Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disease.
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Clinical presentation
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horizontal gaze palsy
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abnormal and often absent horizontal gaze
horizontal gaze requires the action of ipsilateral abducent nerve and contralateral oculomotor nerve and mediated by the abducens nucleus
in this condition, there is congenital absence of the abducens nucleus results in abnormal horizontal gaze
vertical gaze is normal
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progressive kyphoscoliosis
Pathology
Genetics
It is caused by mutation of ROBO3 gene on chromosome 11, which is inherited in an autosomal recessive pattern.
Radiographic features
MRI brain reveals specific patterns of brainstem hypoplasia, whilst spinal imaging reveals scoliosis.
MRI
Features on MRI brain include:
loss of facial colliculus due to absent abducens nucleus 3
split pons sign: deep midline cleft in the pons extending from the fourth ventricular floor 3
butterfly morphology and hypoplasia of the medulla oblongata 3
tenting of the fourth ventricle 3
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