Outcome of Expanded Newborn Screening Among 194 000 Neonates at Northeast México.

Objectives. To describe the results of a 16-year experience of a state-coverage expanded newborn screening program (NBSP) in Northeast México. Methods. Between 2002 and 2017, dried blood spots of newborns were screened for congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), biotinidase deficiency, galactosemia, cystic fibrosis, and glucose-6-phosphate dehydrogenase (G6PD) deficiency via immunofluorescence and amino and fatty acid disorders and organic acidemias using tandem mass spectrometry. Frequency rates were determined. Results. Overall, 192 487 samples were processed; 99.4% had negative results, and 598 were diagnosed. The frequency was 3.01/1000 newborns. G6PD deficiency, CH, amino acidemia, organic acidemia, cystic fibrosis, CAH, fatty acid oxidation disorder, galactosemia, and biotinidase deficiency cases were 1:773, 1:962, 1:4277, 1:4476, 1:11,322, 1:10,693, 1:10,693, 1:38,497, and 1:64,162, respectively. Conclusion. Using different technologies in NBSP increased the number of conditions detected, facilitating infant morbidity and mortality prevention. The frequency of disorders depends on the population's genetic background and diagnostic capacity.

Surgical resection therapy of a rare presentation of persistent Mullerian duct syndrome: a case review.

Persistent Mullerian Duct Syndrome (PMDS) is an extremely rare disease with less than 300 cases recorded in medical literature. Our patient was a 37 year old male who presented at the medical office with hematospermia as his sole complaint. He had previously undergone left orchidopexy and presented with hypotrophic left testicle and right testicle agenesis. PMDS differential was considered with the clear observation of a uterus-like structure during pelvic ultrasonography. The organs were later studied in magnetic resonance imaging and confirmed by post-surgery anatomopathological examination. Patient was discharged 24 h after surgery and developed azoospermia post-surgery.

Operative correction of an extremely rare condition called Persistent Mullerian Duct Syndrome (PMDS). What is PMDS? PMDS is a disease which has less than 300 cases in medical literature. It is a congenital condition characterized by the development of female genital organs such as the uterus and ovaries, in an otherwise normal male individual. The fetal development of these structures begins when the male fetus develops his genitalia, during the period when he must produce a hormone (anti-mullerian hormone), which suppresses female genitalia growth. Since this fetal stage is the turning point for genital development, lack of this hormone commonly results in the presence of functional female genital organs in an adult male, which characterizes the syndrome. Multiple reports also associate the syndrome with ectopic testis (cryptorchidism) or gonadal absence and dysfunctional sexual cell production. What was the aim of the report? The aim is to present a rare presentation of an already extremely rare disease in order to enrich the literature with another case of PMDS and the outcome of surgical correction. How was the patient treated? After discovering female organs in the male pelvis during an ultrasound scan, an elective surgery was performed to evaluate the removal of the uterus, fallopian tubes, ovary and vaginal canal through video laparoscopy. Why is this case important? The overall medical knowledge about PMDS is rather limited due to the reduced number of cases and the relatively wide variety of presentations. This article is useful to present a rather rare presentation, in which cryptorchidism and testicular agenesis were concomitant with hematospermia. Other than that, the diagnosis was done late in the patient's life, having lived over three decades with female genitals in his pelvis without any malignant (cancerous) mutations. The case report can also provide a record for the outcome of azoospermia, which is the absence of motile (and hence viable) sperm in the semen, following a non-complicated post-surgical recovery, which suggests unknown mechanisms may be involved in gonadal development after birth, and a different endocrine balance in patients with the syndrome.

