Severe haemoptysis in a 5 year old child with Kartagener's syndrome: case report

Kartagener`s syndrome, a rare autosomal recessive disorder is a type of Primary Ciliary Dyskinesia (PCD) associated situs inversus, bronchiectasis, sinusitis and male infertility. We present a case of a 5-year-old girl who came with features of bilateral glue ear, recurrent sinusitis, recurrent hemoptysis and dextrocardia. She was diagnosed to have Kartagener`s syndrome and was evaluated for recurrent hemoptysis.

Síndrome de Klippel-Feil: a propósito de un caso en Ecuador / Klippel-Feil syndrome: about a case in Ecuador

El síndrome de Klippel-Feil (KFS) es un grupo heterogéneo de malformaciones a nivel vertebral que presentan un componente genético monogénico; se caracteriza por presentar un defecto en la formación o segmentación de las vértebras cervicales, que da como resultado una apariencia fusionada. La tríada clínica consiste en un cuello corto, una línea de implantación baja del cabello y un movimiento limitado del cuello. Presentamos el caso de un paciente masculino de 17 años que manifiesta los hallazgos clínicos y radiológicos de esta anomalía. (AU)

Klippel-Feil syndrome (KFS) is a heterogeneous group of vertebral malformations that presents a monogenic genetic component, characterized by a defect in the formation or segmentation of the cervical vertebrae, which results in a fused appearance. The clinical triad consists of a short neck, a low hairline and a limited movement of the neck. We present the case of a 17 year-old male patient who presented the clinical and radiological findings of this anomaly. (AU)

Percutaneous tracheostomy by Griggs technique: a retrospective analysis.

Background: The scope of percutaneous tracheostomy (PCT) is increasing with experience with successful conduct in conditions traditionally described as contra indications such as difficult anatomy, bleeding diathesis and high ventilatory requirement. The objectives of this study were to assess the safety of PCT in patients with obesity, short neck, thrombocytopenia, coagulopathy, high FiO2 and PEEP requirement. We also aimed to determine complication rate and average time required. Methods: This retrospective study was conducted in the surgical intensive care unit at a tertiary care centre. Seventy five patients who underwent PCT by Griggs technique, with ultrasonographic and bronchoscopic guidance during a period of one year from January to December 2014 were included. Age, sex, height, weight, BMI, platelet count, INR, crico sternal distance and duration of procedure were noted. We analyzed all high risk factors and peri procedural complications. Results: Obesity was present in 5 (6.66%), short neck in 6 (8%), coagulopathy in 25 (33.33%), thrombocytopenia in 22 (29.33%), high FiO2 requirement in 28 (37.33%) and high PEEP requirement in 30 (40%) patients. Minor complications were present in 11 patients (14.66%). No life threatening complications were noted. One patient required conversion into open tracheostomy. The average time taken for PCT was 4.87 ± 1.1 min. Conclusion: PCT can be safely performed in patients with obesity, short neck, thrombocytopenia, coagulopathy and high ventilatory requirement with minimal complication rate, aided by tools like ultrasonography and fiberoptic bronchoscope.

Asociación de paladar fisurado y sindrome de Klippel-Feil / Cleft palate and Klippel-Feil syndrome: a case report

El síndrome de Klippel-Fiel, Distrofia Brevicollis Congénita, Sinostósis Congénito Cervical o Fusión de las Vértebras Cervicales, consiste en la fusión de, al menos, dos de las siete vértebras del cuello. Se caracteriza por la presencia de una tríada clásica compuesta por cuello corto, baja inserción de la línea del cabello y limitación de los movimientos del cuello. Pero además se puede acompañar de una serie de condiciones tales como: escoliosis, tortícolis, deformidad de Sprengel, malformaciones cardiovasculares, renales, auditivas y paladar fisurado entre otros. La aparición del paladar fisurado en pacientes con el síndrome de Klippel-Feil se presenta entre el 5 y el 10 de los casos. Como posibles causas primarias de la falta de fusión del paladar se han reportado las anomalías de la columna cervical superior y alteraciones en la base del cráneo, defectos que impiden la fusión de las dos apófisis horizontales de los maxilares. Con este artículo se reporta el caso de una niña de una niña de 10 años que presenta Síndrome de Klippel-Feil asociado con la deformidad de Sprengel y Paladar fisurado.

Kippel-Feil syndrome is a condition characterized by shortness of the neck resulting from reduction in the number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass. It is characterized by a classic triad: short neck, low hair insertion line and limited neck movements. There are some associated conditions that could be presents like scoliosis, wryneck, Sprengel deformation, cardiovascular, kidney, hearing troubles and fissured palate. Kippel-Feil syndrome had been reported as an important cause of about 5 to 10 of fissured palate because skull basal lesions and spine cervical upper alterations could be the primary troubles for the tow part of the palate bone union. This article presents a case of Klippel-Feil syndrome, Sprengel deformity and clef palate associated in a ten years old girl.