Lo Tom Edward Ngo
Department of Medicine-Endocrinology, Philippine General Hospital, Manila, Philippines.
BMJ Case Rep. 2013 Jun 12;2013:bcr2013009873. doi: 10.1136/bcr-2013-009873.
Presented in this paper is a case of a 36-year-old Filipino man presenting with a chronic history of intermittent proximal muscle weakness and paralysis which was associated with failure to thrive, severe bony deformities, muscle wasting and multiple electrolyte abnormalities (hypokalaemia, hypocalcaemia, hypomagnesaemia). Severe skeletal deformities led to a pathological fracture of the femoral bone and restrictive chest wall expansion during inspiration necessitating admission and consult at our institution. Correction of multiple electrolyte abnormalities was the mainstay of treatment for this case and resulted into full reversal of paralytic symptoms but skeletal and osseous abnormalities persisted. This case highlights the insidious course and subtle signs of Fanconi's syndrome leading to disfiguring skeletal deformities and abnormalities if not diagnosed early. Early suspicion and eventual diagnosis might be the key for these patients to have normal productive life devoid of crippling complications.
本文介绍了一例36岁的菲律宾男子,他有间歇性近端肌无力和麻痹的慢性病史,伴有发育不良、严重骨畸形、肌肉萎缩和多种电解质异常(低钾血症、低钙血症、低镁血症)。严重的骨骼畸形导致股骨病理性骨折,吸气时胸壁扩张受限,因此需要入院并在我们机构进行会诊。纠正多种电解质异常是该病例治疗的主要方法,可使麻痹症状完全逆转,但骨骼和骨质异常仍然存在。该病例突出了范科尼综合征隐匿的病程和细微的体征,如果不及早诊断,会导致毁容性骨骼畸形和异常。早期怀疑并最终确诊可能是这些患者过上无致残并发症的正常生活的关键。