First occurrence of Arnold Chiari type II malformation and associated abnormalities in a Gir calf produced in vitro from Brazil - case report / [Primeira ocorrência de malformação de Arnold Chiari tipo II e anormalidades associadas em uma bezerra Gir de produção in vitro no Brasil - relato de caso]

This study characterized the clinical, radiological, ultrasound, and necroscopic findings of a case of Arnold-Chiari type II malformation in a Gir breed calf from Brazil. The animal was hospitalized at sixty days of age, in permanent sternal recumbency, cutaneous appendix at the 4th lumbar vertebra and kyphoscoliosis of the caudal and lumbosacral thoracic spine. Radiographic examination of the spine and skull revealed spina bifida and suspected occipital hypoplasia. Upon examination of myelography with an injection of lumbar and atlantooccipital contrast, it was possible to visualize the meningocele at the 4th lumbar vertebra region and findings at the rhombencephalon level of increased regional pressure with failure to fill the contrast in the posterior fossa, in the presence of clear demarcation of the circumvolutions of the cerebral cortex and the subarachnoid space of the cervical spinal cord. Ultrasonographic examination of the cerebellum showed an insinuation of the cerebellar worm through the foramen magnum. The animal did not show changes in complete blood count, biochemical series, and cerebrospinal fluid and was negative for Pestivirus. There was a worsening of the clinical conditions and the animal died. This malformation of unknown etiology must be studied as a differential diagnosis of the nervous system disorders.(AU)

Este estudo caracterizou os achados clínicos, radiológicos, ultrassonográficos e necroscópicos de um caso de malformação de Arnold-Chiari tipo II em uma bezerra Gir no Brasil. O animal foi hospilatizado aos 60 dias de idade, apresentando decúbito esternal permanente, apêndice cutâneo na altura da quarta vértebra lombar e cifoescoliose da coluna vertebral torácica caudal e lombossacra. Ao exame radiográfico da coluna e do crânio, foram observadas espinha bífida e suspeita de hipoplasia occipital. Ao exame de mielografia com injeção de contraste lombar e atlanto-occipital, foi possivel visualizar a meningocele na altura da quarta vértebra lombar e achados em nível rombencefálico de aumento da pressão regional com falha de preenchimento do contraste na fossa posterior, na presença de nítida demarcação das circunvoluções do córtex cerebral e do espaço subaracnoide da medula espinhal cervical. Ao exame ultrassonográfico do cerebelo, foi observada insinuação do verme cerebelar através do forame magno. O animal não apresentou alterações em hemograma completo, série bioquímica e fluido cérebro-espinhal e foi negativo para Pestivirus. Houve uma piora do quadro clínico e o animal morreu. Essa malformação de etiologia desconhecida deve ser estudada como um diagnóstico diferencial.(AU)

Dorsal Displacement of the Soft Palate Secondary to Persistent Frenulum of the Epiglottis in Neonatal Foal.

Dorsal displacement of the soft palate (DDSP) usually occurs in athletic adult horses. Congenital DDSP in foals secondary to the persistent frenulum of the epiglottis is rarely observed. The aim of this report was to describe a case of a seven-day-old female neonate Quarter Horse presenting dysphagia, milk reflux through the nostrils and mouth, and expiratory dyspnea since 4 days. Thoracic auscultation was indicative of aspiration pneumonia. Diagnosis of DDSP associated with local inflammation was made after endoscopic examination of upper respiratory tract. Radiographic examination was performed to rule out hypoplasia of the epiglottis. No clinical improvement was observed after anti-inflammatory treatment with flunixin meglumine. Oral endoscopy under general anesthesia revealed that the displacement of the soft palate was caused by a persistent frenulum of the epiglottis. Using a 30° rigid endoscope and a curved laparoscopic scissors, the frenulum was transected. After surgery, no dysphagia or dyspnea at rest was observed. However, discreet respiratory noise persisted during exercise for 5 days postoperatively. After discharge, the owner reported that the animal was completely normal during exercise. The animal is currently 3 years old and is developing a normal athletic performance. Persistent frenulum of the epiglottis should be considered while examining neonates with nasal milk reflux associated with expiratory dyspnea. This case report emphasizes the importance of the differential diagnosis for DDSP and for DDSP secondary to the persistent frenulum of the epiglottis in neonatal foals. It also underlines the importance of oral endoscopic examination for diagnosis.

[Congenital radial head dislocation: report of two cases]. / Luxación congénita de cabeza radial: reporte de dos casos.

