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

Area of Science:

• Neuroscience
• Pediatric Neurology
• Developmental Neuroscience

Background:

• West syndrome is a severe infant epilepsy characterized by infantile spasms, hypsarrhythmia, and developmental delay.
• Holoprosencephaly is a congenital brain malformation resulting from incomplete forebrain division.
• Central Tegmental Tract (CTT) lesions are rarely reported in pediatric neurological disorders.

Observation:

• A 16-month-old female patient presented with West syndrome diagnosed at 3 months of age.
• Cerebral MRI revealed holoprosencephaly with incomplete cerebral fusion.
• Persistent CTT lesions were identified on T2-weighted MRI at 1 year of age.

Findings:

• The patient exhibited both holoprosencephaly and CTT lesions.
• CTT lesions, associated with the extrapyramidal tract, are infrequently observed via MRI in conditions like neonatal hypoxic-ischemic encephalopathy and inborn errors of metabolism.
• The presence of CTT lesions in this West syndrome case is a novel observation.

Implications:

• The findings suggest a potential link between CTT lesions and the development of West syndrome.
• Disturbances in midbrain fibers connecting to the basal ganglia may play a role in the etiology of West syndrome.
• Further research is warranted to elucidate the precise mechanisms connecting CTT abnormalities to West syndrome pathogenesis.