title: Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state.
abstract: We report a case of nemaline myopathy with KLHL40 mutation, presenting as congenital totally locked-in state. At birth, a male patient developed hydrops fetalis, which was diagnosed based on the generalized edema and pleural effusion and could perform no significant spontaneous movements. His eyes were open, without blinking, and the eyeballs were locked in the midposition. He could not express his intentions by vocalization or moving his trunk, extremities, facial muscles, mouth, eyelids, or eyeballs in response to ambient events or personal interactions. Electrophysiological tests and neuroimaging revealed no evidence of visual or auditory impairment that might indicate a lack of sensory perception, and no evidence of impaired consciousness or intellectual disorder(s) that might prevent him from recognizing ambient events or expressing his intentions. He subsequently died at 4 years of age. Our case highlights the fact that severe congenital neuromuscular disorders can present as congenital totally locked-in state, and that special attention should be provided to these patients.
authors.affiliation: Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan; Department of Neonatology and Pediatrics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan. Electronic address: kkawase@med.nagoya-cu.ac.jp.
authors.forename: Koya
authors.initials: K
authors.lastname: Kawase
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.affiliation: Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
authors.forename: Mari
authors.initials: M
authors.lastname: Sugimoto
authors.affiliation: Department of Neonatology and Pediatrics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan.
authors.forename: Takao
authors.initials: T
authors.lastname: Togawa
authors.affiliation: Department of Neonatology and Pediatrics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan.
authors.forename: Tokio
authors.initials: T
authors.lastname: Sugiura
authors.affiliation: Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
authors.forename: Masanori
authors.initials: M
authors.lastname: Kouwaki
authors.affiliation: Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan.
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Kibe
authors.affiliation: Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
authors.forename: Norihisa
authors.initials: N
authors.lastname: Koyama
authors.affiliation: Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan; Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Yokochi
mesh_terms: D001921:Brain / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D017696:Myopathies, Nemaline / Q000150:complications / Q000235:genetics*; D011782:Quadriplegia / Q000150:complications / Q000151:congenital / Q000235:genetics* / Q000473:pathology
chemical_list: C000595273:KLHL40 protein, human; D009124:Muscle Proteins
keywords: Congenital totally locked-in state; Hydrops fetalis; KLHL40; Nemaline myopathy