INTRODUCTION: Congenital dislocation of the Radial head is a condition that has been described in a few cases in the international literature, the anterior and lateral dislocation were the less frequent forms of presentation with 15% of cases, each, and the posterior dislocation the most frequent with 70% of the total cases reported. However, this pathology is considered the most frequent congenital pathology of the elbow in children. The present study describes the case of a patient with congenital dislocation of elbow anterior variety and another case with dislocation lateral variety, both diagnosed at an early age, in which it has been decided for conservative management and an annual follow-up. A bibliographic review of the subject is also carried out. DISCUSSION: The congenital elbow dislocation usually has a benign evolution, being painless and not very limiting for the patient, so it can be managed conservatively. Pain and limited movement are indicative of surgical treatment. There are multiple surgical treatments for this entity, however they are not widely accepted due to the complications and poor results presented by them.

INTRODUCCIÓN: La luxación congénita de cabeza radial es un padecimiento que se ha descrito en contados casos en la literatura internacional, siendo la luxación anterior y lateral las formas de presentación menos frecuentes con 15% de los casos cada una y la luxación posterior la más frecuente con 70% del total de los casos reportados. Sin embargo, esta patología es considerada la patología congénita más frecuente del codo en el niño. Se presenta el caso de un paciente con luxación congénita de codo variedad anterior y otro caso con luxación variedad lateral, ambos diagnosticados a temprana edad, en los que se decidió realizar un manejo conservador y un seguimiento anual. Asimismo, se hizo una revisión bibliográfica del tema. DISCUSIÓN: La luxación congénita de codo tiene por lo general una evolución benigna, siendo indolora y poco limitante para el paciente, por lo que puede ser manejada de manera conservadora. El dolor y la limitación de movimientos son indicativos de un tratamiento quirúrgico; sin embargo, no son ampliamente aceptados debido a las complicaciones y resultados deficientes que presentan.

Luxación congénita de cabeza radial: reporte de dos casos / Congenital radial Head dislocation: report of two cases

Resumen: Introducción: La luxación congénita de cabeza radial es un padecimiento que se ha descrito en contados casos en la literatura internacional, siendo la luxación anterior y lateral las formas de presentación menos frecuentes con 15% de los casos cada una y la luxación posterior la más frecuente con 70% del total de los casos reportados. Sin embargo, esta patología es considerada la patología congénita más frecuente del codo en el niño. Se presenta el caso de un paciente con luxación congénita de codo variedad anterior y otro caso con luxación variedad lateral, ambos diagnosticados a temprana edad, en los que se decidió realizar un manejo conservador y un seguimiento anual. Asimismo, se hizo una revisión bibliográfica del tema. Discusión: La luxación congénita de codo tiene por lo general una evolución benigna, siendo indolora y poco limitante para el paciente, por lo que puede ser manejada de manera conservadora. El dolor y la limitación de movimientos son indicativos de un tratamiento quirúrgico; sin embargo, no son ampliamente aceptados debido a las complicaciones y resultados deficientes que presentan.

Abstract: Introduction: Congenital dislocation of the Radial head is a condition that has been described in a few cases in the international literature, the anterior and lateral dislocation were the less frequent forms of presentation with 15% of cases, each, and the posterior dislocation the most frequent with 70% of the total cases reported. However, this pathology is considered the most frequent congenital pathology of the elbow in children. The present study describes the case of a patient with congenital dislocation of elbow anterior variety and another case with dislocation lateral variety, both diagnosed at an early age, in which it has been decided for conservative management and an annual follow-up. A bibliographic review of the subject is also carried out. Discussion: The congenital elbow dislocation usually has a benign evolution, being painless and not very limiting for the patient, so it can be managed conservatively. Pain and limited movement are indicative of surgical treatment. There are multiple surgical treatments for this entity, however they are not widely accepted due to the complications and poor results presented by them.

Crecimiento intrauterino restringido como síntoma guía para el diagnóstico genético prenatal del síndrome de Wolf-Hirschhorn en gestación gemelar bicorial biamniótica / Restricted Intrauterine Growth as a Guiding Symptom for Prenatal Genetic Diagnosis of Wolf-Hirschhorn Syndrome in Bicorial Diamniotic Twin Gestation

