Waardenburg Sendromu ve Proktokolit Birlikteliği Olan Bir Süt Çocuğu

Year 2019, Volume: 13 Issue: 3, 217 - 219, 24.05.2019

Emine Özçelik

https://doi.org/10.12956/tjpd.2018.395

Abstract

Waardenburg Sendromu konjenital sensorinöral sağırlık; bilateral soluk mavi gözler, heterokromi veya bir göz içinde iki renk; piebaldizm, parsiyel albinizm, distopia kantorum (iç kantusların laterale yer değiştirmesi) ile karakterizedir. Sendromun 4 tipi vardır. Literatürde Waardenburg Sendromuna eşlik eden proktokolit ile ilişkili veri bulunmamaktadır. Makalede 2 yaşında kız Waardenburg Sendromu tip 2 (iris heterokromisi, bilateral işitme kaybı) nedeni ile takipli hastada saptanan proktokolit ve amino asit bazlı mama kullanımı sonrası proktokolit bulgularının gerilemesi sunulmuştur.

Keywords

Waardenburg sendromu, Konjenital, Sensörinöral, İşitme kaybı, Heterokromi

Waardenburg Syndrome and Proctocolitis Association in a Infant

Abstract

The Waardenburg Syndrome is characterized by congenital sensorineural deafness, bilateral pale blue eyes, heterochromia or two colors in the same eye, piebaldism, partial albinism, and dystopia cantorum (lateral displacement of inner canthi). There are 4 types of the syndrome. There is no literature data on proctocolitis associated with Waardenburg Syndrome. In this article, we present the results of a 2-year-old female patient with Waardenburg syndrome type 2 (iris heterochromia, bilateral hearing loss) and proctocolitis and discuss the decrease in proctocolitis findings with amino acid-based food use.

Keywords

Waardenburg syndrome, Congenital, Sensorineural, Hearing loss, Heterochromia

References

• 1. Issa S, Bondurand N, Faubert E, Poisson S, Lecerf L, Nitschke P, et al. EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. Hum Mutat 2017;38:581-93.
• 2. Leechawengwongs E, Tison BE, Gopalakrishna GS, Reid BS, Bacino CA, Haws AL, et al. Does short bowel syndrome increase the risk of food allergy and eosinophilic gastrointestinal disease? Observations in Shah-Waardenburg syndrome. J Allergy Clin Immunol 2013;131:251-5.
• 3. Tosun F, Kertmen M, Yetişer S, Satar B, Özkaptan Y. Waardenburg sendromu: Klinik sınıflama ve üç farklı olgu sunumu. Kulak Burun Boğaz Klinikleri 2000;2:37-40.
• 4. Burks AW, Tang M, Sicherer S, Muraro A, Eigenmann PA, Ebisawa M, et al. ICON: food allergy. J Allergy Clin Immunol 2012;129:906-20.
• 5. Fiocchi A, Brozek J, Schünemann H, Bahna SL, von Berg A, Beyer K, et al. World Allergy Organization (WAO) Diagnosis and Rationale for Action against Cow’s Milk Allergy (DRACMA) Guidelines. Pediatr Allergy Immunol 2010;21:1-125.
• 6. Nowak-Węgrzyn A, Jarocka-Cyrta E, Moschione Castro A. Food protein-induced enterocolitis syndrome. J Investig Allergol Clin Immunol 2017;27:1-18.
• 7. Arik Yilmaz E, Soyer O, Cavkaytar O, Karaatmaca B, Buyuktiryaki B, Sahiner UM, et al. Characteristics of children with food protein-induced enterocolitis and allergic proctocolitis. Allergy Asthma Proc 2017;38:54-62.
• 8. Sapan N, Demir E, Tamay Z, Akçakaya N, Güler N, Yazıcıoğlu M, ve ark. Çocuk alerji ve astım akademisi besin alerjisi tanı ve tedavi protokolü. Türk Pediatri Arşivi 2013;48:270-4.
• 9. Yüce A, Dalgıç B, Çullu-Çokuğraş F, Çokuğraş H, Kansu A, Alptekin-Sarıoğlu A, et al. Cow`s milk protein allergy awareness and practice among Turkish pediatricians: A questionnaire-survey. Turk J Pediatr 2017;59:233-43.
• 10. Carrascosa MF, Salcines-Caviedes JR. Waardenburg syndrome. Mayo Clin Proceeding 2013;88:e125.