No abstract

Patients with spondylocostal dysostosis (SCD) have vertebral abnormalities and numerical or structural rib anomalies that produce thoracic asymmetry. Rib anomalies and dysmorphism are the typical features that differentiate this syndrome from spondylothoracic dysostosis (STD). Jarcho-Levin syndrome is a severe form with involvement of the whole vertebral column. Other associated findings such as congenital heart defects, abdominal wall malformations, genitourinary malformations and upper limb anomalies may be found; in addition, neural tube defects (NTDs) have been associated with this malformation. SCD is transmitted both in a recessive form and as a dominant defect. We report on 3 children with SCD; 2 also had NTDs. All of them were studied with X-rays and spinal magnetic resonance (MR), and over the same period they underwent multidisciplinary clinical functional evaluation. One of our cases with NTD also presented polythelia, which has not previously been described in patients with SCD. The common association of segmental costovertebral malformations with NTDs could be related to an early gastrulation genomic defect, or one after gastrulation, when there are two independent somitic columns. The latter sometimes progresses and then involves primary and secondary neurulation. Also, the association of SCD with NTDs could be related to the interaction of different genes, resulting in this complex phenotype. Therefore, additional genetical and embryological studies are necessary to provide evidence of an etiological link between SCD and NTD.

Thoracic ectopic kidney with partial or complete renal protrusion above the level of the diaphragma into the posterior mediastinum is the rarest form of all ectopic kidneys with an incidence of less than 1 per 10,000 cases. We present a newborn with right congenital diaphragmatic hernia associated with thoracic ectopic kidney. The diagnosis of ectopia was made prior to surgery. Gerota's fascia of kidney was used to close the diaphragmatic defect. Since this renal anomaly is usually asymptomatic, it does not require any specific treatment. However, a close examination of function and anatomy of the kidney prior to surgery of hernia is important and beneficial. We discuss the embryological context and the importance of renal scintigraphy in patients with ectopic kidney.

Intrapleural streptokinase is an effective and safe adjunct in facilitating drainage in early and late stage II empyemas. A tendency of decreased rate of drainage besides persisting fever and respiratory symptoms, despite fibrinolytic treatment may be a clue for early surgical intervention.

The overall experience shows that laparoscopic repair is a reliable approach regardless of the chosen technique. Percutaneous repair seems to be a less invasive method with shorter operative time, but it is not free of complications according to this series.

Tuberculosis is a major worldwide problem, and protection from it is achieved mainly by live attenuated bacille Calmette-Guérin vaccine, which is capable of causing disease in immunocompromised host. Oral thrush is abnormal in healthy children, which suggests an underlying immunodeficiency. Mendelian susceptibility to mycobacterial disease is a rare primary immunodeficiency characterized by a selective predisposition to weakly virulent and and also predisposition to chronic mucocutaneous candidiasis. Interleukin 12 receptor β1 (IL-12Rβ1) deficiency is the most common disease of Mendelian susceptibility to mycobacterial disease, and to date only 50 IL-12Rβ1 deficient patients with clinical signs of chronic mucocutaneous candidiasis have been reported. We report a 2.5-year-old daughter of consanguineous parents with both regional bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis carrying biallelic R175W mutation in the gene, resulting in complete loss of expression of IL-12Rβ1. To our knowledge, this is the first report of bacille Calmette-Guérin lymphadenitis with concurrent oral candidiasis displaying such a mutation. New mutations and wide clinical diversities are the indisputable fact of populations with a high rate of consanguineous marriages.

Inguinal masses in young girls must be carefully evaluated, because the sonographic preoperative diagnosis may be misleading.

We present our experience with the transinguinal diagnostic laparoscopy and discuss its efficacy in evaluating the contralateral side in unilateral inguinal hernias. The possible influence of the initial side of hernia, age and gender on recognized bilateralism were also evaluated in two study groups (diagnostic laparoscopy vs clinical diagnosis). In this retrospective study, we evaluated 36 bilateral, 158 left-sided and 303 right-sided consecutive inguinal hernia cases. A total of 211 out of 461 unilateral cases underwent hernia repair and transinguinal laparoscopic evaluation of the contralateral side. Complications and difficulties of the technique, the mean duration of laparoscopy and operative times were additionally analyzed from operation charts. In this study, bilateralism was determined by transinguinal laparoscopy in Group 1 (children with a contralateral patent processus vaginalis) and clinically in Group 2 those who had a metachronous hernia. The patients were also analyzed according to the side of the inguinal hernia, age and gender in both groups. We found an overall positive contralateral patency in 41 cases (19.4%). We failed to perform a successful diagnostic laparoscopy in six cases (2.7%). No anesthetic or surgical complications were noted. Transinguinal laparoscopy did not add any considerable time to the mean operation time. The incidence of bilateralism in Group 1 was higher in girls than boys. Clinically detected bilateralism was significantly higher in 0-6 month age group and contralateral patency detected via laparoscopy was high in all other age groups. We may conclude that transinguinal diagnostic laparoscopy is a feasible technique in children. We advocate its use as a tool with minimal complication risk even in the hands of novice.