Microcephaly with Simplified Gyral Pattern

Alternative Names

  • MSG
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

603802

Mode of Inheritance

Autosomal recessive

Description

Microcephaly with Simplified Gyral Pattern (MSG) is a congenital malformation of the brain due to neuronal and glial proliferatioin. The condition is defined by severe microcephaly, accompanied with reduced number of and shallow appearance of gyri. In addition, the cortex is of normal or reduced thickness, and has a normal architecture. Five different types of MSG have been observed, differing in their severity. Type 1 is associated with a normal neonatal course, mild spasticity, and absence of seizures. The most severe form is Type 5, which is characterized by arthrogyposis, severe spasticity, and neonatal seizures. All forms are associated with moderate to severe mental retardation. The more severe types present with feeding difficulties, abolished reflexes, and hypotonia. Some researchers believe that MSG and Microcephaly Vera represent a continuous phenotype.

Brain scan using MRI is the best method to diagnose MSG. Differential diagnosis includes Lissencephaly. However, the cortex is thickened in Lissencephaly and its architecture is abnormal, both of which features can be used to differentiate between the two conditions. It is possible to diagnose the condition in the prenatal condition by fetal imaging. However, confirmation of this diagnosis can only be done at least 30 weeks of gestation. No treatment is available for MSG. Prognosis is usually poor for Types 2 to 5. Physiotherapy, speech therapy, and occupational therapy needs to be provided to the patients. Anticonvulsants may be used to control the seizures.

Molecular Genetics

Familial cases of MSG have been seen to follow an autosomal recessive pattern of inheritance. No genetic locus has been found to be associated with this condition. Familial studies have, however, ruled out any linkage to the locus responsible for Lissencephaly and Primary Microcephaly.

Epidemiology in the Arab World

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Other Reports

Oman

Rajab et al. (2007) were the first to describe a new condition of microcephaly with simplified gyral pattern in a family in which four affected children born to a consanguineous Omani couple.  There was no known family history of the condition. Molecular analysis ruled out the locus responsible for Amish microcephaly in this family.

United Arab Emirates

Sztriha et al. (2004) described 13 Arab patients with microcephaly associated with abnormal gyral patterns. In at least six patients, the microcephaly was found in association with a simplified gyral pattern with relatively well preserved posterior fossa. One other patient showed microcephaly with simplified gyral pattern and severe cerebellar hypoplasia.

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