AI Article Synopsis
- A 7-week-old infant exhibited persistent noisy breathing and aspiration issues, with normal neurological exams and brain scans.
- The case is complicated by the older brother's history of pneumonectomy due to recurrent aspirations, leading to motor problems and eye movement issues.
- Genetic analysis identified a novel mutation in the MYH2 gene shared by both brothers, suggesting a link between MYH2 deficiency and recurrent aspiration in infants, highlighting the need for this mutation to be considered in similar cases.
Article Abstract
A 7-week-old infant presented with persistent noisy breathing and aspirations during swallowing. Neurological examination and brain MRI were normal. His 12-year-old brother underwent pneumonectomy at the age of 10 years due to recurrent aspirations leading to severe lung damage. The older brother developed subsequently ophthalmoplegia and nystagmus along with mild weakness of the neck flexors and proximal muscles. Exome analysis revealed homozygosity for a novel truncating mutation p.G800fs27* in the Myosin Heavy Chain 2 (MYH2) gene in both brothers, while parents and an unaffected sibling were heterozygous. A muscle biopsy from the older brother showed absence of type-2 muscle fibers and predominance of type-1 fibers. The aspirations causing pneumonia likely result from weakness of the laryngeal muscles, normally rich in type-2 fibers. The findings expand the phenotypic spectrum of MYH2 deficiency. MYH2 mutations should be included in the differential diagnosis of infants presenting with recurrent aspirations.
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| http://dx.doi.org/10.1016/j.nmd.2017.06.015 | DOI Listing |
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