J Korean Ophthalmol Soc.  2009 Feb;50(2):318-323. 10.3341/jkos.2009.50.2.318.

A Child With Muscle-eye-brain Disease

• Lee E
• Kim JH
• Hwang JM

• KMID: 2212071
• DOI: http://doi.org/10.3341/jkos.2009.50.2.318

Abstract

PURPOSE: To describe a child with muscle-eye-brain disease as the first case report in Korea.
CASE SUMMARY
A 35-month-old girl presented with esotropia and nystagmus since birth. She was born with a birth weight of 3.45 Kg at the gestational age of 39 weeks. She had a history of developmental delay and developmental dislocation of the hip. Her elder sister also had generalized weakness and mental retardation. The patient's creatinine kinase and lactate dehydrogenase serum levels were high. Cycloplegic refraction showed a significant myopic astigmatism in both eyes. She showed nystagmus and 20 prism diopters of esotropia in the primary position with the alternative prism cover test. Slit lamp examination revealed a mild posterior subcapsular cataract and lower lid epiblepharon in both eyes. Funduscopic examination showed diffuse retinal degeneration with remnant hyaloids membranes in both eyes. Both optic nerves were dysplastic with abnormal vascular branching pattern. Flash visual evoked potential was normal and standard electroretinography showed decreased amplitude in both eyes. Brain magnetic resonance imaging (MRI) revealed diffuse T2 high signal lesions of the cerebral white matter, diffuse pachygyria of the cerebral cortices, pontine hypoplasia, and multiple small cerebellar cysts.
CONCLUSIONS
When a child with developmental delay has ophthalmologic problems including severe myopia, cataract, strabismus and retinal degeneration, the systemic condition should be examined. In this case, in addition to the ophthalmologic findings, blood test and brain MRI were helpful for the diagnosis of muscle-eye-brain disease.

Keyword

Congenital muscular dystrophy; Muscle-eye-brain disease

MeSH Terms

Astigmatism
Birth Weight
Brain
Cataract
Cerebral Cortex
Child
Creatinine
Dislocations
Electroretinography
Esotropia
Evoked Potentials, Visual
Eye
Gestational Age
Hematologic Tests
Hip
Humans
Intellectual Disability
Korea
L-Lactate Dehydrogenase
Lissencephaly
Magnetic Resonance Imaging
Membranes
Myopia
Optic Nerve
Parturition
Phosphotransferases
Preschool Child
Retinal Degeneration
Siblings
Strabismus
Walker-Warburg Syndrome
Creatinine
L-Lactate Dehydrogenase
Phosphotransferases

Figure

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  Figure 1. Photographs showing esotropia and inferior oblique overaction in the left eye.

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  Figure 2. Fundus photograph showing diffuse retinal degeneration and optic disc dysplasia accompanied by abnormal vascular branching pattern.

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  Figure 3. Standard electroretinogram at 35 months of age showing generalized decreased function of retinal ganglion cells in both eyes (A=rod response; B= maximal combined response; C=oscillatory potentials; D=cone response; E=30 Hz flicker).

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  Figure 4. Flash visual evoked potential at 35 months of age showing normal to decreased latencies and normal amplitudes in both eyes (A=right eye; B=left eye).

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  Figure 5. Brain MRI. (A) T1-weighted axial image. Thick cortices (arrows) are found in the anterior portion of the temporal lobes bilaterally, suggesting diffuse pachygyria. The optic nerves (thin arrows) are atrophic. (B) T2-weighted axial images. (B-1), Multiple small cysts (arrows) are found in the cerebellar hemispheres bilaterally. (B-2), Multiple patch T2 high signal lesions (thick arrows) are shown bilaterally in the periventricular white matter of the frontal and parietal lobes. Mild pachygria (arrows) are also noted in the frontal cortices bilaterally. (C) T1-weighted sagittal image. The pons is severely hypoplastic (arrows) with absence of normal anterior bulge. The inferior cerebellar vermis is also hypoplastic (thin arrows).

Reference

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