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Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state
- Source :
- Brain and Development. 37:887-890
- Publication Year :
- 2015
- Publisher :
- Elsevier BV, 2015.
-
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.
- Subjects :
- Male
Pediatrics
medicine.medical_specialty
Spontaneous movements
Pleural effusion
Muscle Proteins
Myopathies, Nemaline
Quadriplegia
Fatal Outcome
Nemaline myopathy
Developmental Neuroscience
Neuroimaging
Hydrops fetalis
medicine
Humans
Amyotrophic lateral sclerosis
Muscle, Skeletal
business.industry
Infant, Newborn
Brain
General Medicine
medicine.disease
Trunk
Surgery
Facial muscles
medicine.anatomical_structure
Mutation
Pediatrics, Perinatology and Child Health
Neurology (clinical)
business
Subjects
Details
- ISSN :
- 03877604
- Volume :
- 37
- Database :
- OpenAIRE
- Journal :
- Brain and Development
- Accession number :
- edsair.doi.dedup.....bd011f779f9f1215fc8837df10d5b84d