Dunphy Louise, Warfield Adrian, Williams Rhodri
Department of Surgery, Milton Keynes University Hospital, Milton Keynes, UK.
Department of Histopathology, Queen Elizabeth Hospital Birmingham, Birmingham, UK.
BMJ Case Rep. 2019 Mar 20;12(3):e224452. doi: 10.1136/bcr-2018-224452.
Malignant infantile osteopetrosis (MIOP), an autosomal-recessive disorder, is extremely rare, presenting early in life with extreme sclerosis of the skeleton and reduced activity of osteoclasts. It was first described by Albers Schonberg in 1904. Disease manifestations include compensatory extramedullary haematopoiesis at sites such as the liver and spleen, hepatosplenomegaly, anaemia and thrombocytopaenia. Neurological manifestations can also occur due to narrowing of osseous foramina resulting in visual impairment, hearing loss, facial palsy and hydrocephalus. In addition, growth retardation and recurrent infections requiring long-term antibiotic use are common. The incidence of MIOP is 1/2 000 000 and if untreated, then it has a fatal outcome, with the majority of cases occurring within the first 5 years of life. At present, the only potentially curative option is a haematopoietic stem cell transplant. We present a 21-year-old woman, diagnosed with malignant infantile osteopetrosis, due to a mutation in the T-cell immune regulator 1 gene when aged 6 weeks, presenting with chronic osteomyelitis of her left mandible. As malignant infantile osteopetrosis has a high mortality in infancy, we felt it prudent to report this rare case in a patient surviving to adulthood.
恶性婴儿骨硬化症（MIOP）是一种常染色体隐性疾病，极为罕见，在生命早期表现为骨骼极度硬化和破骨细胞活性降低。它于1904年由阿尔伯斯·舍恩伯格首次描述。疾病表现包括肝脏和脾脏等部位的代偿性髓外造血、肝脾肿大、贫血和血小板减少。由于骨孔狭窄导致视力障碍、听力丧失、面神经麻痹和脑积水，也可能出现神经学表现。此外，生长发育迟缓以及需要长期使用抗生素的反复感染很常见。MIOP的发病率为1/2000000，如果不进行治疗，会导致致命后果，大多数病例发生在生命的头5年。目前，唯一可能治愈的选择是造血干细胞移植。我们报告一名21岁女性，6周龄时因T细胞免疫调节因子1基因突变被诊断为恶性婴儿骨硬化症，现患有左下颌骨慢性骨髓炎。由于恶性婴儿骨硬化症在婴儿期死亡率很高，我们认为报告这例罕见的成年存活患者病例是审慎之举。
