ABSTRACT
[This corrects the article DOI: 10.3389/fped.2022.936732.].
ABSTRACT
DYRK1A syndrome has been extensively studied primarily with regard to neurologic and other phenotypic features such as skeleton and craniofacial alterations. In the present paper, we aim to highlight unusual anomalies associated with a DYRK1A mutation: a 17-year-old female patient with language and cognitive delay, microcephaly, and an autistic disorder, who was operated upon for spleen torsion with anomalous gut fixation.
ABSTRACT
The present report describes the findings at chest computed tomography angiography of a 28-year-old female patient with heterotaxy syndrome. This syndrome consists of a variety of anomalies of position and morphology of thoracoabdominal organs which do not follow the situs solitus or situs inversus arrangement. Imaging studies play a fundamental role in the individualization of the approach to the patient.
Neste trabalho são apresentados os achados na angiotomografia computadorizada do tórax de uma paciente de 28 anos com síndrome de heterotaxia. Esta consiste em diversas anormalidades de posicionamento e morfologia de órgãos toracoabdominais, que não se enquadram no situs solitus ou situs inversus. Os exames de imagem são fundamentais na individualização da abordagem do paciente.
ABSTRACT
A 36 year-old man after tests for assessing male infertility was diagnosed with primary infertility, bilateral cryptorchidism, nonobstructive azoospermia and discontinuous splenogonadal fusion. Carcinoma in situ was found in his left testicle, which was intraabdominal and associated with splenogonadal fusion. To our knowledge, this is the fourth case of splenogonadal fusion associated with testicular cancer reported. One should always bear in mind the possibility of this association for the left cryptorchid testicle.
Um homem de 36 anos, depois de ser submetido a exames para avaliação de infertilidade masculina, foi diagnosticado com infertilidade masculina primária, criptorquidia bilateral, azoospermia não obstrutiva e fusão esplenogonadal descontínua. Carcinoma in situ estava presente no testículo esquerdo, que tinha localização intra-abdominal e estava associado à fusão esplenogonadal. Esse é o quarto caso de fusão esplenogonadal associada a câncer testicular, segundo nossa avaliação. Deve-se sempre ter em mente a possibilidade dessa associação em testículos criptorquídicos à esquerda.
Subject(s)
Humans , Male , Adult , Carcinoma in Situ/diagnosis , Cryptorchidism/etiology , Spleen/abnormalities , Testicular Neoplasms/diagnosis , Testis/abnormalities , Atrophy , Azoospermia/etiology , Calcinosis/etiology , Carcinoma in Situ/etiology , Carcinoma in Situ/pathology , Cryptorchidism/embryology , Cryptorchidism/surgery , Disease Susceptibility , Incidental Findings , Magnetic Resonance Imaging , Orchiectomy , Orchiopexy , Spleen/embryology , Testicular Diseases/etiology , Testicular Neoplasms/etiology , Testicular Neoplasms/pathology , Testis/embryologyABSTRACT
Spleno-gonadal fusion is a rare malformation consisting of an abnormal connection between the spleen and the gonad. Spleno-gonadal fusion has been classified into two types: continuous and discontinuous. The majority of the cases present as a scrotal mass, scrotal tenderness and for suspicion of testicular pathology. Some are incidental findings at the time of herniotomy or orchiodopexy. About 25% of the reported cases of continuous spleno-gonadal fusion have associated anomalies. None of these anomalies has been reported in the discontinuous spleno-gonadal fusion. An incidental case of discontinuous spleno-gonadal fusion in a three year old boy after a patent processus vaginalis ligation procedure is reported.
ABSTRACT
The usual imaging findings of common splenic infarction are well known, while the findings for splenic infarctions in the accessory spleen or polysplenia are rare; these unusual imaging findings may make the diagnosis difficult. We report here on two patients who have complained of abdominal pain, and they were diagnosed as splenic infarction that developed in either the accessory spleen or as has having polysplenia. We can diagnose splenic infarction that unusually develops in the accessory spleen or polysplenia when we identify a round, hyperechoic, avascular solid mass on US, or when we identify a round, rim-enhancing, hypodense solid mass with adjacent inflammatory changes and a small amount of ascites on CT that is adjacent to the normal spleen or in one of splenules of polysplenia in the clinical settings of acute abdominal pain.
Subject(s)
Child , Humans , Abdominal Pain , Ascites , Diagnosis , Infarction , Spleen , Splenic InfarctionABSTRACT
Torsion of the accessory spleen is a rare entity that can have variable clinical presentations. We report case involving an 11-year-old boy with severe abdominal pain and a mass that was found to be due to infarction of the accessory spleen, which was twisted on its pedicle. CT revealed a low-attenuating mass with peripheral inflammatory changes in the left upper abdomen. The mass was pathologically confirmed as torsion of the ac-cessory spleen with infarction.
