Abstract
Waardenburg syndrome (WS) is a rare genetic disorder. It is caused by multiple mutations affecting the melanocytes, leading to a multitude of skin, hair, and eye symptoms. It is an autosomal dominant disease with four subtypes, each presenting with varying degrees of sensorineural hearing loss along with a constellation of other symptoms. Hirschsprung disease is unique to Waardenburg-Shah syndrome subtype 4 and is not associated with any other subtype. We present a case of this subtype 4 that presented with a bilateral sensorineural hearing loss, mutism, delayed milestones, white forelock, Hirschsprung disease, and bilateral blue homochromatic irises, a finding which is not typical for this subtype. This is the first case of WS with homochromatic irises and the fourth case to be reported from Pakistan.
Highlights
The history of the disease dates back to 1947 when a geneticist named Petrus J
We present a case of this subtype 4 that presented with a bilateral sensorineural hearing loss, mutism, delayed milestones, white forelock, Hirschsprung disease, and bilateral blue homochromatic irises, a finding which is not typical for this subtype
We report a case of a young child with Waardenburg syndrome (WS) who presented with the chief complaints of Poliosis, Hirschsprung’s disease, and bilateral homochromatic irises
Summary
The history of the disease dates back to 1947 when a geneticist named Petrus J. After observing the same presentation in a few other people, he published a research paper in 1951, describing the features of the disease, which later came to be known as Waardenburg syndrome (WS). It is an autosomal dominant disease with an incidence of one in 40,000 [2]. We report a case of a young child with WS who presented with the chief complaints of Poliosis, Hirschsprung’s disease, and bilateral homochromatic irises. The resulting product was subsequently sequenced, employing standard methods on an ABI PRISM 377 DNA sequencer This patient was found to have a novel truncating mutation of the SOX10 gene, on 22q13.
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