Literature DB >> 1451226

Multicore myopathy in a patient with anhidrotic ectodermal dysplasia.

C P Gordon1, S Litz.   

Abstract

We report a patient with multicore myopathy, a rare myopathy not previously reported in the anaesthetic literature. It is characterised by a myopathy of proximal muscles which tends to follow a benign course but may be associated with a severe form of cardiomyopathy. The myopathy is related to central core disease so these patients should be considered to have a potential for developing malignant hyperthermia. Complicating this case was an associated anhidrotic type of ectodermal dysplasia resulting in the absence of sweating, febrile episodes, recurrent pulmonary infections, conical and missing teeth, scaly skin and fine, sparse hair. The patient had a scoliosis repair which was uneventful but died three weeks later following a major pulmonary aspiration while on the ward. The cause of the aspiration is thought to have been unsuspected laryngeal incompetence associated with ectodermal dysplasia, the myopathy involving his bulbar muscles and analgesic medication.

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Year:  1992        PMID: 1451226     DOI: 10.1007/BF03008347

Source DB:  PubMed          Journal:  Can J Anaesth        ISSN: 0832-610X            Impact factor:   5.063


  17 in total

1.  Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.

Authors:  A Clarke; D I Phillips; R Brown; P S Harper
Journal:  Arch Dis Child       Date:  1987-10       Impact factor: 3.791

2.  Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers.

Authors:  A G Engel; M R Gomez; R V Groover
Journal:  Mayo Clin Proc       Date:  1971-10       Impact factor: 7.616

3.  Multicore myopathy: not always a benign entity.

Authors:  A Shuaib; J M Martin; L B Mitchell; A K Brownell
Journal:  Can J Neurol Sci       Date:  1988-02       Impact factor: 2.104

4.  Malignant hyperthermia and central core disease in a child with congenital dislocating hips.

Authors:  G D Eng; B S Epstein; W K Engel; D W McKay; R McKay
Journal:  Arch Neurol       Date:  1978-04

5.  Dysphagia in hypohidrotic ectodermal dysplasia. A case report.

Authors:  P C Potter; M D Bowie
Journal:  S Afr Med J       Date:  1984-08-11

6.  Type distribution of muscle fibres and their ultrastructure related to intracellular elemental composition as revealed by energy dispersive X-ray microanalysis. A study of multicore myopathy.

Authors:  L Edström; W G Mair; R Wroblewski; M Hovmöller; G Malm
Journal:  J Neurol Sci       Date:  1986-11       Impact factor: 3.181

7.  Central core disease and malignant hyperthermia syndrome.

Authors:  J P Frank; Y Harati; I J Butler; T E Nelson; C I Scott
Journal:  Ann Neurol       Date:  1980-01       Impact factor: 10.422

8.  Unusual paraspinal muscle lesions in ankylosing spondylitis.

Authors:  B A Kakulas; I Morrison; E T Owen; R Kitridou
Journal:  Clin Exp Neurol       Date:  1987

9.  Rapp-Hodgkin ectodermal dysplasia.

Authors:  H Santos; M J Cordeiro; I Faro Viana; I Cordeiro; J Colarinha; M L Rodrigues
Journal:  Acta Paediatr Scand       Date:  1990-02

10.  Hypohidrotic ectodermal dysplasia: argument against an autosomal recessive form clinically indistinguishable from X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome)

Authors:  V P Sybert
Journal:  Pediatr Dermatol       Date:  1989-06       Impact factor: 1.588

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  2 in total

1.  Oral surgery with nasotracheal intubation in a patient with ectodermal dysplasia.

Authors:  D Nanegrungsunk; B G Jericho
Journal:  Anaesth Rep       Date:  2020-07-23

Review 2.  Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Authors:  Heinz Jungbluth; Susan Treves; Francesco Zorzato; Anna Sarkozy; Julien Ochala; Caroline Sewry; Rahul Phadke; Mathias Gautel; Francesco Muntoni
Journal:  Nat Rev Neurol       Date:  2018-02-02       Impact factor: 42.937

  2 in total

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