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An 8-year-old male child, born out of consanguineous marriage presented with progressive gait instability with a predominant sway to his right on an attempt to walk for the last 5 years. He also experiences recurrent sinopulmonary and soft tissue infections from the same duration and has recently developed a burning sensation of both feet. On examination, he had dysarthria, with florid bulbar conjunctival telangiectasias (figure 1A,B), oculomotor apraxia and horizontal coarse gaze evoked nystagmus on both eyes and right sided predominant cerebellar signs. Brain …
Contributors SG, UC and AC contributed to conception, initial drafting of manuscript, critical revision of content and final approval of manuscript. SG, PS, HV and SD contributed to patient management, conception, critical revision of content and final approval of manuscript. All authors are in agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; internally peer reviewed.
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