Malignant infantile osteopetrosis with cleft lip—a case report

Abstract

A 3-month-old female baby brought for cleft lip repair was referred to the Department of Pediatrics. On physical examination, her weight was 4.2 kg, head circumference 39 cm, and length 53 cm; she revealed pallor, cleft lip, hepatomegaly (span 8 cm), and grade II splenomegaly (palpable 6 cm below left costal margin from midclavicular line). With the detailed history, we found that this girl was born by a full-term normal delivery to a consanguineously married couple. Her birth weight was 2.7 kg, and she was the third in birth order. The first sibling, a male child, showed failure to thrive, pallor, macrocephaly, global developmental delay, hepatosplenomegaly, recurrent history of lower respiratory tract infections, and expired at 3 years of age with sepsis. The second sibling, a female child, is thriving well. Laboratory investigations showed anemia (Hb, 8.1 gm/dL), thrombocytopenia (80,000) with normal WBC count (8,500/mm 3). Peripheral blood smear showed microcytic, hypochromic red blood corpuscles with immature white blood cells (WBCs; myleocytes, metamyleocytes, and bandforms) and normoblasts (3-4/100 WBC). Bone marrow aspiration revealed erythroid hyperplasia. Hemoglobin electrophoresis was normal. Inborn error of metabolism workup was normal. Malignant infantile osteopetrosis (MIOP), a rare congenital disorder of bone resorption, is caused by the failure of osteoclasts to reabsorb immature bones. We report a 3-month-old female child with cleft lip who was referred to the pediatric department for consultation. She was born to consanguineous parents, and the elder sibling expired at the age of 3 years owing to recurrent respiratory tract infections and hydrocephalus. On examination, we found pallor and hepatosplenomegaly. On follow-up, we came to know that she exhibited delayed developmental history and bilateral optic atrophy. Skeletal radiographs showed dense bones with "bone-in-bone" appearance. The overall clinical features and radiological findings of these patients were sufficient to arrive at the diagnosis of MIOP.