El síndrome de Wolf Hirschhorn, también conocido como monosomía del brazo corto del cromosoma 4 (4p) o síndrome 4p-, es una rara enfermedad genética descrita por primera vez en el año 1961 por los doctores Cooper y Hirschhorn. El objetivo del trabajo es presentar un caso clínico sobre el síndrome de Wolf-Hirschhorn, que es un trastorno genético raro y aún bastante desconocido que cursa con múltiples anomalías morfológicas congénitas, así como con un retraso neurológico e intelectual de grado variable. La prevalencia de este síndrome es extremadamente baja, teniendo en cuenta que la cifra puede estar infraestimada, dada las pérdidas gestacionales precoces y la dificultad en el diagnóstico prenatal. Reportamos el caso de una paciente con gestación gemelar bicorial biamniótica tras un ciclo de FIV-ICSI, en el que al segundo gemelo se diagnosticó un Síndrome de Wolf-Hirschhorn, luego del estudio por una discordancia de pesos estimados y crecimiento intrauterino restringido de este segundo feto. El patrón clásico de presentación clínica se caracteriza por el desarrollo de alteraciones craneofaciales importantes, retraso en el crecimiento normal tanto prenatal como posnatal y deficiencia mental e intelectual de grado variable. El diagnóstico prenatal debe ser realizado por expertos. Puede sospecharse por un crecimiento intrauterino restringido, ya que se da en 80-90 por ciento de los fetos con esta patología. Una vez diagnosticado, se recomienda el estudio genético de los padres, dado que hasta 15 por ciento de los progenitores pueden padecer un reordenamiento cromosómico equilibrado en el brazo corto del cromosoma 4(AU)

Wolf Hirschhorn syndrome, also known as monosomy of the short arm of chromosome 4 (4p) or 4p-syndrome, is a rare genetic disorder first described in 1961 by doctors Cooper and Hirschhorn. The prevalence of this syndrome is extremely low, taking into account that the figure may be underestimated given the early gestational losses and the difficulty in prenatal diagnosis. The objective of the study is to present a clinical case of Wolf-Hirschhorn syndrome, presenting with multiple congenital morphological anomalies, as well as a neurological and intellectual retardation of variable degree. We report the case of a patient with a bicorial biamniotic twin gestation after a cycle of IVF-ICSI. The second twin was diagnosed with a Wolf-Hirschhorn syndrome, after performing the corresponding study due to a discordance of estimated weights and restricted intrauterine growth of this second fetus. The development of important craniofacial alterations, delay of normal prenatal and postnatal growth, and mental and intellectual deficiency of variable degree characterize the classic clinical presentation. Experts must make prenatal diagnosis. Wolf-Hirschhorn syndrome can be suspected by a restricted intrauterine growth, as it occurs in 80-90 percent of fetuses with this pathology. Once diagnosed, the genetic study of the parents is recommended, since up to 15 percent of the parents can suffer a balanced chromosomal rearrangement in the short arm of chromosome 4(AU)

Síndrome de Meckel Gruber en recién nacido indígena sin control prenatal / Meckel Gruber Syndrome in an Indigenous Newborn with No Prenatal Control

En el Hospital José María Velasco Ibarra de la ciudad del Tena, provincia de Napo, en la República de Ecuador, se reportó el caso de un neonato con Síndrome de Meckel Gruber, de sexo femenino, fruto de un embarazo sin seguimiento prenatal, hijo de padres indígenas no consanguíneos, provenientes de la comunidad amazónica Tamiahurco ubicada en Misahuallí. En este recién nacido se presentó la triada diagnóstica al respecto: riñones hiperplásicos poliquísticos, encefalocele occipital y polidactilia postaxial bilateral, determina el diagnóstico de certeza de esta enfermedad, en la que al menos dos de estos elementos deben estar presentes. Además, puede cursar con malformaciones a nivel oral, genital, del Sistema Nervioso Central (SNC) y fibrosis hepática(AU)

At José María Velasco Ibarra Hospital in Tena, Napo province, in the Republic of Ecuador, the case of a female neonate with Meckel Gruber Syndrome is reported. This infant is the result of a pregnancy with no prenatal follow-up, non-consanguineous indigenous parents, from the Tamiahurco Amazon community, in Misahuallí. This newborn had the diagnostic triad of polycystic hyperplastic kidneys, occipital encephalocele and bilateral postaxial polydactyly, which determined this disease diagnosis of certainty, in which at least two of these elements must be present. Other symptoms are oral, genital malformations, hepatic fibrosis and malformations of the Central Nervous System (CNS)(AU)

