Horizontal gaze paralysis with progressive scoliosis

Case contributed by Dr Bradley Jordan Scher

Presentation

An otherwise healthy male was treated for congenital onset thoracolumbar scoliosis and found unable to horizontally track with either eye. Neurologic exams confirmed an inability to abduct or adduct the eyes, while vertical eye movement was preserved. The remainder of the neurological exams, review of systems, and family history were unremarkable.

Patient Data

Age: 3 years
Gender: Male

Sagittal T1 postcontrast: Abnormal brainstem contour with pontomedullary hypoplasia.

Axial T2: Deep pontine cleft with tenting of the fourth ventricle and flattened facial colliculi (arrows). “Butterfly” configuration of the medulla. 

Significant thoracolumbar scoliosis.

(A) Sagittal-T1 post contrast: Abnormal brainstem contour with pontomedullary hypoplasia.

(B) Axial-T2: Deep pontine cleft with tenting of the fourth ventricle and flattened facial colliculi (arrows).

(C) Axial-T2: “Butterfly” configuration of the medulla.

(D) Coronal-T2: Significant thoracolumbar scoliosis.

Case Discussion

Initial brain MRI at 2.5 years of age revealed decreased pontomedullary volume, a deep pontine cleft, and butterfly-like medulla configuration (figures A-C). The constellation of imaging and clinical findings were consistent with horizontal gaze paralysis with progressive scoliosis, a rare autosomal recessively inherited disorder of the ROBO3 gene linked to abnormal CNS and axonal development. The etiology of the progressive scoliotic curvature in these cases remains uncertain. 

Mobius syndrome was initially on the differential diagnosis given the flattened facial colliculi on MRI but later ruled out based on normal facial muscle tone and movement. 

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Case information

rID: 72905
Published: 29th Dec 2019
Last edited: 1st Jan 2020
Inclusion in quiz mode: Included
Institution: Lurie Children's Hospital