Tumores nasales congénitos de la linea media / Congenital nasal tumors of the midline in ENT

Las masas nasales congénitas de la línea media se presentan con una frecuencia muy baja ­1/20.000 a 1/40.000 nacidos vivos­. Se trata de hallazgos asintomáticos en el recién nacido y son resultado de anomalías congénitas del desarrollo embrionario, que suelen aparecer como masas en la línea media nasal en un punto cualquiera entre glabela y columela. Estas tumoraciones presentan un riesgo elevado de extensión al sistema nervioso central, lo que es especialmente importante tener en cuenta para prevenir consecuencias tales como la fístula de líquido cefalorraquídeo y/o la aparición de meningitis recidivante. Existen gran cantidad de tumores nasales de la línea media que aparecen en el recién nacido o en el lactante y que constituyen diagnósticos diferenciales de las lesiones congénitas antes descriptas. Describiremos brevemente los más frecuentes según nuestra experiencia. AU

Congenital nasal masses of the midline are very rare ­ 1/20,000 to 1/40,000 live births ­. Nasal tumors are asymptomatic findings in the neonate and are caused by congenital abnormalities during fetal development, usually appearing at the nasal midline between the glabella and columella. These tumors are associated with a high risk of extension to the central nervous system; therefore, it is especially important to prevent the development of a cerebrospinal fluid fistula and/or recurrent meningitis. There is a large number of nasal tumors of the midline in neonates or infants in the differential diagnosis of the above-described congenital lesion. Here we briefly describe the most common nasal tumors seen at our department. AU

Granulomatous uveitis and congenital cataract: a rare association.

INTRODUCTION: The association of a granulomatous uveitis and congenital cataract and is rarely observed in newborn children. We describe the history of two patients presenting simultaneously with these two features in the absence of a TORCH infection. PATIENTS AND METHODS: The first patient, a boy born in 1997, presented to our hospital two days after birth with multiples Koeppe's and Busacca's nodules and bilateral cataract. The second patient, a boy born in 2006, was referred two weeks after birth. He presented with a severe unilateral granulomatous uveitis, multiples iris nodules, a high intraocular pressure of 45 mmHg and a congenital cataract. THERAPY AND OUTCOME: Lens extraction produced a rapid resolution of uveitis in these two patients. TORCH infection was ruled out in both children by history, extensive serologies performed simultaneously in mother and child or PCR of ocular fluids. CONCLUSIONS: A congenital cataract associated with a granulomatous uveitis is an extremely rare association. The removal of the lens resulted in complete resolution of the inflammation: a phacogenic mechanism could be at the origin of ocular inflammation in both cases.

Congenital cholesteatoma associated with blue eardrum.

The classic presentation of congenital cholesteatoma is a pearl behind the anterior-superior quadrant of an intact tympanic membrane. Idiopathic hemotympanum is characterized by a dark blue eardrum, the most prominent feature of which is the presence of cholesterol granulomas. Blue eardrum is associated with eustachian tube dysfunction. Despite the well-established relationship between eustachian tube dysfunction and the development of pediatric cholesteatoma, little has been written concerning the appropriate timing of tympanostomy tube placement. To date, there are no reports of congenital cholesteatoma associated with blue eardrum. A recent case of advanced congenital cholesteatoma (stage IV) associated with blue eardrum was treated using preoperative tympanostomy tube insertion. Tympanostomy tubes were helpful in preventing recurrence of the cholesteatoma after surgery. The case is presented along with a review of the literature.

Delección (mosaico) del cromosoma Y / Delection (mosaic) of chromosome Y

Presentamos el caso de una paciente de 3 meses. Ingresada de recién nacida por ictericia no isoinmune. Soplo sistólico y granuloma umbilical. Oligoamnios. Abuelo paterno con leucemia crónica. Parto al término eutócico, con un peso al nacimiento de 3.720 g. Durante el periodo neonatal es ingresado en la 1ª semana de vida por ictericia (bilirrubina 21 mg/dl). Fue vista por traumatología infantil por pies cavos bilaterales con leve varo. Acude a Cardiología Infantil, a la semana de vida, para estudio de soplo sistólico y por presentar rasgos dismórficos en su fenotipo: fascies tosca. Frente amplia. Sinofidia. Ptosis palpebral. Retronagtia. Tórax: dos mamilas supernumerarias. Auscultación cardiaca: soplo sistolico 1-2/6, no irradiado panfocal sin repercusión hemodinámica. Cariotipo en sangre periférica (cultivo de linfocitos 72 horas estimulados con fitohemaglutinina) con bandas G, muestra dos líneas celulares, una de 46, XY en 6 metafases y otra de 46, X, der. (Y) en 21 metafases. Se aprecia un cromosoma Y de menor tamaño. Estudio de hibridación in situ en sangre periférica (FISH): se ha aplicado la técnica de hibridación in situ fluorescente con la sonda del cromosoma Y, para confirmar que el cromosoma Y diagnosticado mediante bandas G procede del Y (AU)

Surgical treatment of hand disorders in Farber's disease: a case report.

