Scheie syndrome presenting as myopathy

A. Verrips; B. C.M. Van Engelen; H. Ter Laak; P. Wesseling; J. De Jong; F. J.M. Gabreëls

doi:10.1055/s-2001-13873

Scheie syndrome presenting as myopathy

A. Verrips
, B. C.M. Van Engelen
, H. Ter Laak
, P. Wesseling
, J. De Jong
, F. J.M. Gabreëls

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

Abstract

We investigated two brothers with Scheie syndrome whose only complaint was exercise intolerance. In the quadriceps muscle biopsy of both patients, between the normal muscle fibres an increased number of markedly swollen periodic acid-Schiff-positive fibroblasts were seen. Ultrastructurally, these cells showed an accumulation of enlarged lysosomes, partly filled with electro-dense material. We hypothesize that the accumulation of pathological fibroblasts may interfere with intramuscular force transmission resulting in exercise intolerance.

Original language	English
Pages (from-to)	93-96
Number of pages	4
Journal	Neuropediatrics
Volume	32
Issue number	2
DOIs	https://doi.org/10.1055/s-2001-13873
Publication status	Published - Apr 2001
Externally published	Yes

Keywords

Exercise intolerance
Muscle extracellular matrix
Scheie syndrome

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10.1055/s-2001-13873

Cite this

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title = "Scheie syndrome presenting as myopathy",

abstract = "We investigated two brothers with Scheie syndrome whose only complaint was exercise intolerance. In the quadriceps muscle biopsy of both patients, between the normal muscle fibres an increased number of markedly swollen periodic acid-Schiff-positive fibroblasts were seen. Ultrastructurally, these cells showed an accumulation of enlarged lysosomes, partly filled with electro-dense material. We hypothesize that the accumulation of pathological fibroblasts may interfere with intramuscular force transmission resulting in exercise intolerance.",

keywords = "Exercise intolerance, Muscle extracellular matrix, Scheie syndrome",

author = "A. Verrips and \{Van Engelen\}, \{B. C.M.\} and \{Ter Laak\}, H. and P. Wesseling and \{De Jong\}, J. and Gabre{\"e}ls, \{F. J.M.\}",

year = "2001",

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volume = "32",

pages = "93--96",

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AU - Verrips, A.

AU - Van Engelen, B. C.M.

AU - Ter Laak, H.

AU - Wesseling, P.

AU - De Jong, J.

AU - Gabreëls, F. J.M.

PY - 2001/4

Y1 - 2001/4

N2 - We investigated two brothers with Scheie syndrome whose only complaint was exercise intolerance. In the quadriceps muscle biopsy of both patients, between the normal muscle fibres an increased number of markedly swollen periodic acid-Schiff-positive fibroblasts were seen. Ultrastructurally, these cells showed an accumulation of enlarged lysosomes, partly filled with electro-dense material. We hypothesize that the accumulation of pathological fibroblasts may interfere with intramuscular force transmission resulting in exercise intolerance.

AB - We investigated two brothers with Scheie syndrome whose only complaint was exercise intolerance. In the quadriceps muscle biopsy of both patients, between the normal muscle fibres an increased number of markedly swollen periodic acid-Schiff-positive fibroblasts were seen. Ultrastructurally, these cells showed an accumulation of enlarged lysosomes, partly filled with electro-dense material. We hypothesize that the accumulation of pathological fibroblasts may interfere with intramuscular force transmission resulting in exercise intolerance.

KW - Exercise intolerance

KW - Muscle extracellular matrix

KW - Scheie syndrome

UR - https://www.scopus.com/pages/publications/0035020271

U2 - 10.1055/s-2001-13873

DO - 10.1055/s-2001-13873

M3 - Article

C2 - 11414650

AN - SCOPUS:0035020271

SN - 0174-304X

VL - 32

SP - 93

EP - 96

JO - Neuropediatrics

JF - Neuropediatrics

IS - 2

ER -

Scheie syndrome presenting as myopathy

Abstract

Keywords

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