Diagnosis of sirenomelia in the first trimester

Sirenomelia or “mermaid syndrome” is a rare congenital abnormality with an incidence of 1 in 60,000. We report a case diagnosed in the first trimester using two‐dimensional, three‐dimensional, and color Doppler ultrasound. With increasing emphasis on early diagnosis of fetal abnormalities, this case highlights the importance of looking for anomalies in the first trimester itself. In fact, the diagnosis of sirenomelia should be easier in the first trimester as severe oligohydramnios in later gestation hampers vision. © 2013 Wiley Periodicals, Inc. J Clin Ultrasound 42 :355–359, 2014     

First‐trimester prenatal sonographic diagnosis of ectopia cordis in a twin gestation

The 11–14‐week ultrasound examination allows early pregnancy dating, detection of major anomalies and multiple gestations, and accurate chorionicity determination. We describe a rare case of first‐trimester sonographic diagnosis of ectopia cordis in a dichorionic twin pregnancy, illustrating the benefits of early ultrasound in patient counseling and management. © 2009 Wiley Periodicals, Inc. J Clin Ultrasound, 2009     

Second‐trimester prenasal and prefrontal skin thickening—Association with MECP2 triplication syndrome

MECP2 triplication syndrome is a rare and usually lethal genetic disorder characterized by progressive neurologic and cognitive regression. None of the four reported cases describe prenatal sonographic features of affected offspring. We report a second‐trimester fetus with marked prefrontal and prenasal skin thickening, retrognathia, and later, third‐trimester mild cerebral ventriculomegaly. Amniocyte karyotype was normal male, but newborn whole‐genome oligonucleotide microarray showed duplication and triplication of chromosome Xq28 containing the MECP2 gene. Comparative genomic hybridization may be diagnostic in fetuses with prefrontal and prenasal skin thickening, additional sonographic findings, and normal karyotype. © 2013 Wiley Periodicals, Inc. J Clin Ultrasound 41 :434–437, 2013     

Dilated intracranial translucency and blake's pouch cyst: First‐trimester ultrasound markers of occipital cephalocele diagnosed using novel three‐dimensional reslicing technique

Abnormal intracranial translucency (IT) (fourth ventricle) and a Blake's pouch cyst with normal brain stem cavity may be valuable first‐trimester call signs of defects in the skull base. Here, we report a case of presumptive two‐dimensional sonographic diagnosis of occipital cephalocele that was posed at the time of 11–13 weeks aneuploidy scan. The two‐dimensional sonographic finding elicited a detailed fetal neuroscan that was performed using either multiplanar mode or a novel three‐dimensional reslicing and lightening technique. The use of three‐dimensional sonographic software and offline “navigation” within the volume of interest enabled operators to capture a diagnostic snapshot of the condition, enhancing quality imaging and early detection of the encephalic lesion. © 2013 Wiley Periodicals, Inc. J Clin Ultrasound 42 :157–161, 2014     

Stomach arteriovenous malformation resected by laparoscopy‐assisted surgery: A case report

Arteriovenous malformations of the stomach are an uncommon cause of upper GI bleeding. We report a case of stomach arteriovenous malformation in an 85‐year‐old Asian man who presented with massive hematemesis. Initial esophagogastroduodenoscopy did not detect this lesion, but contrast multi‐detector CT confirmed GI bleeding. Multi‐detector CT revealed a mass of blood vessels underlying the submucosa that arose from the right gastroepiploic artery. Repeat esophagogastroduodenoscopy showed that the lesion was a submucosal tumor with erosion and without active bleeding in the lower body of the stomach on the greater curvature. We performed partial gastrectomy via laparoscopy‐assisted surgery. The histopathological diagnosis was arteriovenous malformation.     

Prenatal diagnosis of femoral‐facial syndrome: Case report

Femoral‐facial syndrome (FFS), also known as femoral hypoplasia–unusual facies syndrome, is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial anomalies. This report describes a case of FFS diagnosed after 13 weeks of pregnancy following the detection of severe micrognathia and bilateral shortening of the femur in the fetus of a patient with DM. The sonographic evolution from the first trimester until birth is described. The clinical findings, the differential diagnosis with other pathologies characterized by hypoplasia femoral, and the prognosis are discussed. © 2013 Wiley Periodicals, Inc. J Clin Ultrasound 42 :49–52, 2014     

Successful delivery after vaginal occlusion in addition to cerclage in a trachelectomy patient with recurrent second trimester pregnancy loss: a case report

Pregnancy outcome after trachelectomy has high risk of complications such as second trimester pregnancy loss and preterm birth. We report beneficial effect of a simple procedure of vaginal occlusion in addition to cerclage in a patient with trachelectomy and two prior second trimester pregnancy losses.     