Crecimiento intrauterino restringido como síntoma guía para el diagnóstico genético prenatal del síndrome de Wolf-Hirschhorn en gestación gemelar bicorial biamniótica / Restricted Intrauterine Growth as a Guiding Symptom for Prenatal Genetic Diagnosis of Wolf-Hirschhorn Syndrome in Bicorial Diamniotic Twin Gestation

El síndrome de Wolf Hirschhorn, también conocido como monosomía del brazo corto del cromosoma 4 (4p) o síndrome 4p-, es una rara enfermedad genética descrita por primera vez en el año 1961 por los doctores Cooper y Hirschhorn. El objetivo del trabajo es presentar un caso clínico sobre el síndrome de Wolf-Hirschhorn, que es un trastorno genético raro y aún bastante desconocido que cursa con múltiples anomalías morfológicas congénitas, así como con un retraso neurológico e intelectual de grado variable. La prevalencia de este síndrome es extremadamente baja, teniendo en cuenta que la cifra puede estar infraestimada, dada las pérdidas gestacionales precoces y la dificultad en el diagnóstico prenatal. Reportamos el caso de una paciente con gestación gemelar bicorial biamniótica tras un ciclo de FIV-ICSI, en el que al segundo gemelo se diagnosticó un Síndrome de Wolf-Hirschhorn, luego del estudio por una discordancia de pesos estimados y crecimiento intrauterino restringido de este segundo feto. El patrón clásico de presentación clínica se caracteriza por el desarrollo de alteraciones craneofaciales importantes, retraso en el crecimiento normal tanto prenatal como posnatal y deficiencia mental e intelectual de grado variable. El diagnóstico prenatal debe ser realizado por expertos. Puede sospecharse por un crecimiento intrauterino restringido, ya que se da en 80-90 por ciento de los fetos con esta patología. Una vez diagnosticado, se recomienda el estudio genético de los padres, dado que hasta 15 por ciento de los progenitores pueden padecer un reordenamiento cromosómico equilibrado en el brazo corto del cromosoma 4(AU)

Wolf Hirschhorn syndrome, also known as monosomy of the short arm of chromosome 4 (4p) or 4p-syndrome, is a rare genetic disorder first described in 1961 by doctors Cooper and Hirschhorn. The prevalence of this syndrome is extremely low, taking into account that the figure may be underestimated given the early gestational losses and the difficulty in prenatal diagnosis. The objective of the study is to present a clinical case of Wolf-Hirschhorn syndrome, presenting with multiple congenital morphological anomalies, as well as a neurological and intellectual retardation of variable degree. We report the case of a patient with a bicorial biamniotic twin gestation after a cycle of IVF-ICSI. The second twin was diagnosed with a Wolf-Hirschhorn syndrome, after performing the corresponding study due to a discordance of estimated weights and restricted intrauterine growth of this second fetus. The development of important craniofacial alterations, delay of normal prenatal and postnatal growth, and mental and intellectual deficiency of variable degree characterize the classic clinical presentation. Experts must make prenatal diagnosis. Wolf-Hirschhorn syndrome can be suspected by a restricted intrauterine growth, as it occurs in 80-90 percent of fetuses with this pathology. Once diagnosed, the genetic study of the parents is recommended, since up to 15 percent of the parents can suffer a balanced chromosomal rearrangement in the short arm of chromosome 4(AU)

Síndrome de Meckel Gruber en recién nacido indígena sin control prenatal / Meckel Gruber Syndrome in an Indigenous Newborn with No Prenatal Control

En el Hospital José María Velasco Ibarra de la ciudad del Tena, provincia de Napo, en la República de Ecuador, se reportó el caso de un neonato con Síndrome de Meckel Gruber, de sexo femenino, fruto de un embarazo sin seguimiento prenatal, hijo de padres indígenas no consanguíneos, provenientes de la comunidad amazónica Tamiahurco ubicada en Misahuallí. En este recién nacido se presentó la triada diagnóstica al respecto: riñones hiperplásicos poliquísticos, encefalocele occipital y polidactilia postaxial bilateral, determina el diagnóstico de certeza de esta enfermedad, en la que al menos dos de estos elementos deben estar presentes. Además, puede cursar con malformaciones a nivel oral, genital, del Sistema Nervioso Central (SNC) y fibrosis hepática(AU)

