Central tegmental tract lesion in a girl with holoprosencephaly presenting with West syndrome

We described a 16-month-old female patient who developed West syndrome at 3 months of age. MRI revealed a holoprosencephaly with incomplete fusion of the cerebrum, associated with central tegmental tract (CTT) lesions. At 1 year of age, the CTT lesion was still present on T2-weighted MRI. The CTT represents an important projection pathway of the extrapyramidal tract and the CTT lesions have rarely been reported using MRI in patients with neonatal hypoxic-ischemic encephalopathy and several inborn errors of metabolism. Although the exact mechanism remains obscure, we suggest that disturbances in midbrain fibers that connect to the basal ganglia, may have contributed to the etiology of West syndrome in this patient.