Osteopetrosis presenting with neonatal thrombocytopenia, a case report

Background: Osteopetrosis is an inherited and rare bone disease with overall incidence of 1 case per 100,000-500,000 population, characterized by the failure of osteoclasts to resorb bone and impairment of bone modeling and remodeling, which results in skeletal fragility despite increased bone mass, and it may also cause hematopoietic insufficiency, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. There are 3 distinct clinical forms of the disease—infantile, intermediate, and adult onset. Infantile form is autosomal recessive and severe form of the disease with a poor prognosis, if untreated, it will result in death by the first decade of life due to severe anemia, bleeding, or infections. Bone marrow transplantation can markedly change the prognosis of the disease.Case report: : In this case report we present a 10 –day-old female neonate that was delivered by caesarian section from a Gravid 2, Para 1 ,Abort 1 mother without previous history of thrombocytopenia and autoimmune disease , in 39 weeks of gestation and birth weight of 2850 grams. Mother had a normal pregnancy, without any complication and parents had consanguinity. The newborn admitted to the neonatal ward because of diffuse petechiae and purpura on the skin, and periorbital ecchymosis (raccoon eyes), without any other abnormal significant signs and symptoms. In laboratory findings except for frequent low platelet count as low as 10000 -25000, there wasn’t any other abnormality. Other coagulative tests were within normal ranges. As the treatment of this patient, besides antibiotics for probable sepsis, platelet transfusion was considered, and due to lack of proper response to treatment, with suspicious of alloimmune thrombocytopenia, IVIgG was administered, in two courses. This persistent thrombocytopenia in spite of mentioned treatment led to further investigation and finally, osteopetrosis was diagnosed with the aid of brain CTS. The patient was discharged from the hospital with receiving frequent platelet transfusion after the neonatal periods and currently she is candidate for bone marrow transplantation. Conclusion: In persistent and unjustifiable neonatal thrombocytopenia, diagnosis of osteopetrosis should be considered.