At José María Velasco Ibarra Hospital in Tena, Napo province, in the Republic of Ecuador, the case of a female neonate with Meckel Gruber Syndrome is reported. This infant is the result of a pregnancy with no prenatal follow-up, non-consanguineous indigenous parents, from the Tamiahurco Amazon community, in Misahuallí. This newborn had the diagnostic triad of polycystic hyperplastic kidneys, occipital encephalocele and bilateral postaxial polydactyly, which determined this disease diagnosis of certainty, in which at least two of these elements must be present. Other symptoms are oral, genital malformations, hepatic fibrosis and malformations of the Central Nervous System (CNS)(AU)

Mucoperiosteal Flap Necrosis after Primary Palatoplasty in Patients with Cleft Palate.

BACKGROUND: The prevalence of flap necrosis after palatoplasty in patients with cleft palate. The prevalence of mucoperiosteal flap necrosis after palatoplasty remains unknown, and this complication is rare. This event is highly undesirable for both the patient and the surgeon. We present here a new scale to evaluate the degree of hypoplasia of the palate and identify patients with cleft palate at high risk for the development of this complication. METHODS: In this case series, a 20-year retrospective analysis (1994-2014) identified patients from our records (medical records and screening day registries) with nonsyndromic cleft palate who underwent operations at 3 centers. All of these patients underwent operations using 2-flap palatoplasty and also underwent a physical examination with photographs and documentation of the presence of palatal flap necrosis after primary palatoplasty. RESULTS: Palatal flap necrosis was observed in 4 cases out of 1,174 palatoplasties performed at these centers. The observed prevalence of palatal flap necrosis in these groups was 0.34%. CONCLUSIONS: The prevalence of flap necrosis can be reduced by careful preoperative planning, and prevention is possible. The scale proposed here may help to prevent this complication; however, further studies are necessary to validate its utility.

Cisto ducto tireoglosso: relato de caso e revisão de literatura / Thyroglossal duct cyst: case report and literature review

O cisto do ducto tireoglosso acomete principalmente crianças em idade pré-escolar, sendo uma das lesões mais comuns da linha média do pescoço. O presente artigo apresentará um caso de paciente com cisto do duto tireoglosso com diagnóstico realizado somente na adolescência, objetivando mostrar a importância do diagnóstico precoce desta patologia pelo risco de malignização da mesma.

The thyroglossal duct affects mainly children in preschool age, one of the most common injuries of the midline of the neck. This article will present a case of a patient with thyroglossal duct cyst with diagnosis performed only in adolescence, aiming to show the importance of early diagnosis of this pathology at risk of malignant transformation of it.

Síndrome de Bland-White-Garland / Bland-White-Garland syndrome

El síndrome de Bland-White-Garland constituye un defecto congénito poco frecuente, pero grave; el 90 por ciento de los pacientes mueren en el primer año de vida si no reciben tratamiento. Desde el período previo a la ecocardiografía hasta la actualidad se describe en los textos una prevalencia de 1 por 300 000 nacidos vivos. Su forma de presentación clínica es variada, y a pesar de ser una anomalía de origen congénito, no es exclusiva de las edades pediátricas. Existen niños que padecen la variedad adulta del síndrome, sujetos enmarcados bajo la fachada clínica de otras entidades nosológicas, o, incluso, que cursan de manera silente, por lo que constituye un grave problema de salud. Su tratamiento es quirúrgico, con supervivencia y pronóstico apropiados si se diagnostica en etapa precoz(AU)

Bland-White-Garland syndrome is a rare but serious congenital defect since 90 percent of patients may die in the first year of life if they are not duly treated. From the period prior to the emergence of echocardiography up to the present day, the prevalence described in literature is 1 percent 300 000 live births. Its clinical presentation is varied, and in spite of the fact that it is an anomaly of congenital origin, it does not only occur in pediatric ages. There are children suffering the adult variety of the syndrome; others who are masked under the clinical umbrella of other diseases or even children who are asymptomatic, so this syndrome can represent a serious health problem. Surgical treatment is the choice, with adequate prognosis and survival if diagnosis is made at early phase(AU)

