International Journal of Molecular and Cellular Medicine
مجله بین المللی سلولی و مولکولی
Int J Mol Cell Med
Medical Sciences
http://ijmcmed.org
1
admin
2251-9637
2251-9645
10.22088/IJMCM.BUMS
en
jalali
1391
9
1
gregorian
2012
12
1
1
3
online
1
fulltext
en
Osteopetrosis a report of two Iranian patients with autosomal recessive inheritance pattern
Genetics & Disease
Genetics & Disease
Case Report
Case Report
In the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration, typically associated with extramedullary hemopoiesis and hepatosplenomegaly, results in anemia and thrombocytopenia and nerve entrapment accounts for progressive blindness and hearing loss. Severe infantile or malignant osteopetrosis is the worst type of the disease which has poor prognosis. In this study we report two cases of severe infantile or malignant type of the disease in an Iranian family.
Our two patients were children of a family where the wife is a grandchild of the husband’s aunt. The first patient had episodes of seizure and spastic in extremities 2 weeks after birth. Gradually, the patient showed upper and lower respiratory problems and horizontal nystagmus. X-Ray of hand and foot showed widening and increased bone density and physical examination showed hepatosplenomegallay and petechiae in extremities. The patient expired due to cardiopulmonary arrest. The second patient had also episodes of seizure 2 weeks after birth. Gradually, dissymmetry in eyes appeared and blindness was confirmed by ophthalmologist. Finally the patient expired because of severe pneumonia.
Autosomal recessive osteopetrosis has been reported in most ethnic groups although it is more frequently seen in ethnic groups where consanguinity is common. We report for the first time two cases of severe infantile or malignant type of the disease in an Iranian family.
Osteopetrosis, Autosomal recessive, Consanguinity
173
177
http://ijmcmed.org/browse.php?a_code=A-10-72-1&slc_lang=en&sid=1
Saeid
Morovvati
morovvati@hotmail.com
10031947532846002313
10031947532846002313
Yes
Research Center for Human Genetics, Baqiyatallah University of Medical Sciences, Mollasadra St, Tehran (postal box: 19395-5487), Iran
sara
Amirpour Amaraii
saraamra@yahoo.com
10031947532846002314
10031947532846002314
No
Tehran Medical Branch, Islamic Azad University, Khaghani st, Shariati Ave, Tehran, Iran
hosna
Zahed shekarabi
10031947532846002315
10031947532846002315
No
Tehran Medical Branch, Islamic Azad University, Khaghani st, Shariati Ave, Tehran, Iran
nastaran
Shahbazi
10031947532846002316
10031947532846002316
No
Tehran Medical Branch, Islamic Azad University, Khaghani st, Shariati Ave, Tehran, Iran