Dados do Trabalho

Título

WAARDENBURG SYNDROME: A CASE REPORT

Apresentação do caso único

Patient P.J.L, 8 years old, male, born at term, first child of non-consanguineous parents, with no complications during prenatal or perinatal periods. At birth, presented with hypopigmentation on the skin of the right upper limb, right eyelashes and eyebrow, along with blue eyes. Accompanying caregiver could not provide information regarding the newborn hearing screening. Patient was evaluated and followed up for growth and development. Motor development was appropriate; however, there was a delay in speech development. Subsequently diagnosed with bilateral neurosensory hearing loss, undergoing bilateral cochlear implantation at 3 years of age. There is no family history of similar conditions. He started attending regular school only in July 2023 due to the lack of inclusive educational environment in the home state. Began uttering his first words at 4 years old; currently uses few isolated words and communicates non-verbally through gestures understood only by family members. Has not yet learned to read, only writing his first name. In 2024, he was referred to a rare diseases outpatient clinic due to the mentioned phenotypic characteristics associated with neurosensory hearing loss and speech delay. Following medical history and physical examination, the patient was clinically diagnosed with Waardenburg Syndrome.

Discussão

Waardenburg Syndrome, a genetic condition with autosomal dominant inheritance or de novo mutations, presents variability in expression and penetrance. This case lacks familial history, suggesting a sporadic genetic variant. The syndrome has four subtypes, each with distinct clinical features. Diagnosis in this case meets clinical criteria pending genetic subtype confirmation.
Delayed diagnosis of neurosensory hearing loss impacts language development; bilateral loss is common. Early interventions like cochlear implants can enhance hearing and speech abilities. Despite implantation at age 3, this patient faced developmental delays due to educational and therapeutic deficits.

Comentários finais

Understanding Waardenburg Syndrome and its genetic pattern is essential for providing accurate diagnosis, appropriate genetic counseling, and effective management of clinical manifestations for patients and their families. Early diagnosis of neurosensory hearing loss is crucial to initiate timely interventions like cochlear implants and to adapt the educational environment to promote proper language and communication skills development.

Referências

1. KASSEM, L. H.; AHMADO, M. F.; ALGANAMEH, M. S. A rare case of seven siblings with Waardenburg syndrome: a case report. Journal of Medical Case Reports. v.192, n.12, p.1-5, 2018.

2. Ahmed jan N, Mui RK, Masood S. Síndrome de Waardenburg. [Atualizado em 4 de julho de 2023]. Em: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Disponível em: https://www.ncbi.nlm.nih.gov/books/NBK560879/

3. Martins CHF, Yoshimoto FR, Freitas PZ. Síndrome de Waardenburg: achados audiológicos em 2 irmãos. Rev Bras Otorrinolaringol [Internet]. 2003Jan;69(1):117–9. Available from: https://doi.org/10.1590/S0034-72992003000100019

4. Ren SM, Kong XD, Wu QH, Jiao ZH, Chen C, Qin ZB. [Análise da variação genética em pacientes com síndrome de Waardenburg tipo II por sequenciamento de próxima geração]. Zhonghua Yi Xue Za Zhi. 24 de março de 2020; 100 (11):853-858.


5. Nasser, L. S., Paranaíba, L. M. R., Frota, A. C., Gomes, A., Versiani, G., & Martelli Júnior, H.. (2012). Síndrome de Waardenburg: aspectos oftalmológicos e critérios de diagnóstico: relatos de casos. Arquivos Brasileiros De Oftalmologia, 75(5), 352–355. https://doi.org/10.1590/S0004-27492012000500012

6. Song J, Feng Y, Acke FR, Coucke P, Vleminckx K, Dhooge IJ. Perda auditiva na síndrome de Waardenburg: uma revisão sistemática . Clin Genet . 2016; 89 ( 4 ):416‐425. doi: 10.1111/cge.12631

7. Lovett A, Eastwood M, Metcalfe C, Muzaffar J, Monksfield P, Bance M. Outcomes of Cochlear implantation in early-deafened patients with Waardenburg syndrome: A systematic review and narrative synthesis. Laryngoscope Investig Otolaryngol. 2023 Jul 11;8(4):1094-1107. doi: 10.1002/lio2.1110. PMID: 37621295; PMCID: PMC10446317.

Palavras Chave

Waardenburg; Deafness; Hypopigmentation