Radiological Changes in Patients with Spina Bifida

Background: Spina bifida (SB) can be associated with brain malformations. Single brain malformations have been described in case reports in small cohorts; a systematic survey is missing so far.

Methods: At Charité, 265 patients with SB, 76% of them with SB aperta, are looked after. In 189 patients, the radiological phenotype (s/cMRT) was retrospectively described using standardized data sheets and correlated with the patients’ cognition in 71 children by using KABC. Cerebellum, corpus callosum and brainstem abnormalities were recorded. For describing the cerebellar tentorium and clivus position, different parameters, such as the angles between tentorium, clivus and cranial base, and the kink within the tentorium were measured, standard values were determined.

Results: All patients with SB aperta and 6% with SB occulta had radiological brain abnormalities. Within SB aperta 69% of patients showed corpus callosum abnormalities, 50% hypoplastic pons, 59% abnormal tectal plate, 20% mesencephalon hypoplasia, and 10% a medullary kinking. The tentorium-kink angle was significantly higher in SB aperta patients compared with controls and could be correlated with the level of cerebellar tonsils as well as cognitive abilities. 44% of SB aperta patients performed below average in the KABC while all SB occulta patients were at least average.

Conclusions: SB can be associated with a range of brain malformations, in particular SB aperta is always associated with brain abnormalities. A detailed preparation of a cognitive profile (e.g., using HAWIK-IV) is likely to provide further insights into the correlation of brain malformations and cognitive performance.