fatal outcome. The condition is commonly diagnosed in infancy with symptoms of significant hematological abnormalities and bone marrow failure, hepatosplenomegaly, macrocephaly with frontal bossing and bone fractures. As   malignant infantile form of Osteopetrosis is very rare, we are reporting  a case of Malignant Infantile Osteopetrosis who presented to us with convulsions and a bulging fontanel , anemia and  melaena at eight  months  of age.

Keywords


Osteopetrosis, bone resorption, autosomal dominant (AD)

Full Text:

PDF

References


Mazzolari E, Forino C, Razza A, Porta F, Villa A, Notarangelo LD. Asingle-center experience in 20 patients with infantile malignant Osteopetrosis. Am J Hematol. 2009;84:473–9.(Pub Med)

Phadke SR, Gupta A, Pahi J, Pandey A, Gautam P, Agarwal SS. Malignant recessive Osteopetrosis. Indian Pediatric. 1999;36:69–74. (Pub Med)

Phadke SR, Fischer B, Gupta N, Ranganath P, Kabra M, Kornak U. Novel mutations in Indian patients with autosomal recessive infantile malignant Osteopetrosis. Indian J Med Res. 2010;131:508–14.( Pub Med)

Gerritsen EJ, Vossen JM, van LooI H, Hermans J, Helfrich MH, Griscelli C, et al. Autosomal recessive osteopetrosis: Variability offending sat diagnosis and during the natural course. Pediatrics. 1994;93:247–53.(Pub Med)

Del Fattore A, Peruzzi B, Rucci N, Recchia I, Cappariello A, Longo M, et al. Clinical, genetic, and cellular analysis of 49 osteoporotic patients: Implications for diagnosis and treatment. J Med Genet. 2006;43:315–25 (Pub Med)

Srinivasan M, Abinun M, Cant AJ, Tan K, Oakhill A, Steward CG. Malignant infantile Osteopetrosis presenting with neonatal hypocalcaemia. Arch Dis Child Fetal Neonatal Ed. 2000;83:F21–3. (Pub Med)


Refbacks

  • There are currently no refbacks.