Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis

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• 作者：Tetsuya Okazaki^a ; ^{t-okazaki@med.tottori-u.ac.jp} ; Yoshiaki Saito^a ; ^b ; Riyo Ueda^a ; ^b ; Takeya Awashima^b ; Yoko Nishimura^a ; Isao Yuasa^c ; Yuki Shinohara^d ; Kaori Adachi^e ; Masayuki Sasaki^b ; Eiji Nanba^e ; Yoshihiro Maegaki^a
• 关键词：Hypochondroplasia ; FGFR3 ; Epileptic apnea ; Temporal lobe epilepsy ; Temporal lobe dysgenesis
• 刊名：Brain and Development
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：39
• 期：1
• 页码：67-71
• 全文大小：2115 K
• 卷排序：39

文摘

Hypochondroplasia (HCH) is a skeletal dysplasia, characterized by short stature and macrocephaly. Clinical symptoms and radiological and histopathological features of HCH are similar, but milder than those seen in achondroplasia. Particularly, HCH patients with Asn540Lys mutation in the FGFR3 gene are reported to have medial temporal lobe dysgenesis and epilepsy.We report a 3-year-old girl who developed recurrent epileptic apnea, which started immediately after birth. The apneic seizures were refractory to antiepileptic medications; ictal electroencephalography showed rhythmic activity originating from the left or right temporal areas and rarely from the right frontal area. Macrocephaly was noted since birth. Neuroimaging revealed bilateral dysgenesis and hypometabolism of the medial temporal structures as well as perfusion changes in the left lateral temporofrontal areas during the ictal period. Clonazepam was initiated and acetazolamide dosage was increased at 6 months, resulting in complete seizure control after 8 months of age. Genetic analysis identified an Asn540Lys (c.1620 C > A) mutation in the FGFR3 gene. Characteristic bone findings on the lumbar spine, iliac bone, and femur were retrospectively confirmed on X-rays during infancy.This was the first report that delineated the epilepsy phenotype in FGFR3-related bilateral medial temporal lobe dysgenesis; such findings would lead to an early diagnosis and better epilepsy management.