Ono Yoichi, Saito Yoshiaki, Maegaki Yoshihiro, Tohyama Jun, Montassir Hesham, Fujii Shinya, Sugai Kenji, Ohno Kousaku
Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan.
Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan.
Brain Dev. 2016 Mar;38(3):302-9. doi: 10.1016/j.braindev.2015.09.005. Epub 2015 Sep 26.
To delineate the clinical and neuroimaging characteristics of localized megalencephaly involving the right frontal lobe.
Data from three patients aged 14-16 years at the last follow-up were retrospectively reviewed.
All the patients were normal on neurological examination with no signs of hemiparesis. Enlargement of the right frontal lobe with increased volume of subcortical and deep white matter, as well as thickening of the ipsilateral genu of the corpus callosum was common. The onset of epilepsy was 4-7 years of age, with seizure types of massive myoclonus in two and generalized tonic-clonic in two, which could be eventually controlled by antiepileptics. Interictal electroencephalography showed frontal alpha-like activity in one, and abundant spike-wave complexes resulting in diffuse continuous spike-wave activity during sleep in two patients even after suppression of clinical seizures. Psychomotor development appeared unaffected or slightly delayed before the onset of epilepsy, but became mildly disturbed during follow-up period of 7-11 years.
Certain patients with right frontal megalencephaly can present with a milder epileptic and intellectual phenotype among those with localized megalencephaly and holohemispheric hemimegalencephaly, whose characteristic as epileptic encephalopathy was assumed from this study.
描述累及右侧额叶的局限性巨脑回的临床和神经影像学特征。
回顾性分析3例末次随访时年龄为14 - 16岁患者的数据。
所有患者神经系统检查均正常，无偏瘫体征。常见右侧额叶增大，皮质下和深部白质体积增加，以及同侧胼胝体膝部增厚。癫痫发作起始于4 - 7岁，其中2例为大量肌阵挛发作，2例为全身强直阵挛发作，最终可通过抗癫痫药物控制。发作间期脑电图检查，1例显示额叶α样活动，2例即使在临床发作得到控制后，睡眠期间仍有大量棘波复合波，导致弥漫性持续性棘慢波活动。癫痫发作前精神运动发育未受影响或略有延迟，但在7 - 11年的随访期间出现轻度障碍。
某些右侧额叶巨脑回患者在局限性巨脑回和全脑半球半巨脑回患者中表现出较轻的癫痫和智力表型，本研究认为其特征为癫痫性脑病。