Isolated splenic granuloma: report of a case with an emphasis on ultrasound findings

There is a marked paucity of reports on contrast-enhanced ultrasonography (US) for focal splenic disease in the literature, and there are no previously reported contrast-enhanced US findings for splenic granuloma. We report the case of a 77-year-old cirrhotic woman with isolated splenic granulomas. We detail the diagnostic difficulty encountered in this case and briefly review the literature.     

Inflammatory pseudotumor of the spleen: report of a case with emphasis on contrast-enhanced ultrasound findings

Splenic inflammatory pseudotumor is a rare pathology, and the literature stresses the difficulty of preoperative diagnosis. There are no previous reports of contrast-enhanced ultrasound findings for this tumor in the literature. Our case appears to be the first to be examined using this technique. In our case, contrast-enhanced ultrasound showed the mass to be homogeneously and less enhanced than the surrounding parenchyma in all phases, and it included fine enhanced spots. We also briefly review the literature.     

Cystic lymphangiomatosis with severe intra‐abdominal bleeding in a newborn: Case report

We report the case of a newborn girl with intestinal cystic lymphangiomatosis who presented with abdominal distension and intra‐abdominal bleeding following a prenatal ultrasound diagnosis of intestinal anomaly. Postnatal abdominal ultrasound revealed disseminated submucosal and intramural cystic dilatations of various sizes in the bowel and intestinal lymphangiomatosis was diagnosed. The presence of severe bleeding diathesis and widespread disease led to conservative treatment. The patient died on postnatal day 7 and postmortem examination confirmed cystic lymphangiomatosis. Detection of intestinal hyperechogenicity and/or dilatation in prenatal ultrasonography and the persistence of these findings during pregnancy are suggestive for pathologies such as meconium ileus, meconium peritonitis, and intestinal atresia. Although rare, intestinal lymphangiomatosis should be kept in mind in patients whose prenatal sonographic findings persist until birth. © 2012 Wiley Periodicals, Inc. J Clin Ultrasound, 2013     

Hydroxychloroquine‐induced hyperpigmentation: a case report

The antimalarials are one of the most commonly prescribed drugs in medical practice, for conditions such as rheumatoid arthritis as well as malaria. They are generally well‐tolerated and the possible side effects of synthetic antimalarials, though infrequent, are well known. Besides the familiar adverse reactions, a localized mucocutaneous bluish‐grey to black discolouration can sometimes be seen with antimalarial drugs. The aim of this report was to draw attention to the localized mucocutaneous bluish‐grey hyperpigmentation induced by hydroxychloroquine with a case presentation and a review of the literature.     

Three‐dimensional power Doppler sonography in the diagnosis of a cystic sacrococcygeal teratoma mimicking a meningomyelocele: A case report

Sacrococcygeal teratomas have been diagnosed prenatally on sonograms as masses of cystic, solid, or mixed echogenicity from the sacral area and protruding through the perineum or buttocks. However, a cystic sacrococcygeal teratoma may be misdiagnosed as an anterior sacral meningomyelocele, especially when presenting as a posterior cystic mass. We report a case in which three‐dimensional power Doppler imaging was helpful for making a correct prenatal diagnosis of a type 1 cystic sacrococcygeal teratoma, which mimicked a meningomyelocele. © 2009 Wiley Periodicals, Inc. J Clin Ultrasound, 2009     

肝海绵状血管瘤磁共振与彩色超声诊断对比分析(附58例报告)

目的探讨彩色声超和MRI在肝脏海绵状血管瘤诊断中的价值。方法用彩超和MRI分别对58例肝海绵状血管瘤进行检查,并对两种检查结果进行对比分析。结果58例肝脏海绵状血管瘤彩超表现高回声36例,混合回声14例,等回声和低回声8例。MRI表现SE序列T1WI为低信号或稍低信号T2WI为高信号或较高信号;GRE序列重T2WI均显示为明亮的高信号。MRI增强扫描快速充盈25例,周边呈结节型强化19例,中心扩散型14例,延时扫描为均匀明显强化。结论随着血管瘤直径的增大,彩超显示高回声占的比例逐渐减少,而混合回声和低回声占的比例逐渐增多;MRI增强扫描显示周边呈结节型强化占的比例越来越大,而快速充填型占的比例越来越小。     

The use of ultrasound to facilitate spinal anesthesia in a patient with previous lumbar laminectomy and fusion: A case report

We describe a case of ultrasound (US)‐facilitated spinal anesthesia in a patient with a prior lumbar laminectomy and spinal fusion who presented for total knee arthroplasty. Traditional, landmark‐guided spinal anesthesia had previously failed. Although pre‐procedural US identified a soft‐tissue window at L3/4, a 25G pencilpoint needle encountered resistance. Reassured from US imaging that this was not bone, we used a 22G cutting tip needle successfully. We believe spinal anesthesia would not have been possible in this patient without US, adding to the evidence that US‐facilitated neuraxial anesthesia is useful, particularly in technically difficult, if not ‘impossible,’ cases. © 2009 Wiley Periodicals, Inc. J Clin Ultrasound, 2009