Improved visualization of the posterior fossa structures has led to an increased recognition of cerebellar malformations, including the Dandy-Walker malformation, Joubert syndrome, rhombencephalosynapsis, tectocerebellar dysrhaphia, and so forth. New anomalies continue to be discovered, highlighting the fact that cerebellar anomalies are poorly understood and have largely been ignored in the literature. We present a structural anomaly of the cerebellum, which we believe has not been previously reported.
A 16-month-old girl presented to the pediatric outpatient department with some delayed developmental milestones. She was full-term with a normal vaginal delivery and no history suggestive of perinatal asphyxia. The motor milestones were delayed, and the child could not stand. The other milestones, including language and socialization, were normal. Examination revealed a bony hard swelling in the occipital region, which, according to the mother, was noticed soon after birth. The occipitofrontal circumference was 52 cm, and the anterior fontanelle was open. There was generalized hypotonia, and the deep tendon reflexes were depressed. Mild truncal ataxia was observed, but there was no nystagmus. Read more »
*This blog post was originally published at AJNR Blog*