Farber's disease is a rare autosomal recessive disorder caused by a deficiency of acid ceramidase activity whose symptoms include hoarseness, subcutaneous nodules, and painful swollen and contracted joints. This case report focuses on hand abnormalities and surgical treatment of hand disorders in Farber's disease. A 9-year-old girl had occasional painful locking of the metacarpophalangeal joints of the middle fingers and severe tenderness of the dorsal aspect of the wrists. Resection of several nodules within the metacarpophalangeal joint and of a nodule that was firmly attached to the extensor pollicis longus tendon beneath the extensor retinaculum relieved pain and enabled the patient to perform daily activities.

[Disseminated lipogranulomatosis (Farber disease) with hydrops fetalis]. / Disseminierte Lipogranulomatose (M. Farber) mit Hydrops fetalis.

We report on a female preterm infant of 29 weeks' gestation with severe hydrops fetalis who died 3 days post natum as a result of disseminated intravascular coagulation. Autopsy findings included anasarca, bilateral pleural effusions, ascites and hepatosplenomegaly as well as multiple, up to pinhead sized, white granulomas on the surface of liver, spleen and lungs. Microscopy revealed storage macrophages of the reticuloendothelial system, especially in liver, spleen and bone marrow, the lymphatic organs, the salivary glands, the thyroid gland and the suprarenal medulla. Cerebrum, heart, kidneys, intestines and placenta were not afflicted. Atrophy of the lymphatic compartments in the spleen, lymph nodes and thymus, as well as disorder of the liver texture, are presumably a secondary result. The diagnosis of Farber's disease was established biochemically by the demonstration of ceramide depositions in the spleen, and in fibroblast cultures in situ by the accumulation of ceramide released from loaded radioactive glucosylceramide. Ultrastructurally, corresponding storage lysosomes were found in macrophages. To our knowledge this is the first account of Farber's disease in a preterm infant with hydrops fetalis.

Clinical presentation of rare appendiculo-omphalic anomalies.

The umbilicus is the site of a number of well-recognized and unusual congenital anomalies. The authors report two rare anomalies of the umbilicus, one involving the appendiceal artery and the other the appendix vermiformis.

Granuloma de colesterol congênito do ápice petroso: uma forma com graves complicaçöes / Congenital cholesterol granulomas of the petrous apex: a form with serious complications

Um caso de grande granuloma de colesterol do ápice petroso apresentou-se com paralisia facial periférica e cofose levou os autores a destacar o diagnóstico precoce na prevençao de sequelas variadas.

[Congenital telangiectasic (pyogenic) granuloma of the anus: a rare location of a benign neonatal tumor]. / Granuloma teleangectasico ("piogenico") congenito dell'ano: una rara sede di "tumore" benigno neonatale.

The neonatal anus is an unusual anatomic site for granuloma pyogenicum (GP). Several synonisms exist for GP (at least 16). It is a tumor of soft tissues (benign vascular tumor). Both a maternal variant (the epulis) and a hamartomatous perinatal one are known. The terms teleangiectasic granuloma and pyogenic or infected granuloma have been used to describe respectively the early and late stages of the lesion. In the anal site it appears as a sessile or peduncolated, red-wine, soft little tumor of the size of a millet or barley grain. Histologically it is a capillary haemangioma with inflammatory infiltrates in its soft connective tissue stroma and covered with thinned epidermis. During 1988 we have seen two cases in 2000 consecutive newborns, both in females.

Neonatal congenital epulis.

Congenital epulis is not a common lesion. 2 rare neonatal multiple cases are reported. The treatment of choice of these lesions is radical excision during early infancy.

Firm swelling on the anterior maxillary gingiva of an infant.

A female infant with a congenital granular cell epulis on the maxillary gingiva has been described. This is consistent with the most common clinical presentation of this lesion. The similarities and differences of this lesion are compared with granular cell tumor.

Congenital epulis (gingival granular cell tumor): ultrastructural evidence of origin from pericytes.

The congenital epulis (gingival granular cell tumor) is a rare lesion of unknown origin found only in newborn infants. Remarkable similarities are noted between this lesion and the adult granular cell tumor (myoblastoma) by both light and electron microscopy. An electron microscopic study of a lesion from the anterior mandibular ridge in a newborn male infant was performed. No Schwann cells, axon fibers, odontogenic elements, or any muscle cells could be found. Cytoplasmic features were similar to those in adult granular cell tumors. Cells which appeared to be in a transitional state, not yet true granular cells, were found juxtaposed to the vessels in the position of pericytes. Fine-structure details of these cells were consistent with pericytes. Cells of this type found farther from the vessels appeared more like the typical granular cells. The cells were filled with structures of the autophagic type devoid of normal cell organelles. These findings support the theory that these are nonneoplastic, degenerative, or reactive lesions arising from a mesenchymal cell, possibly the pericyte.

Congenital granular-cell epulis. Report of a case.

The congenital granular-cell epulis is an uncommon pedunculated tumor of the alveolar mucosa found only in newborn infants. This lesion can present an alarming appearance and interfere with efforts at nursing. The generally accepted treatment is excision through the pedicle, and recurrence is not to be anticipated. An example of a tumor fulfilling the clinical and histopathologic criteria of this lesion is reported.