Horizontal gaze palsy with progressive scoliosis (HGPPS)

Case contributed by Dr Marcos Gil Alberto da Veiga

Presentation

A 5-year-old girl presents for corrective surgery due to progressive scoliosis, noted by age 3. 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
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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Case information

rID: 48427
Case created: 6th Oct 2016
Last edited: 7th Oct 2016
Inclusion in quiz mode: Included

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