Malignant infantile ostéopetrosis: A case report in national hospital center of Nouakchott.

Abstract

Infantile malignant osteopetrosis (IMO) is a rare hereditary disease of bone resorption characterized by generalized skeletal densi ication due to abnormal osteoclast function or differentiation. Observation We report the case of a male infant aged 8 months, born to a mother aged 33 years, with a notion of parental consanguinity 2nd degree; with a history of several hospitalizations including the 1st at neonatal age for refusal to suckle, vomiting incoercible in a context of fever; a brother died at the age of 6 months in the same table. The examination on admission had revealed a slightly altered general state, a staturoweight and psychomotor retardation, an anemic syndrome, craniofacial dysmorphia, a macro‑cranium, bilateral nystagmus, gingival hypertrophy, a costal rosary, a stage III splenomegaly of Hackett. Paraclinical exploration revealed normochromic anemia, regenerative normocytic anemia, thrombocytopenia: 21030 cells/mm3. A negative direct coombs test, LDH elevated to 1298 (NV: 120 ‑ 300 UI/L), Haptoglobine: 0.08 [NV; 0.32‑2 g/l]. Toxoplasma, rubella and Epstein bar virus serology were negative, anti‑parvovirus Ac was positive at 10 (threshold: 1.5), renal function was normal. Skeletal radiography revealed diffuse osteocondensation of the skeleton, skull bones, orbital frames, long bones with a fringed appearance; the metaphysis of the long bones is enlarged, deformed into a mass with a bony appearance in the bone characteristic of osteopetrosis. The echo‑abdominal ultrasound had shown a homogeneous splenomegaly (SPM). , the child bene ited from supportive treatment. Death occurred at the age of 9 months in a severe sepsis with cardiorespiratory decompensation. Conclusion: GMO is a rare and little known disease in our context like many metabolic diseases, our only means of diagnosis remains the clinical and especially the morphological aspect, the skeletal X‑ray remains indispensable and the typical aspect is the generalized densi ication of the skeleton with the aspect of bone in bone