Neurofibomatosis type 1 with parapharyngeal manifestation in childhood [Abstract in English]

• Autor(a) principal: Steffen, Nédio
• Data de Publicação: 2011
• Outros Autores: Martha, Viviane Feller, Martha, Aline Silveira, Costa, Rafael Lessa
• Tipo de documento: Artigo
• Idioma: por; eng
• Título da fonte: Scientia Medica (Porto Alegre. Online)
• Texto Completo: https://revistaseletronicas.pucrs.br/scientiamedica/article/view/8221
• topic: NEUROFIBROMATOSIS 1/diagnosis; NEUROFIBROMA/complications; PHARYNGEAL NEOPLASMS; CASE REPORTS; CHILD; INFANT.; NEUROFIBROMATOSE 1/diagnóstico; NEUROFIBROMA/complicações; NEOPLASIAS FARÍNGEAS; RELATOS DE CASOS; CRIANÇA; LACTENTE.

Aims: To present a rare case of parapharyngeal involvement in a child with neurofibromatosis type I. Case description: a girl one year and four months old was brought to the clinic of otolaryngology at the Hospital São Lucas da PUCRS because of a swelling in the left parotid region, observed for approximately 30 days. On examination she appeared healthy, and the inspection showed a tumor on the left parotid region, with little mobility. A computed tomography scan with contrast revealed extensive tumor with solid appearance, internal carotid artery bypass to the midline with involvement of the parotid gland and extension into the parapharyngeal space. Excisional biopsy examination with trans-operative freezing revealed a benign neoplasm of neural tissue and the pathological result showed plexiform neuroma. Reviewing the physical examination, three hyperpigmented macules (café au lait spots) were observed in the abdominal region, pointing to the clinical diagnosis of neurofibromatosis type I, or Von Recklinghausen's disease. Conclusions: Neurofibroma of the parapharyngeal space is a rare complication of neurofibromatosis type I, occurring in less than 5% of tumors of the parapharyngeal space. This case report showed the importance of clinical correlation for diagnosis of a rare disease, especially in pediatric patients.