Familial case of encephalocele with autosomal dominant inheritance

Brain herniation is a congenital combined malformation of the brain and skull. Cause of this pathology is a defect in the closure of the anterior end of the neural tube during embryogenesis. The uniqueness of this clinical review is based on the fact that we have considered case of occipital encephalocele in a child, the family anamnesis of which suggests an autosomal dominant inheritance of the defect.

MATERIALS AND METHODS: We have analyzed results of the clinical and anamnestic examination and microsurgical treatment of encephalocele in a patient at the pediatric neurosurgery department № 7 of the Almazov National Medical Research Centre. A genealogical method was used to identify the nature of inheritance of the defect. Analyze of polymorphisms in the folate cycle genes (MTHFR, MTR, MTRR) was performed.

RESULTS: The patient and his relatives have a mild form of the disease with only the meninges present in the hernial sac. The patient underwent successful microsurgical correction of the anomaly. Analysis of the pedigree made it possible to identify 7 more relatives on the maternal side with similar formations in the occipital and frontal region, without severe consequences for life and health, with a probability of inheritance of about 50 %, which indicates an autosomal dominant type of inheritance. We also have identified heterozygous carriage of the MTHFR: 677 C>T (Ala222Val) and MTRR: 66 A>G (lle22Met) polymorphisms, likely predisposing to the formation of a mild phenotype of the disease

CONCLUSION: Serious defects in the formation and closure of the neural tube are in most cases incompatible with life. Such pathology is most often associated with habitual miscarriage or gross malformations such as cranial and spinal hernias. These developmental anomalies have a neurological component complementary to their severity, depending on the degree of involvement of brain structures.

The clinical case we have examined is atypical — the child and his relatives have only external manifestations of the anomaly without obvious focal and cerebral symptoms and a decrease in the quality of life.

Clinical and genealogical data allow us to assess this situation as a genetic disease with autosomal dominant inheritance.

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