Abstract
An 11-month-old girl born to nonconsanguineous parents presented with abnormal eye movements and frequent upper respiratory infections. The immediate postnatal period had been marked by respiratory distress that subsided with supportive measures. When seen she had global developmental delay, nystagmus, and limb hypotonia. Other systems were normal. Laboratory investigations and chest radiograph were normal. Cranial MRI revealed absence of normal decussation of the superior cerebellar peduncles along with its perpendicular extension to the brainstem. The interpeduncular cistern was deeper with decreased anteroposterior midbrain diameter—
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