The inv dup (15) or idic(15) syndrome: a case report

This report describes a patient who presented with hypotonia and epileptic seizures. She was prenatally diagnosed as a supernumerary chromosome carrier. By means of Fluorescence in Situ Hybridization (FISH) using Vysis Prader-Willi/Angelman region probes, the marker chromosome was double positive for D15Z1 and quadruple positive for SNRPN. Her karyotype was thus interpreted as 47, XX,+ idic(15)(pter→q13::q13→ pter) .ish idic (15)(D15Z1++, SNRPN++++). No sphincters control and signs of kyphoscoliosis may provide additional evidence for the spectrum of clinical manifestations in the inv dup (15) syndrome to be broader than previously considered. The mother had a history of two miscarriages and one molar pregnancy, it suggests she could have been prone to unsuccessful meiosis. The existence of genetic or environmental factors predisposing to chromosomal aberrations and its correlation with the common instability of this chromosomal region are issues to be further investigated...(AU)

Presentación de un paciente con síndrome de Crouzon / Presentation of a Patient with Crouzons Syndrome

Se presentó un enfermo que padece el síndrome de Crouzon (rara entidad heredada en forma autonómica dominante) el cual se diagnosticó mediante hallazgos clínicos confirmados por estudios imagenológicos de una tomografía axial computarizada realizada en agosto de 2009. Se planificó y ejecutó la craniectomía con éxito. La evolución clínica del paciente fue satisfactoria...(AU)

A patient with a rare hereditary disease, called Crouzon´s Syndrome was studied. The clinical diagnosis was confirmed through computer axial tomography in August 2009...(AU)

Enfermedad pediátrica neuropsiquiátrica autoinmune asociada a infección por estreptococo / Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections

El síndrome PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcus) fue descrito recientemente con etiología incierta, pero asociado a infección por estreptococo del grupo A. Los signos clínico clásicos de esta enfermedad son los llamados tics y alteraciones obsesivas- compulsivas los cuales se desarrollan después de alguna infección por estreptococo, probablemente por mecanismos autoinmunes. El uso de antimicrobianos y terapia inmunológica fue investigado y considerado factible en algunos pacientes. Se realizó la siguiente revisión para caracterizar una enfermedad relativamente nueva e identificar los principales aspectos de la fisiopatología, clínica y manejo de los pacientes con este diagnóstico...(AU)

Recently, a new disease was described: pediatric autoimmune neuropsychiatric disorders associated with streptococcus (PANDAS). The etiology of this syndrome was uncertain but it was associated with group A streptococcal infection (GAS). Tics and obsessive-compulsive symptoms are the clinical signs of this disease, which appeared after streptococcal infections, probably through autoimmune mechanisms. The use of antimicrobial and immunologic therapy was considered useful in some patients. This review was carried out aimed at knowing the most important characteristics of this disease as well as the patients` management...(AU)