Masood Sadia, Jalil Palwasha, Ahmed Jan Naila, Sadique Muhammad
Dermatology, Aga Khan University Hospital, Karachi, PAK.
Dermatology, Bolan Medical College, Quetta, PAK.
Cureus. 2020 Oct 10;12(10):e10889. doi: 10.7759/cureus.10889.
Waardenburg syndrome (WS) is an interesting inherited audio-pigmentary disorder. The syndrome shows no gender, racial, or ethnic predilection. This unique disorder is characterized by pigmentary abnormalities, deafness, and neural crest-derived tissue defect. WS can be recognized by some specific clinical features that appear after birth; not all affected individuals possess all the clinical features. It has four clinical sub types based on the mutant gene and characteristic morphology. These morphological features are broad nasal root, white forelock, the difference in the colour of eyes, congenital leukoderma, and sensorineural deafness. We report an interesting case of WS in twin boys who fulfill the criteria of WS-II. Our cases have four major criteria (white forelock, heterochromia, sensorineural hearing loss, first degree relative with WS), and 1 minor criterion to establish the diagnosis of WS-II. Most clinical features of WS-II except sensorineural deafness are benign and do not need any intervention but severe deafness can be a serious problem. The current report is unique and is a rare case of WS in twin infants. We present this case for its rarity, relative paucity of literature, and also to emphasize the clinical presentation of this extremely rare disease in twins.
瓦登伯革氏综合征（WS）是一种有趣的遗传性听觉色素沉着障碍。该综合征无性别、种族或民族倾向。这种独特的疾病以色素沉着异常、耳聋和神经嵴衍生组织缺陷为特征。WS可通过出生后出现的一些特定临床特征来识别；并非所有受影响个体都具有所有临床特征。根据突变基因和特征形态，它有四种临床亚型。这些形态学特征包括宽鼻根、白色额发、眼睛颜色差异、先天性白斑和感音神经性耳聋。我们报告了一例有趣的双胞胎男孩WS病例，其符合WS-II的标准。我们的病例有四个主要标准（白色额发、异色症、感音神经性听力损失、患有WS的一级亲属）和1个次要标准来确诊WS-II。WS-II的大多数临床特征除感音神经性耳聋外都是良性的，不需要任何干预，但严重耳聋可能是一个严重问题。本报告很独特，是双胞胎婴儿中罕见的WS病例。我们呈现此病例是因其罕见性、相对较少的文献报道，也是为了强调这种极其罕见疾病在双胞胎中的临床表现。
