Pediatric cerebellar malformations: magnetic resonance diagnostic merits and correlation with neurodevelopmental outcome

Abstract

Background: In spite of having many classifications for pediatric cerebellar malformations (PCMs), no broadly accepted classification is recommended. Associated neurodevelopmental outcomes in children with PCMs remain poorly defined. Neuroimaging is compulsory for the diagnosis of cerebellar malformation and their associated abnormalities. This article emphasizes on the clinical and radiological traits of PCMs. It proposes a radiological classification and a diagnostic approach and assesses whether specific neuroimaging features in patients with PCM correlate with their neurodevelopmental outcomes. Results: Fifty-eight pediatric patients were classified as follows: The majority of about 51 cases (88%) showed cerebellar hypoplasia and the remaining 7 cases (12%) showed cerebellar dysplasia. Twenty-six patients (45%) remained undiagnosed, while 32 patients (55%) were having a final diagnosis (24% Dandy-Walker malformation (DWM) (n = 14), 7% isolated vermian hypoplasia (n = 4), 7% congenital disorder of glycosylation (CDG) (n = 4), 5% congenital muscular dystrophy (n = 3), 5% congenital cytomegalovirus (CMV) infection (n = 30), 3% rhombencephalosynapsis (n = 2), 2% Lhermitte-Duclos syndrome (n = 1), and 2% DWM with Joubert syndrome (n = 1)). Overall, for the neurodevelopmental outcome, the majority of patients 90% (52/58) had a global developmental delay (GDD) which is a delay in two or more developmental domains. Both motor and language delay represented about 72% (37/58), intellectual disability was present in 59% (34/58), epilepsy in 53% (31/58), ataxic gait in 57% (33/58), attention deficit hyperactivity disorder (ADHD) in 19% (11/58), autism spectrum disorder (ASD) in 17% (10/58), nystagmus and tremors in 15% (9/58), and behavioral changes in 7% (6/58). Most of the children with cerebellar hypoplasia, about 93%, had GDD. Also, patients with PCH associated with a severe GDD, 75% had a language delay, 50% had intellectual and motor delay, and about 25% had epilepsy. However, we observed mild GDD in half of the vermian hypoplasia cases and half of them had a mild fine motor delay. Conclusions: Magnetic resonance imaging (MRI) of the pediatric brain provides key information to categorize and classify cerebellar malformations. A neurodevelopmental deficit is highly associated with different types of PCMs. Severe GDD was associated with cerebellar and brain stem involvement. However, children with vermis mal-development were likely to have mild GDD. Familiarity with their diagnostic criteria is mandatory for correct diagnosis and prognosis for patients.