Muscle eye brain disease

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Classification according to ICD-10
Q04.3 Other reduction deformities of the brain
ICD-10 online (WHO version 2019)

The muscle-eye-brain disease from English Muscle-Eye-Brain-Disease (also called, in German), short MEB Disease or MEBD or even after the first description in 1977 by the Finnish Neuropädiaterin Pirkko Santavuori Santavuori's disease is a congenital muscular dystrophy - a rare, congenital disease of the muscles. It is closely related to Walker-Warburg syndrome , but is generally milder. The inheritance is autosomal - recessive .

Cause and spread

There is generally no reliable information on the frequency of congenital muscular dystrophies. Estimates assume one child among 20,000 newborns with clear regional differences in the frequency of certain forms. Muscle-eye-brain disease is more common in Finland.

The cause of the disease are mutations in a gene, which leads to glycosylation disorders . A large number of genes can be affected, which can also lead to other manifestations such as Walker-Warburg syndrome. It is known that mutations can lead to MEBD for the following genes:

Symptoms and diagnosis of the disease

Muscular hypotension and malformations of the eyes such as microphthalmia , coloboma , buphthalmus , anterior chamber disorders, glaucoma or retinal dysplasia , which can lead to blindness, and abnormalities in the face occur immediately after birth . For an initial diagnosis, a sonography of the brain, an inspection of the eyes and a determination of the creatine kinase in the blood serum , which is increased in muscle-eye-brain disease , are therefore carried out. Further symptoms are lissencephaly , hypoplasia of the optic nerve , cerebellar hypoplasia , hydrocephalus (less pronounced than with WWS), psychomotor developmental retardation , seizures, eating and thriving disorders, and restricted mouth opening due to joint contracture in the temporomandibular joint.

The further diagnosis consists of an imaging examination of the brain, such as an MRI or CT scan, and an ophthalmological examination. If an encephalocele is found , the finding speaks in favor of Walker-Warburg syndrome and against MEBD. Pronounced hydrocephalus is more likely to be found in Walker-Warburg syndrome, but is not an exclusion criterion.

course

In addition to the muscular component of the disease, the nearsightedness of the affected children progresses very quickly. The entire development of children is delayed. From the age of five at the latest, motor skills deteriorate rapidly and spasticity and contractures develop . Life expectancy is greatly reduced: Depending on the course, most of those affected die between the ages of six and sixteen.

Individual evidence

  1. ↑ a b Muscle-Eye-Brain Disease. In: Orphanet (Rare Disease Database).
  2. ↑ P. Santavuori, J. Leisti, S. Kruus: Muscle, eye and brain disease. A new syndrome (abstract). In: Neuropaediatrics . tape 8 , 1977, pp. 533 .
  3. ↑ a b c Muscle-Eye-Brain Disease , Westfälische Wilhelms-Universität Münster: Medical Faculty Münster, 2014.
  4. ^ A b Victor C. Baum, Jennifer E. O'Flaherty: Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood . 2nd Edition. Lippincott Williams & Wilkins, 2007, ISBN 978-0-7817-7938-8 , pp. 270 .
  5. ↑ a b c Stephan Zierz: muscle diseases . 4th edition. Thieme, Stuttgart / New York 2014, ISBN 978-3-13-159814-1 , pp. 151 .
  6. ↑ Congenital Myopathies , German Society for Muscle Diseases.
  7. ↑ "Muscular Dystrophy-Dystroglycanopathy (Congenital with brain and eye anomalies), type A, 1".  In: Online Mendelian Inheritance in Man . (English)
  8. ^ Muscle-Eye-Brain-Disease