Presentation
One-year-old patient with delayed motor development, hypotonia, ataxia and also doesn't present tonic neck reflex.
Patient Data
In the posterior fossa, aplasia of the cerebellar vermis is observed, associated with elongation of the superior cerebellar peduncles, giving the midbrain a "molar tooth sign" appearance, as well as the fourth ventricle in the form of "bat wings".
Case Discussion
In the images presented, we observed malformation of the brainstem and cerebellum, as well as the "molar tooth sign" which is considered pathognomonic by some authors, which would explain the clinical picture of the patient (ataxia, hypotonia and delayed motor development), which gives us a high diagnostic suspicion of this syndrome, since this syndrome is mainly diagnosed by clinical and imaging studies. We do not have additional extension studies to rule out renal or hepatic involvement.
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