X-Linked Centronuclear Myopathy

Hueng-Chuen Fan; Chuen-Ming Lee; Horng-Jyh Harn; Shin-Nan Cheng; Yeong-Seng Yuh

doi:10.1055/s-2003-40603

American Journal of Perinatology, Table of Contents

Am J Perinatol 2003; 20(4): 173-180
DOI: 10.1055/s-2003-40603

X-Linked Centronuclear Myopathy

Hueng-Chuen Fan¹ , Chuen-Ming Lee¹ , Horng-Jyh Harn² , Shin-Nan Cheng¹ , Yeong-Seng Yuh¹

¹Department of Pediatrics, Tri-Service General Hospital and National Defense Medical Center, Taipei, Taiwan, Republic of China
²Department of Pathology, Tri-Service General Hospital and National Defense Medical Center, Taipei, Taiwan, Republic of China

Abstract

ABSTRACT

We report the cases of two male preterm newborns with X-linked centronuclear myopathy (CNM). This is the most severe type of CNM. Each of them presented with generalized hypotonia, weakness, difficulty in swallowing, and respiratory distress at birth. Physical examination of both newborns revealed long thin face, high-arched palate, mild bilateral ptosis, frog-leg posture, and absence of deep tendon reflex. Diagnosis of the disease was made according to fetal history, family history, muscle histopathology, electron microscopy, and genetic analysis. Subdural hemorrhage of brain and subcapsular hematoma of the liver were found at autopsy of Case 1. The results of molecular analysis of Case 2 and his family favored the diagnosis of X-linked CNM. Molecular studies can be easily performed with only minute amount of DNA of patients, and may help the clinician to predict which patients may be at the risk for medical complications.

KEYWORDS

X-linked centronuclear myopathy - histopathology - molecular analysis

Full Text

References

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