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Muscle-eye-brain disease (MEB)

P Santavuori1, H Somer, K Sainio

  • 1Children's Hospital, University of Helsinki, Finland.

Brain & Development
|January 1, 1989
PubMed
Summary

Muscle-Eye-Brain (MEB) disease is a rare congenital myopathy with autosomal recessive inheritance. Patients exhibit hypotonia, muscle weakness, severe vision impairment, and developmental delay, differentiating it from Fukuyama type congenital muscular dystrophy.

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Area of Science:

  • Neurology
  • Genetics
  • Ophthalmology

Background:

  • Muscle-Eye-Brain (MEB) disease is a rare congenital myopathy.
  • Autosomal recessive inheritance is suggested by pedigree data.

Purpose of the Study:

  • To describe the clinical features of MEB disease in 19 patients.
  • To differentiate MEB disease from Fukuyama type congenital muscular dystrophy.

Main Methods:

  • Clinical assessment of 19 patients.
  • Pedigree analysis.
  • Electromyography (EMG), creatine kinase (CK) levels, muscle biopsy, electroretinography (ERG), visual evoked potentials (VEPs), electroencephalography (EEG), and CT scans.

Main Results:

  • Patients presented with congenital hypotonia, muscle weakness, elevated CK, myopathic EMG, and muscle biopsy changes.

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  • Ophthalmological findings included severe visual failure, myopia, and uncontrolled eye movements.
  • High VEPs, unrecordable ERG, progressive EEG abnormalities, severe mental retardation, and psychomotor delay were observed.
  • Deterioration around age 5 with spasticity, joint contractures, ventricular dilatations, and low white matter density on CT scans.

    • Conclusions:

    • MEB disease is characterized by a distinct set of neurological, muscular, and ocular features.
    • Spasticity, high VEPs, and ocular manifestations help distinguish MEB from Fukuyama type congenital muscular dystrophy.