Ba I D, Ba A, Thiongane A, Ly/Ba A, Ba M, Fattah M, Faye P M, Cissé D F, Diouf F N
Service de pédiatrie, centre hospitalier national d'enfants Albert-Royer, Dakar, Sénégal.
Service de pédiatrie, centre hospitalier national d'enfants Albert-Royer, Dakar, Sénégal.
Arch Pediatr. 2016 May;23(5):514-8. doi: 10.1016/j.arcped.2016.02.006. Epub 2016 Mar 23.
Malignant infantile osteopetrosis is a rare genetic disease characterized by increased bone density due to osteoclastic dysfunction. We report on the case of a 3-month-old girl who was referred to our hospital by the ENT department for severe anemia in the context of bilateral choanal atresia. Clinical examination showed failure to thrive, anemia, respiratory distress, bilateral choanal atresia, and chest deformation. The abdomen was soft with large hepatosplenomegaly. We noted a lack of eye tracking, no optical-visual reflexes, and left nerve facial paralysis. The blood count showed normocytic normochromic anemia with severe thrombocytopenia. The infectious work-up and blood smears were negative. The skeleton X-ray showed diffuse bone densification of the skull, long bones, pelvis, vertebrae, and ribs. The facial bone CT confirmed membranous choanal atresia. The molecular biology search for the TCIRG1 gene mutation was not available. The patient had supportive treatment (transfusion, oral steroid, vitamin D, oxygen, nutrition). Bone marrow transplantation was indicated but not available. She died at 6 months in a context of severe anemia and bleeding. Malignant infantile osteopetrosis is rare and symptoms are nonspecific. Diagnosis should be considered in young infants presenting refractory anemia, particularly in the context of choanal atresia. Bone marrow transplantation remains the only curative treatment.
恶性婴儿骨硬化症是一种罕见的遗传性疾病，其特征是由于破骨细胞功能障碍导致骨密度增加。我们报告了一名3个月大女孩的病例，该女孩因双侧后鼻孔闭锁伴严重贫血被耳鼻喉科转诊至我院。临床检查显示发育不良、贫血、呼吸窘迫、双侧后鼻孔闭锁和胸部畸形。腹部柔软，伴有肝脾肿大。我们注意到缺乏眼球追踪、无光视觉反射和左侧面神经麻痹。血常规显示正细胞正色素性贫血伴严重血小板减少。感染筛查和血涂片均为阴性。骨骼X线显示颅骨、长骨、骨盆、椎骨和肋骨弥漫性骨质致密。面部骨CT证实为膜性后鼻孔闭锁。未进行TCIRG1基因突变的分子生物学检测。患者接受了支持性治疗（输血、口服类固醇、维生素D、吸氧、营养支持）。虽已建议进行骨髓移植，但无法进行。她在6个月时死于严重贫血和出血。恶性婴儿骨硬化症罕见，症状无特异性。对于出现难治性贫血的幼儿，尤其是在后鼻孔闭锁的情况下，应考虑进行诊断。骨髓移植仍然是唯一的治愈性治疗方法。