Síndrome de Bland-White-Garland / Bland-White-Garland syndrome

El síndrome de Bland-White-Garland constituye un defecto congénito poco frecuente, pero grave; el 90 % de los pacientes mueren en el primer año de vida si no reciben tratamiento. Desde el período previo a la ecocardiografía hasta la actualidad se describe en los textos una prevalencia de 1 por 300 000 nacidos vivos. Su forma de presentación clínica es variada, y a pesar de ser una anomalía de origen congénito, no es exclusiva de las edades pediátricas. Existen niños que padecen la variedad adulta del síndrome, sujetos enmarcados bajo la fachada clínica de otras entidades nosológicas, o, incluso, que cursan de manera silente, por lo que constituye un grave problema de salud. Su tratamiento es quirúrgico, con supervivencia y pronóstico apropiados si se diagnostica en etapa precoz.

Bland-White-Garland syndrome is a rare but serious congenital defect since 90% of patients may die in the first year of life if they are not duly treated. From the period prior to the emergence of echocardiography up to the present day, the prevalence described in literature is 1 per 300 000 live births. Its clinical presentation is varied, and in spite of the fact that it is an anomaly of congenital origin, it does not only occur in pediatric ages. There are children suffering the adult variety of the syndrome; others who are masked under the clinical umbrella of other diseases or even children who are asymptomatic, so this syndrome can represent a serious health problem. Surgical treatment is the choice, with adequate prognosis and survival if diagnosis is made at early phase.

Agenesia renal unilateral e criptorquidismo ipsilateral em um felino: relato de caso / Unilateral renal agenesis and ipsilateral cryptorchidism in a cat: case report

A agenesia renal é uma afecção congênita rara na espécie felina, frequentemente associada a uma malformação reprodutiva. O presente trabalho relata o caso de um felino com agenesia renal unilateral associada a criptorquidismo ipsilateral, com ênfase no diagnóstico, tratamento e acompanhamento. O paciente foi conduzido ao Hospital de Clínicas Veterinárias da Universidade Federal do Rio Grande do Sul para avaliação de criptorquidismo. A agenesia renal foi um achado durante a ecografia abdominal do felino. Durante a laparotomia, foi confirmada a ausência do rim e ureter direito, hipertrofia do rim esquerdo e presença de um testículo ectópico. O paciente teve alta após a recuperação anestésica e se mantém clinicamente estável, transcorridos seis meses da cirurgia. A agenesia renal unilateral é uma condição compatível com a vida, contanto que o rim existente apresente funcionamento aceitável. Assim, sugere-se que a possibilidade de rim único em felinos criptorquidas deve ser investigada sempre que possível, tendo em vista a alta correlação entre essas malformações, e objetivando um acompanhamento da função renal do paciente ao longo da vida.(AU)

Renal agenesis is a rare disorder in feline species, commonly associated with reproductive malformation. This study aims to report the case of a cat with unilateral renal agenesis combined with ipsilateral cryptorchidism, emphasizing the diagnosis, treatment and patient follow up. The patient was taken to the Veterinary Hospital of the Federal University of Rio Grande do Sul to evaluate the cryptorchidism. The renal agenesis was an incidental finding during the abdominal ultrasound. At laparotomy, the absence of the right kidney and ureter was confirmed, hypertrophy of the left kidney and the presence of an ectopic testicle were found. The patient was discharged after recovering from anesthesia and remains clinically stable six months after surgery. The unilateral renal agenesis is a life compatible condition as long as the existing kidney has an acceptable performance. Therefore, it is suggested that the chance of a single kidney in cats whit cryptorchidism should be investigated, given the correlation between these malformations, and aiming to monitor renal function throughout the life of the patient.(AU)

Agenesia renal unilateral e criptorquidismo ipsilateral em um felino: relato de caso / Unilateral renal agenesis and ipsilateral cryptorchidism in a cat: case report

