Malignant infantile osteopetrosis
A 2 months 15 days old hindu, female baby born to non-consanguineous couple presented with fever, cough, hurried respiration and melaena since 4 days. There was prominent frontal bossing, depressed nasal bridge and wide opened anterior fontenellae 4 cm × 5 cm and posterior 0.5 cm × 0.5 cm. She was febrile (100°F), RR 60/min, PR 120/min and blood pressure of 90/64mm of Hg. She was pale, otherwise skin and mucous membrane were normal and her head circumference 38 cm (>10th centile), weight 4 kg (<5th centile), and length 48 cm (<5th centile). Abdominal examination revealed firm hepatomegaly and 7 cm spleenomegaly. Respiratory system revealed crepitations and ronchi. Her detailed ophthalmic examination including fundus was normal. Other systems examination was unremarkable. Investigations revealed: Haemoglobin 9 g/dl, TC 39, 400/mm3 with differential count of N-32%, L-42%, M-0%, E-05%, B-0%, Promyelocyte 06%, Myelocyte 7%, Metamyelocyte 05%, ESR 25 mm in 1st hr and platelet count 66,000/mm3. Peripheral Smear revealed erythrocytosis showing moderate degree of anisopoikilocytosis, majority of Red Blood Cells are normocytic and normochromic. Nucleated RBC's seen (12/100WBC's), along with good number of polychromoatophilic RBC's. Tear drop cells also seen. Leucocytes are increased with shift to left, platelets are reduced. Her RBC's indices are: MCH 24.6 pg, MCV-78.2, MCHC-31.5%, RDW-19.4 and reticulocyte count-6.5%. Impression: Leukoerythroblastic blood film. Her bloodsugar, renal functions and LFT's were normal. Her serum calcium 8.0 mg/dl, phosphorus 2.9 mg/dl, Alkalinephosphatase (AP) 3077 U/L, and Lactate dehydrogenase (LDH) 1840U/L. Quantitative Buffy Coat smear (QBC) for malarial parasite and HIV status were negative. Her cranial and abdominal ultrasound was normal. X-ray showed increased density in all the bones (bone in bone appearance and) [Figures and ]. She was diagnosed as a case of MIOP with anemia and bronchopneumonia. She was treated with antibiotics, blood transfusion, calcium, and vitamin D.