Abstract：
BACKGROUND:Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recognized. PATIENTS:Patient 1 is a 15-year-old girl with mild proximal, four-limb weakness from age 5, presenting with a progressive scoliosis starting at age 10. Patient 2 is an 18-year-old girl with progressively worsening muscle hypotrophy and mild proximal, four-limb weakness. She developed a rapidly progressive scoliosis from age 11 and needed surgical treatment at age 14 years. Patient 3 is an 11-year-old boy with moderate proximal limb weakness and progressive neck flexor weakness, first noticed at age 2. Muscle biopsies revealed type 1 fiber predominance (Patients 1 and 2) or abnormal type 1 fiber uniformity (Patient 3). Different RYR1 variants were identified in all patients. In Patients 1 and 3, these changes were validated as being pathogenic. CONCLUSIONS:These patients illustrate early-onset, progressive myopathies with predominant axial involvement. Histopathologic findings were abnormal but not specific for a diagnosis, particularly central core myopathy. Genetic testing helped broaden the range of phenotypes included in the RYR1-related myopathies. Our patients reinforce the need to recognize the broad histopathologic variability of RYR1-related myopathies and sometimes lack of pathognomonic findings that may reduce the diagnostic threshold of this disease. We suggest that the predominance of type 1 fibers and involvement of axial muscles may be an important element to consider the RYR1 gene as candidate.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Rocha J,Taipa R,Melo Pires M,Oliveira J,Santos R,Santos Mdoi
10.1016/j.pediatrneurol.2014.04.024subject
Has Abstractpub_date
2014-08-01 00:00:00pages
275-8issue
2eissn
0887-8994issn
1873-5150pii
S0887-8994(14)00266-5journal_volume
51pub_type
杂志文章abstract：:We assess the prevalence of vision problems in a cohort of low birth weight infants at age 2 years and the relationship of these problems to neonatal brain injury. Data on prenatal and neonatal history and brain injury status were prospectively collected on 721 children weighing 500-2,000 gm at birth enrolled in a mul...
journal_title：Pediatric neurology
pub_type： 临床试验,杂志文章,多中心研究
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更新日期：1996-05-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(02)00456-3
更新日期：2002-11-01 00:00:00
abstract：:A 9-year-old boy with severe growth retardation, mild mental retardation, and hypospadia had a high serum CK level without muscle weakness and atrophy. Muscle biopsy revealed a moderate variation in fiber size with a few necrotic and scattered regenerating fibers. Although muscle membranes were clearly stained by immu...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(93)90094-s
更新日期：1993-05-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
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更新日期：1995-01-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
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abstract：:Guillain-Barré syndrome and acute myelitis represent common and very rare etiologies of acute limb weakness in children, respectively. Typically, demyelination is most common, limited to either the central or peripheral nervous system. Concurrent acute myelitis and Guillain-Barré syndrome are seldom reported. We retro...
journal_title：Pediatric neurology
pub_type： 杂志文章
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journal_title：Pediatric neurology
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pub_type： 杂志文章,评审
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abstract：:The most effective method for the screening and monitoring of optic pathway gliomas in children with neurofibromatosis type 1 remains a dilemma. Children less than 6 years of age are the group at highest risk for the development of optic pathway gliomas. Although an annual ophthalmologic examination currently is recom...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(00)00230-7
更新日期：2001-01-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(86)90048-2
更新日期：1986-07-01 00:00:00
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journal_title：Pediatric neurology
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更新日期：2019-06-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(01)00376-9
更新日期：2002-04-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(98)00151-9
更新日期：1999-03-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
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更新日期：1992-11-01 00:00:00
abstract：:Mitochondrial diseases comprise a group of complex and heterogeneous genetic disorders. Variable clinical features present a major challenge in pediatric diagnoses. From January 1984-June 2009, 69 patients were diagnosed with either syndromic mitochondrial diseases or nonsyndromic mitochondrial diseases. Clinical mani...
journal_title：Pediatric neurology
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更新日期：2010-09-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
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journal_title：Pediatric neurology
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journal_title：Pediatric neurology
pub_type： 杂志文章
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更新日期：2010-11-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(93)90009-2
更新日期：1993-01-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(97)80670-4
更新日期：1997-07-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2013.08.016
更新日期：2014-01-01 00:00:00
abstract：:A 2-year-old boy with acute optic neuritis, confirmed by gadolinium-DTPA enhancement of the optic nerve using frequency-selective fat-saturation pulse magnetic resonance imaging (Fat-Sat MRI), is reported. Because it is difficult in very young children to sufficiently evaluate visual acuity, visual field, and retroocu...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(95)00254-5
更新日期：1996-01-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.05.014
更新日期：2014-09-01 00:00:00
abstract：:Epilepsy is a serious chronic brain disorder of childhood. We performed a cross-sectional prevalence study, determined the prevalence of childhood epilepsy, and identified the significance of certain risk factors for epilepsy among 1625 primary-school students aged 6-14 years, living in the center of Kars province. A ...
journal_title：Pediatric neurology
pub_type： 杂志文章
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更新日期：2012-07-01 00:00:00
abstract：:Niemann-Pick type C disease is an autosomal-recessive, inherited neurovisceral lipid storage disorder. This disease results from either protein NPC1 or HE1 deficiency, which leads to cholesterol metabolism disturbance and is characterized by early hepatosplenomegaly and progressive ataxia, dystonia, cataplexy, dysarth...
journal_title：Pediatric neurology
pub_type： 杂志文章
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journal_title：Pediatric neurology
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