Teber Serap, Sezer Taner, Kafali Mehpare, Kendirli Tanil, Siklar Zeynep, Berberoglu Merih, Ocal Gonul, Deda Gulhis
Pediatric Neurology, Faculty of Medicine, University of Ankara, Ankara, Turkey.
Indian J Pediatr. 2008 Feb;75(2):186-8. doi: 10.1007/s12098-008-0029-2.
We report a 3-month-old male with infantile hypophosphatasia who later developed Pseudotumor cerebri. At the age of 3 months, he was referred to our hospital because of pneumonia and respiratory insufficiency. He had short extremities, and radiographs of the bones were consistent with lack of metaphyseal mineralization and bowed lower extremities. Vomiting and bulging fontanelle developed 3 months after admission, and CSF opening pressure was notably high at 430 mm/H2O. Hypophosphatasia is a very rare cause of pseudotumor cerebri. This report is the first case where PTC is associated with hypophosphatasia and responded well to corticosteroid therapy.
我们报告了一名3个月大患有婴儿型低磷酸酯酶症的男性，该患儿后来发展为假性脑瘤。3个月大时，他因肺炎和呼吸功能不全被转诊至我院。他四肢短小，骨骼X线片显示干骺端矿化不足且下肢弯曲。入院3个月后出现呕吐和囟门隆起，脑脊液开放压力显著升高，达430mm/H₂O。低磷酸酯酶症是假性脑瘤非常罕见的病因。本报告是首例假性脑瘤与低磷酸酯酶症相关且对皮质类固醇治疗反应良好的病例。
