Gowda Vykuntaraju K, Vegda Hemadri, Shivappa Sanjay K, Benakappa Naveen
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
J Pediatr Neurosci. 2020 Jul-Sep;15(3):334-335. doi: 10.4103/jpn.JPN_107_20. Epub 2020 Nov 6.
Osteoporosis pseudoglioma syndrome is characterized by intellectual disability, osteoporosis of bones and eye abnormalities. We report, a 14-year-old female child presented with walking difficulty with frequent falls followed by deformity of left leg. On examination, bilateral micropthalmia, microcornea, corneal clouding, vitreo-retinal detachment, and atrophic irises. She had deformity of left lower limb, anterior bowing of both tibia, lax skin, hyperextensible joints. Skeletal survey showed severe osteoporosis with fracture of left femur and fish mouth vertebra. She had normal serum calcium, phosphorus, and alkaline phosphatase levels. Targeted next generation testing revealed homozygous pathogenic variant in exon 6 at c.1096G>A/p.V366 M and confirmed by Sanger sequencing. Early diagnosis and treatment are helpful in preventing further fractures and osteoporosis.
骨质疏松假性胶质瘤综合征的特征为智力残疾、骨骼骨质疏松和眼部异常。我们报告了一名14岁女童，她出现行走困难且频繁跌倒，随后左腿出现畸形。检查发现双侧小眼症、小角膜、角膜混浊、玻璃体视网膜脱离和萎缩性虹膜。她有左下肢畸形，双侧胫骨前凸，皮肤松弛，关节过度伸展。骨骼检查显示严重骨质疏松，左股骨骨折和鱼嘴椎骨。她的血清钙、磷和碱性磷酸酶水平正常。靶向二代检测显示外显子6中c.1096G>A/p.V366M处存在纯合致病变异，并通过桑格测序得到证实。早期诊断和治疗有助于预防进一步的骨折和骨质疏松。
