Prevalence and CT-Scan Presentations of Brain Malformations in Children at a University-Affiliated Mother and Child Hospital (Cameroon)

Background: Brain malformations (BMs) are congenital abnormalities of the shape or structure of the brain, with corpus callosum agenesis known as the most frequent. Diagnosis of most BMs can be prenatal with ultrasound and fetal magnetic resonance imaging (MRI); post-natal diagnosis is based on transfontanellar ultrasound, CT-scan, and head MRI which is the imaging gold standard technique. MRI has been recently introduced and the CT-scan was previously the reference technique for the diagnosis of BMs in our context. Almost no publication has been made in sub-Saharan Africa on the clinical and CT scan characteristics of Brain malformations in children. Objective: The aim of this study was, in the absence of MRI, to describe the clinical and CT-scan presentations of brain malformations in children at the Yaounde Gynaeco-Obstetric and Pediatric Hospital (YGOPH). Patients and method: This was a cross-sectional descriptive study conducted from February to May 2016 at the YGOPH, including all children of 15-year-old and less with BM diagnosed on CT-scan at YGOPH between April 2006 and March 2016. The studied variables were clinical (age at diagnosis, sex, clinical manifestations) and CT findings (type of cerebral malformation). The data was analyzed using the SPSS 20.0 software with the estimation of hospital prevalence of BMs, frequencies and associations. The chi-square test was used to seek for an association between variables. The threshold of significance was p < 0.05. Results: The prevalence of BMs was 0.52%, with 29 cases of BMs identified out of 5590 patients followed up at the pediatric neurology outpatient unit over a period of 10 years. The mean age at diagnosis was 37.2 months (3.1 years) and the most represented age groups were 0 - 1 year (37.9%) and 1 - 5 years (37.9%). The sex ratio was 0.81 (55.2% girls). The clinical presentation was represented by neurological signs (93.1%) with convulsions (65.5%) and psychomotor retardation (58.8%) associated with skin lesions (34.5%) and/or facial dysmorphic features (27.6%). BM was suspected on antenatal ultrasound in 14.3% of cases (4/28). Abnormalities of cortical development accounted for 65.5% of BM followed by abnormalities of brain separation (31%). Tuberous sclerosis complex was the most common BM (31%) followed by agenesis of the corpus callosum (27.6%). The presence of dysmorphic facial features was associated (p = 0.007) with disorders of brain separation (DBS) while the presence of cutaneous lesions was associated (p = 0.013) with anomalies of the cortical development (ACD) especially tuberous sclerosis complex. Conclusion: BMs are infrequent, dominated by tuberous sclerosis complex and agenesis of the corpus callosum. They are mainly revealed by convulsions and psychomotor retardation. Efforts are needed to improve antenatal diagnosis and facilitate access to cerebral MRI.