Male patient, preterm low weight for gestational age, with no relevant family history, who consults the month of life in the Respiratory Endoscopy Service of Garrahan Hospital for unilateral nasal ventilatory failure.
Physical examination revealed a polypoid tumor covered by skin protruding through the right nasal fossa occluding it.
A mass with similar but smaller characteristics is located in the midline of the upper gingiva.
Other findings are: midline mucus of the upper lip, high palate, aplasia cutis frontalis, frontal lacrimal duct or epibulbar dermoid of the right eye.
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Craniofacial computed tomography (CT) revealed the absence of a continuity solution, intracranial presence, agenesis of the corpus callosum and colpocephalia.
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Magnetic resonance imaging (MRI) of the brain and evaluation by neurology were requested.
The patient has a regular socioeconomic and cultural environment.
She attends our service again at 11 months, without the requested studies.
The mother reported that at 3 months she had 2 seizures.
Neurological examination and electroencephalogram were performed, with normal results.
Endoscopic evaluation: Nasal endoscopy confirms that the tumor originates in the septal wall of the right nasal fossa.
Surgical treatment: The endonasal approach and under general anesthesia is completely resected with radiofrequency electrocautery and microsurgical clips, along with the pedunculated gingival lesion, leaving the nasal cavity permeable.
She remains hospitalized after surgery for 7 days.
In our patient, the diagnosis of PS is based on the association of congenital gingival and nasal polyps, intracranial malformations and agenesis of the corpus callosum.
Although there is no median fissure in the upper lip, there is a crusque in its midline, diastema of the maxillary dentition and, in the CT with three-dimensional reconstruction, alveolar fissure.
Normal nasal ventilation was obtained immediately after the procedure.
The patient remains asymptomatic, with no evidence of recurrence after 8 months of follow-up.
Pathological anatomy revealed both malformations.
MRI and genetic studies are pending.
