Al Kaissi Ali, Petje Gert, De Brauwer Veerla, Grill Franz, Klaushofer Klaus
Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA, Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria.
Cases J. 2009 Feb 9;2(1):133. doi: 10.1186/1757-1626-2-133.
Infantile cortical hyperostosis is characterised by hyperirritability, acute inflammation of soft tissue, and profound alterations of the shape and structure of the underlying bones, particularly the long bones, mandible, clavicles, or ribs.
We report on a clinical case of a 3-months-old baby girl of non-consanguineous parents. Multiple long bone swellings were the motive of referral to our department for clinical evaluation. Radiographic documentation was consistent with infantile cortical hyperostosis (Caffey disease). Interestingly, skull base sclerosis associated with excessive thickening was the most unusual malformation. We report a baby with mixed endochondral and intramembraneous ossification defects.
Bone dysplasias, mucopolysaccharidoses, and metabolic diseases are a group of disorders that cause abnormal growth, density, and skull base shape. Skull base sclerosis/thickening is a well-known malformation in connection with other forms of sclerosing bone disorders such as dysosteosclerosis, frontometaphyseal dysplasia, and progressive diaphyseal dysplasia with skull base involvement. It is noteworthy that our present patient had an unusually sclerosed/thickened skull base. Narrowing of skull foramina due to sclerosis of skull base is likely to result in cranial nerves deficits. In this baby, the pathology has been judged to be the result of child abuse and it is not, in this case considerable harm to his parents, and the doctor-parent relationship was the outcome.
婴儿骨皮质增生症的特征为易激惹、软组织急性炎症以及其下方骨骼,特别是长骨、下颌骨、锁骨或肋骨的形状和结构发生显著改变。
我们报告一例非近亲结婚父母所生的3个月大女婴的临床病例。多处长骨肿胀是转诊至我科进行临床评估的原因。影像学检查结果与婴儿骨皮质增生症(卡菲病)相符。有趣的是,伴有过度增厚的颅底硬化是最不寻常的畸形表现。我们报告了一名同时存在软骨内成骨和膜内成骨缺陷的婴儿。
骨发育异常、黏多糖贮积症和代谢性疾病是一组导致生长、密度及颅底形状异常的疾病。颅底硬化/增厚是与其他形式的硬化性骨病如骨硬化症、额骨干骺端发育不良以及累及颅底的进行性骨干发育不良相关的一种已知畸形。值得注意的是,我们目前的患者颅底硬化/增厚异常。颅底硬化导致的颅孔狭窄可能会导致颅神经功能缺损。在这个婴儿中,病理情况被判定为虐待儿童的结果,在这种情况下对其父母并没有造成太大伤害,而医患关系就是这样产生的。