Arshad Mehmood, Javeria Raza Alvi, Ahmad Bilal, Sameen Qureshi, Shaila Ali, Tipu Sultan
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引用次数: 0
摘要
Poretti-Boltshauser 综合征是一种罕见的遗传性疾病，由于 LAMA1 基因突变导致脑部畸形并伴有眼部症状。我们报告了一例五岁女孩的病例，她患有高度近视，语言和运动发育迟缓，但神经系统检查正常。脑成像结果与波雷蒂-博尔特豪泽综合征（Poretti-Boltshauser Syndrome with cellerebar dysplasia and cyst，CDC）一致。然而，在我们的病例中并未发现小脑共济失调和视网膜病变。
Child with developmental delay and pathological myopia: Poretti–Boltshauser syndrome
Poretti–Boltshauser syndrome is rare genetic disorder of brain malformation with ocular findings due to mutation in LAMA1 gene. We report a case of five years old girl who presented with high myopia, delayed language and motor development with otherwise normal neurological examination. Brain imaging findings were consistent of Poretti–Boltshauser syndrome with cerebellar dysplasia and cyst (CDC). However, cerebellar ataxia and retinopathy were not found in our index case.
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