Unilateral testicular torsion in a neonate / Torsão testicular unilateral em neonato

A male neonate born at gestational age of 40 weeks was found to have an enlarged and darkened right hemiscrotum after birth. Left testicle was descended and normal. No clinical signs of distress were evident. A color Doppler ultrasound showed an absence of testicular blood flow, consistent with perinatal testicular torsion. The patient underwent a bilateral scrotal exploration through an inguinal incision and a necrotic right testicle was found. A right orchiectomy and left orchiopexy were performed. Perinatal testicular torsion is a rare but severe condition. A high clinical suspicion is required since most of perinatal testicular torsion are intrauterine and can often be asymptomatic, only with localized findings of the affected testis. The management of perinatal testicular torsion is still controversial; however, the most consensual approach is a prompt testicle exploration with orchiectomy of the necrotic testicle and contralateral orchiopexy

Recém-nascido do sexo masculino com idade gestacional de 40 semanas, com edema e escurecimento cutâneo do hemiescroto direito constatados após o nascimento. O testículo esquerdo era palpável na bolsa escrotal e não apresentava alterações. A ecografia escrotal com Doppler revelou ausência de fluxo vascular no testículo direito, achado compatível com torção testicular perinatal. O doente foi submetido a exploração escrotal bilateral através de abordagem por via inguinal, tendo sido confirmada a necrose do testículo direito. Foi realizada orquidectomia direita e orquidopexia esquerda. A torção testicular perinatal corresponde a uma patologia rara, mas com possíveis consequências graves. O seu diagnóstico requer elevada suspeição clínica, uma vez que a maioria dos casos ocorre no período pré-natal, podendo ser assintomáticos após o nascimento e manifestar-se com alterações localizadas ao testículo afetado. A abordagem da torção testicular perinatal é ainda controversa, sendo mais consensual uma exploração escrotal célere com orquidectomia do testículo necrosado e orquidopexia contralateral

Rare paediatric case of agenesis of the vermiform appendix, ileal duplication and sickle cell disease.

This study reports an exceptional case of a 14-year-old girl with sickle cell disease that was diagnosed with agenesis of the vermiform appendix and ileal duplication. Both consist of extremely rare gastrointestinal malformations whose association has never been described. The preadolescent girl presented with abdominal pain and vomiting, and the ultrasound was suggestive of acute appendicitis. Surgical findings were agenesis of the vermiform appendix and a T-shaped ileal malformation with inflammatory changes. The patient underwent resection and ileal end-to-end anastomosis. Histopathological evaluation identified an ileal duplication, with small bowel and colonic mucosa, no communication to the adjacent ileum and ischaemic changes. At 8-month follow-up, the patient was asymptomatic.

Congenital Shunts of the Portal Venous System: Case-series of Uncommon Shunts.

BACKGROUND AND AIMS: Congenital shunts of the portal venous system are rare entities that can present in children with clinical heterogeneity. To evaluate the clinical course of children with uncommon shunts presenting to our institution and examine the available literature on this topic. Medical records of children with rare forms of congenital shunts were retrospectively reviewed for demographics, symptoms, management, and outcome between 2003 and 2016. RESULTS: Three female patients with congenital shunts, including a congenital mesenterico-portal Rex shunt (n = 1) and congenital portosystemic shunts (CPSS) (n = 2), were referred for surgical evaluation between ages 4 and 9. Median follow-up was 8 years (range, 6-13 years). One asymptomatic patient did not require treatment and remained disease-free during long-term follow-up. The other 2 patients with CPSS and unusual symptoms, including liver focal nodular hyperplasia (FNH) in infancy (n = 1) and bleeding from esophageal varices (n = 1), showed subsequent progression to liver nodules that were managed by endovascular shunt occlusion. One patient showed symptom resolution and the other showed stable lesions at last follow-up. Literature yielded descriptions of two cases of congenital mesenterico-portal Rex shunt, one case of coincident CPSS and FNH in infancy, but zero reports of bleeding from esophageal varices. CONCLUSIONS: This case series examines each distinct patient's presentation, discusses the diagnosis, management and outcome and compares findings while discussing literature on this topic. A high index of suspicion and familiarity with unusual forms and treatment options is required to allow timely diagnosis and appropriate treatment.