Kyphoscoliosis associated with congenital neuromuscular disease with uniform type 1 fibers

Imagama, Shiro; Kawakami, Noriaki; Tsuji, Taichi; Ohara, Takahiro; Ishiguro, Naoki

doi:10.1007/s00586-011-2128-4

Cited by 3 publications

(2 citation statements)

References 28 publications

(30 reference statements)

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“…Muscle biopsy findings are characterized by small type 1 fibers with no evidence of cores, rods, or central nuclei . MHS should be considered a possibility in patients with RYR1 variant‐related CFTD .…”

Section: Core Myopathies: General Descriptionmentioning

confidence: 99%

Core myopathies and malignant hyperthermia susceptibility: a review

Brislin

Theroux

2013

Pediatric Anesthesia

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The core myopathies are a subset of myopathies that present in infancy with hypotonia and muscle weakness. They were formerly considered a rare type of congenital myopathy but are now recognized as being more prevalent. Due to their genetic linkage to mutations in the ryanodine receptor gene (RYR1), core myopathies (in particular, central core disease) carry a high risk of malignant hyperthermia susceptibility. In this review article, we describe the phenotypical, genetic, and histopathological characteristics of core myopathies and further describe the currently understood nature of their risk of malignant hyperthermia. We also review the level of suspicion a clinician should exhibit with a child who has a possible core myopathy or other congenital myopathy presenting for an anesthetic prior to a definitive genetic analysis. For this review article, we performed literature searches using the key words anesthesiology, core myopathies, pediatric neurology, malignant hyperthermia, genetics, ryanodine receptor, and molecular biology. We also relied on literature accumulated by the two authors, who served as hotline consultants for the Malignant Hyperthermia Hotline of the Malignant Hyperthermia Association of the United States (MHAUS) for the past 12 years.

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Section: Core Myopathies: General Descriptionmentioning

confidence: 99%

Core myopathies and malignant hyperthermia susceptibility: a review

Brislin

Theroux

2013

Pediatric Anesthesia

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“…The bulge on the back is the striking feature of patient of kyphosis. The condition is usually of such a slight degree that it does not affect the patient [3].There are reports of kyphoscoliosis in patients with Goldenhar syndrome, Klippel-Trenaunay syndrome, Cohen syndrome, and neurofibromatosis [4][5][6][7]. The Goldenhar syndrome can be called as OCULO-AURICULO-VERTEBRAL DYSPLASIA, it's an embryological defect of the derivatives of 1 st and 2 nd pharyngeal arches.…”

Section: Introductionmentioning

confidence: 99%

Hunchback with “S” Shape Spine: Cadaveric Case series

Jayagandhi¹,

Verma²,

S³

et al. 2022

IJAR

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Introduction: Kyphosis is a sharp posterior angulation due to localized collapse or wedging of one or more vertebrae and scoliosis is the lateral curvature of the spine. These may occur due to a congenital defect, fracture, and sometimes pathological or spinal tuberculosis. Materials and Methods: During routine cadaver dissection, four cases of kyphoscoliosis were identified. In the first case, a protrusion on the posterior surface of the trunk of the cadaver at L1 level was observed in a 60-year-old male. The lungs were collapsed and adherent with the pleura and thoracic wall. The posterior wall of the stomach was adherent to the pancreas and a depression was noted on the anterior surface of abdominal aorta. The T12 and L1 vertebrae were fused, and the spine was deviated to the left side. The anterior aspect of the body of L1 vertebrae was marginally eroded. The second case of kyphoscoliosis was from 80-year-old female cadaver. The descending and abdominal aorta had an abnormal course along the vertebral column, third and fourth cases were observed with slight protrusion and scoliosis but not much changes in the vertebral column. Results: The cause of the deformity was confirmed by pathological examination of the tissues showed inter vertebral disc degeneration with calcification and ossification and osteopenia. The underlying etiology can be tuberculosis, injuries, or infections. Conclusion: Severe kyphoscoliosis can affect wide range of systems in the body. It will affect not only the respiratory system also pressure on great vessels as a consequence of bony deformity. KEY WORDS: Kyphosis, Cadaver Dissection, Kyphoscoliosis, Deformity, Calcification, Ossification.

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Difficulty Looking Down in Patients with Muscular Dystrophy after Scoliosis Correction: A Preliminary Report

Hong

Chang

et al. 2023

J Korean Soc Spine Surg

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Kyphoscoliosis associated with congenital neuromuscular disease with uniform type 1 fibers

Cited by 3 publications

References 28 publications

Core myopathies and malignant hyperthermia susceptibility: a review

Core myopathies and malignant hyperthermia susceptibility: a review

Hunchback with “S” Shape Spine: Cadaveric Case series

Difficulty Looking Down in Patients with Muscular Dystrophy after Scoliosis Correction: A Preliminary Report

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