Santra Gouranga, Patra Shinjan, Chakraborty Partha Pratim
Associate Professor.
Post-graduate Trainee.
J Assoc Physicians India. 2016 Dec;64(12):92-94.
Osteopetrosis is a rare disorder of osteoclastic bone resorption leading to hyperostosis. Albers-Schonberg disease, an autosomal dominant variant of osteopetrosis occurs in young adults and has a benign course. A 17 year old female presented with generalized weakness and pallor for last two months. She had insidious onset and gradually progressive loss of vision and hearing for last two years. Plain x-ray of skull revealed increased radio-opacity of skull bones specially in the base, severe under-pneumatization of frontal and sphenoidal sinuses. Maxillary and ethmoid sinuses were also opaque and under-pneumatised. Bone scintigraphy with technetium-99m methylene diphosphonate showed diffusely increased uptake in whole skull. Bone marrow biopsy revealed a reactive marrow with areas of fibrosis without any evidence of granuloma or malignancy. The case had cranial entrapment neuropathies and severe anaemia due to osteopetrosis. High level of awareness is needed to diagnose the case properly and to help the patient to cope with the disabling features of the disease.
骨硬化症是一种罕见的破骨细胞性骨吸收障碍疾病，可导致骨质增生。阿尔伯斯-尚伯格病是骨硬化症的常染色体显性变异型，发生于年轻人，病程良性。一名17岁女性在过去两个月出现全身无力和面色苍白。在过去两年中，她起病隐匿，视力和听力逐渐丧失。头颅平片显示颅骨特别是颅底的放射密度增加，额窦和蝶窦严重气化不足。上颌窦和筛窦也不透明且气化不足。用锝-99m亚甲基二膦酸盐进行骨闪烁显像显示全颅弥漫性摄取增加。骨髓活检显示反应性骨髓伴有纤维化区域，无任何肉芽肿或恶性肿瘤的证据。该病例因骨硬化症出现颅神经受压性神经病和严重贫血。需要高度警惕以正确诊断该病例，并帮助患者应对该疾病的致残特征。
