Article Text
Summary
A 7-year-old male child presented with a history of discolouration of right eye since birth. On examination visual acuity was 6/6 on Snellen's chart in both eyes; anterior segment was within normal limits except for the brilliant blue discolouration of the inferior quadrant and superior quadrant of right iris and left eye iris, respectively. Both eyes had a clear lens and fundus findings were within normal limits. A detailed history from parents revealed that the child had difficulty in hearing and slurring of speech. In addition, the child had repeated episodes of constipation with bilious vomiting during infancy for which a diagnosis of fungal sepsis with Hirschsprung's disease was made and the child had to undergo a mid-sigmoid loop colostomy for that. A diagnosis of Waardenburg-Shah Syndrome was made and the child was referred for hearing and speech rehabilitation.
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Footnotes
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Contributors RP had a role in clinical examination of the case, collection of the data/consent and preparation of the first draft of the manuscript. SS had a role in preparing the manuscript and subsequent revisions of the manuscript. PKM had a role in planning, final editing of the manuscript and the figures and is responsible for the overall content as guarantor.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.