Waardenburg-Shah Syndrome: a rare case in an Indian child.
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.
All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India.
Rajesh
R
Pattebahadur
Department of Ophthalmology, AIIMS JODHPUR, Jodhpur, Rajasthan, India.
Shipra
S
Singhi
All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.
Prafulla Kumar
PK
Maharana
D002648:Child; D012048:Correction of Hearing Impairment; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000503:physiopathology / Q000534:rehabilitation; D006801:Humans; D007194:India; D007498:Iris / Q000473:pathology*; D008297:Male; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000209:etiology*; D013064:Speech Disorders / Q000534:rehabilitation*; D014792:Visual Acuity; D014849:Waardenburg Syndrome / Q000175:diagnosis* / Q000503:physiopathology / Q000534:rehabilitation; D044465:White People
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