Early Diagnosis of Osteopetrosis Type 3 with Neonatal onset with Life-Threatening Complications: A case Report with Review of the Literature

Osteopetrosis Type 3 with Renal Tubular Acidosis (OPTB3) is a rare inherited autosomal recessive disorder. It is manifested clinically with osteopetrosis, renal tubular acidosis (RTA), cerebral calcification, and growth retardation. Neonatal onset with life-threatening complications warrants a thorough clinical evaluation with an assessment of specialized tests such as x-ray. Here, we discuss a rare case of carbonic anhydrase II deficiency syndrome, presenting with poor feeding and thrombocytopenia, in which the diagnosis was initially missed in the first hospitalization. Upon second admission, re-exanimation of the CXR was suggestive of marble bone disease. Further tests confirmed OPTB3. Following conservative management and family counseling, the patient was discharged in a good general condition. In conclusion, this highlight the need of early identification of the disease, as early appropriate treatment is necessary to improve the patient outcome and prevent complications.