HNRNPU の新規フレームシフト変異を有する患者で観察された，二相性発作と後期拡散低下を伴う急性脳症と片麻痺および難治性てんかんのエピソード．

An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU.

• Shino Shimada
• Hirokazu Oguni
• Yui Otani
• Aiko Nishikawa
• Susumu Ito
• Kaoru Eto
• Tomoyuki Nakazawa
• Keiko Yamamoto-Shimojima
• Jun-Ichi Takanashi
• Satoru Nagata
• Toshiyuki Yamamoto

抄録

HNRNPU遺伝子を含む1q44領域のマイクロ欠損は、乳児期の痙攣や片麻痺・片麻痺・てんかん症候群と関連している。最近の研究では、ヘテロ接合型のHNRNPU遺伝子変異が早期発症のてんかんや重度の知的障害をもたらすことが明らかになってきた。HNRNPU の de novo フレームシフト変異が 5 歳の男児で同定されたが，この男児は発達遅滞で，ステレオタイプの手の動きや無呼吸や過呼吸のエピソードを伴う呼吸異常を伴う Rett に似た特徴を有していた．また，二相性発作と後期拡散低下を伴う急性脳症を呈し，片麻痺と難治性てんかんを呈した．HNRNPUの機能喪失またはハプロ不全と関連した，特異的で可変性のある臨床的特徴がある．

Microdeletions in the 1q44 region encompassing the HNRNPU gene have been associated with infantile spasms and hemiconvulsion-hemiplegia-epilepsy syndrome. Recent studies have revealed that heterozygous HNRNPU variants resulted in early onset epilepsy and severe intellectual disability. A de novo frameshift mutation in HNRNPU was identified in a 5-year-old boy with developmental delay associated with Rett-like features including stereotypic hand movements and respiratory abnormalities with episode of apnea and hyperpnea followed by falling. He also showed an episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy. Unique and variable clinical features are related to loss-of-function or haploinsufficiency of HNRNPU.

Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.