A agenesia renal é uma afecção congênita rara na espécie felina, frequentemente associada a uma malformação reprodutiva. O presente trabalho relata o caso de um felino com agenesia renal unilateral associada a criptorquidismo ipsilateral, com ênfase no diagnóstico, tratamento e acompanhamento. O paciente foi conduzido ao Hospital de Clínicas Veterinárias da Universidade Federal do Rio Grande do Sul para avaliação de criptorquidismo. A agenesia renal foi um achado durante a ecografia abdominal do felino. Durante a laparotomia, foi confirmada a ausência do rim e ureter direito, hipertrofia do rim esquerdo e presença de um testículo ectópico. O paciente teve alta após a recuperação anestésica e se mantém clinicamente estável, transcorridos seis meses da cirurgia. A agenesia renal unilateral é uma condição compatível com a vida, contanto que o rim existente apresente funcionamento aceitável. Assim, sugere-se que a possibilidade de rim único em felinos criptorquidas deve ser investigada sempre que possível, tendo em vista a alta correlação entre essas malformações, e objetivando um acompanhamento da função renal do paciente ao longo da vida.(AU)

Renal agenesis is a rare disorder in feline species, commonly associated with reproductive malformation. This study aims to report the case of a cat with unilateral renal agenesis combined with ipsilateral cryptorchidism, emphasizing the diagnosis, treatment and patient follow up. The patient was taken to the Veterinary Hospital of the Federal University of Rio Grande do Sul to evaluate the cryptorchidism. The renal agenesis was an incidental finding during the abdominal ultrasound. At laparotomy, the absence of the right kidney and ureter was confirmed, hypertrophy of the left kidney and the presence of an ectopic testicle were found. The patient was discharged after recovering from anesthesia and remains clinically stable six months after surgery. The unilateral renal agenesis is a life compatible condition as long as the existing kidney has an acceptable performance. Therefore, it is suggested that the chance of a single kidney in cats whit cryptorchidism should be investigated, given the correlation between these malformations, and aiming to monitor renal function throughout the life of the patient.(AU)

Avaliação do valor de corte de TSH em amostras de filtro na triagem neonatal para diagnóstico de hipotireoidismo congênito no Programa "Primeiros Passos" - IEDE/RJ / Evaluation of TSH cutoff value in blood-spot samples in neonatal screening for the diagnosis of congenital hypothyroidism in the Programa "Primeiros Passos" - IEDE/RJ

OBJETIVO: Analisar casos de hipotireoidismo congênito (HC) confirmados ou não, triados pelo Programa "Primeiros Passos", estratificando-os em faixas de TSH em filtro (TSH-F). MATERIAIS E MÉTODOS: Estratificar, em faixas de TSH-F em função do TSH em soro (TSH-S), os casos convocados para teste confirmatório de janeiro/2006 a julho/2009. RESULTADOS: Cerca de 37% dos casos confirmados (475) apresentaram TSH-F > 9,5 mUi/L, mas a maioria dos casos confirmados estava nas faixas de TSH-F mais baixas. Entre os casos não confirmados (4.613), a maior parte se encontrava nas faixas mais baixas. Não houve faixa de TSH-F exclusiva dos casos não confirmados. CONCLUSÃO: O valor de corte do TSH-F utilizado é fundamental no diagnóstico do HC e deve ser baixo, mesmo que sejam realizados mais testes confirmatórios. Mais estudos são necessários para determinar o melhor valor de corte de TSH-F para triagem neonatal.

OBJECTIVE: To analyze the confirmed or not-confirmed cases of neonatal screening (CH) screened in the Programa "Primeiros Passos", stratifying them into TSH blood-spot (TSH-BS) ranges. MATERIALS AND METHODS: To stratify, in ranges of TSH-BS as a function of TSH serum (TSH-S), the cases called for a confirmatory test from January, 2006 to July, 2009. RESULTS: Around 37% of the confirmed cases (475) showed TSH-F > 9.5 mUi/L, but most of the confirmed cases were in lower TSH-F ranges. Among the unconfirmed cases (4,613), most were found in the lower ranges. There was no TSH-F range exclusive to unconfirmed cases. CONCLUSION: TSH-BS cutoff value used is crucial in the diagnosis of CH and should be low, even if more confirmatory tests are performed. More studies are needed to determine the best cutoff value of TSH-BS for neonatal screening.