Primer caso clínico de Síndrome de Pai en México / First clinical case of Pai Syndrome in México

Descrito por primera vez en 1987, el Síndrome de Pai se considera una variante rara de la displasia fronto-nasal. Consiste en el fallo del cierre de la línea media y sus signos son encéfalo-cráneo-faciales. Los hallazgos que conforman el síndrome son: la presencia de una variedad de pólipos (intranasal, cutáneos y alveolar del maxilar superior), fisura ósea y labiopalatina en la línea media, lipoma intracraneal y agenesia parcial o total del cuerpo calloso. Su causa es desconocida y su presentación esporádica. La incidencia se estima en 1 de cada 20.000 a 40.000 recién nacidos, siendo el sexo femenino el más afectado. El objetivo de este artículo es presentar el primer caso clínico documentado en México con estas características, y de acuerdo al último caso publicado en 2014 por Mee Hong, es el número 38 de la literatura mundial (AU)

Described by the first time in 1987, Pai's Syndrome is considered a rare variant of the displasia fronto-nasal. It consists of the fault of the closing of the middle line and his signs are encephalo-craneo-facial. The findings of the syndrome are the presence of a variety of polyps (intranasal, cutaneous and alveolar of the upper jaw), bony and lip-palate cleft in the middle line, intracranial lipoma and partial or total agenesia of the corpus callosum. The etiology of this syndrome is not known, and its presentation is sporadic. The incidence is estimated in 1 of every 20.000-40.000 newborn children, being the most affected feminine sex. The aim of this article is to present the first clinical case reported in Mexico with these characteristics and that in agreement to the last case published in 2014 for Mee Hong, it is number 38 of the world literature (AU)

Nasal polyposis: an overview of differential diagnosis and treatment.

Nasal polyposis is a chronic inflammatory disease of the nasal and paranasal sinus mucosa. Etiology remains unclear, but allergy, asthma, aspirin sensitivity, cystic fibrosis, and infection have been associated with the disease. Clinically, nasal obstruction, anosmia/hyposmia, rhinorrhea, postnasal drainage, headaches, facial pain, and sleep disorders constitute the main symptoms. Intranasal examination reveals bilateral, mobile, grey, smooth and semi translucent polypoid masses that usually originate in the ethmoid sinuses or the middle meatus. Differential diagnosis is important to rule out congenital anomalies, as well as benign or malignant tumors. In the evaluation of nasal polyps, computerized tomography is helpful especially in determining the extent of the disease and in planning the surgical approach. Management of nasal polyposis consists of medical therapy and surgery. Surgical treatment is performed in cases that are refractory to medical therapy. Recurrence of nasal polyps is quite common and medical therapy after surgery is often necessary for avoiding recurrences. This paper aims to summarize the current trends in the diagnosis, management of nasal polyposis and relevant patents.

Intranasal meningoencephalocele presenting as a nasal polyp--a case report.

We present a case of an intranasal meningoencephalocele masquerading as an 'intranasal polyp' in a 17-month-old child. Nasal meningoencephaloceles are uncommon anomalies and require a high index of suspicion for their diagnosis. Biopsy of such lesions without prior imaging studies can be detrimental because of the risk of cerebrospinal fluid leak and meningitis, and is therefore contraindicated. This case reiterates the fact that any child with an intranasal mass should undergo appropriate imaging studies prior to excisional biopsy.

A further patient with Pai syndrome with autosomal dominant inheritance?

We report a patient with median cleft of the upper lip, cutaneous facial polyps, and lipoma of the corpus callosum who represents a further case of Pai syndrome. The father of the patient showed coloboma of the right iris and shared some facial dysmorphism with his son, thus raising the question of autosomal dominant inheritance.