Horizontal gaze palsy with progressive scoliosis (HGPPS)

Case contributed by Marcos Gil Alberto da Veiga
Diagnosis almost certain

Presentation

Presented for corrective surgery due to progressive scoliosis, initially noted at age 3 years. A full-term birth after an uneventful pregnancy is reported. Child has non-consanguineous parents. At admission a complete absence of the horizontal eye movements was identified, with preserved convergence and vertical eye movements.

Patient Data

Age: 5 years
Gender: Female

PA radiograph shows thoracolumbar scoliosis.

Midline sagittal T1-weighted image shows pons and medulla oblongata with a reduced volume.

Axial T2-weighted images through the pons and medulla demonstrating butterfly‐like appearance of the medulla, accompanied by a midline cleft, consistent with the absence of corticospinal tract fibers decussation. The floor of the fourth ventricle is tent shaped with missing facial colliculi. 

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