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)

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)

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.

Clinical characteristic and management of Peters anomaly / 中华实验眼科杂志

Background Peters anomaly is a rare eye disease.Understanding the clinical features of Peters anomaly is helpful for us to correctly manage this disease.Objective This study was to investigate the clinical characteristics and treatment methods of Peters anomaly and provide available basis for the diagnosis and individualized treatment of Peters abnormal.Methods A descriptive study was performed.The clinical data from 8 eyes of 4 patients with Peters anomaly who were diagnosed and treated in Beijing Children's Hospital from January 1,2014 to March 30,2016 were retrospectively analyzed.The clinical manifestations of the anterior ocular segment were examined by handheld slit-lamp microscope,and corneal curvature,corneal thickness,axial length and intraocular pressure were measured.The therapy and outcomes of the patients were evaluated.Results Peters anomaly was classified into type Ⅰ,type Ⅱ and Peters plus syndrome based on the findings and literature'criteria.Regarding to the clinical findings,the adhesion of peripheral angle with cornea,shallow or disappeared anterior chamber were found in all the eyes,and these manifestations were type Ⅰ Peters anomaly and occurred in 2 eyes of 2 patients.The opacity and adhesion of the central lens capsula to corneal endothelium was seen in 6 eyes which belonged to type Ⅱ Peters anomaly.The mean corneal thickness was (680± 127) μm in 4 measured eyes,which was thicker than normal eyes;the mean corneal curvature was (37.40±1.79)D in 4 measured eyes;the mean axial length was (21.06±0.19)mm and the mean diameter of cornea was (9.4 ± 0.5) mm in 4 measured eyes.Iridocoloboma was found in 4 eyes and congenital aniridia was in 4 eyes.In addition,esotropia appeared in 1 patient,and nystagmus occurred in 3 patients.The 3 patients of type Ⅱ in this study were found to have the disorders associated with systemic neurogenic developmental abnormalities and diagnosed as Peters plus syndrome.Trabeculectomy with anterior vitrectomy was performed in 2 eyes with the intraocular pressure ＞30 mmHg(1 mmHg =0.133k Pa) and the introcular pressure reduced to below 21 mmHg after operation.Penetrating corneal transplantation was carried out on 1 eye with central opacity.However,rejection of graft occurred at 1 month and became complete cloudy at 3 months after surgery.Cataract extraction surgery was performed on 4 eyes with lens opacity and intraocular lens were implanted in 2 eyes or iridectomy was carried out in another 2 eyes,and the visual quality was evidently improved after operation.Conclusions The clinical characteristics of Peters anomaly include leukoma,shallow anterior chamber,peripheral iris adhesion with cornea and lens opacity due to adhesion of lens anterior capsule to corneal endothelium.Personalized operative regimen should be determined based on the clinical findings of the eyes with Peters anomaly.

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.

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)

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.

Re-application of External Fixators for Complications of Limb Lengthening and Deformity Correction / 中国矫形外科杂志

Objective: To treat limb length discrepancy or deformity using external fixation,and Correct potential complications. The authors present their figures for reapplication of external fixator frames in the same bone segment following complications during or after the treatment phase. Methods: Two hundred and sixty-one patients (297 limbs) underwent this type of treatment in our unit between Feb. 1991 and July 1999 with either Orthofix or Ilizarov fixators.228 in children and 69 limb segments in adults. Results: Reapplication of 22 fixators in children (9.65%), and 4 fixators in adults (5.8%) was performed. This gives an overall reapplication rate of 8.75%. The reason for reapplication was fracture and / or deformity of the regenerate (15 segments). Four patients eventually came to amputation. Conclusion: The authors recommended the continue use of this technique for the treatment of severe deformity particularly in congenital disorders.