Giant bilateral axillary artery aneurysms with left complete obstructive thrombus in intravenous immunoglobulin-sensitive Kawasaki disease: a case report

Background Kawasaki disease (KD) is a systemic vasculitis that predominantly affects medium-sized arteries. In addition to well-known coronary artery aneurysms (CAAs), peripheral systemic artery aneurysms (SAAs) have also been sporadically reported. In the literatures, SAAs occurred mainly in untreated, intravenous immunoglobin (IVIG)-resistant, or severe refractory KD, and thrombotic events in SAAs were rarely reported. Case presentation A 10-month-old boy with a history of KD was referred to our hospital for suspected pseudoaneurysm of the axillary arteries. Four months prior to presentation, he had persistent fever, conjunctival congestion, and rash. On the 10th day of fever echocardiogram showed biliteral CAAs. He was then diagnosed with KD and given IVIG 2 g/kg and aspirin at a local hospital. His fever and symptoms soon subsided and he was discharged with low dose aspirin and dipyridamole. One month prior to presentation, his parents incidentally palpated swellings in his bilateral axillae. On admission, physical examination revealed a pulsatile swelling in his right axilla and a non-pulsatile swelling in the left with impalpable left brachial and radial pulses, cooler and less active left upper limb than the right one. While the pulses of other three limbs were normal. Ultrasound examination revealed giant bilateral axillary artery aneurysms (AAAs) with massive thrombus in the left. Angiography confirmed giant bilateral AAAs with left AAAs completely occluded and fine collateral vessels connecting to the distal brachial artery, in addition to giant bilateral multiple CAAs without stenoses. The patient was given intravenous prostaglandin for 10 days to allow for formation of collateral circulation, as well as aspirin, low molecular weight heparin (which was switched to warfarin before discharge) and metoprolol. At discharge, the temperature and movement of his left upper limb improved significantly. On follow-up at 7 months, his left upper limb further improved and was similar to the right with no occurrence of cardiovascular events. The images of CAAs and AAAs on echocardiogram and computerized tomography remained the same. Conclusions This case highlights the importance of evaluating peripheral SAAs in KD patients with CAAs, even if their course of treatment appears smooth. For both large non-aortic SAAs and CAAs in KD patients, antithrombotic therapy is of utmost importance.

Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report

Background Uniparental disomy (UPD) is defined as an inheritance of two chromosomes from only one of the parents with no representative copy from the other. Paternal-origin UPD of chromosome 3 is a very rare condition, with only five cases of paternal UPD(3) reported. Case presentation Here, we report a prenatal case that is only the second confirmed paternal UPD(3) reported with no apparent disease phenotype. The fetus had a normal karyotype and normal ultrasound features throughout gestation. Copy neutral regions of homozygosity on chromosome 3 were identified by single nucleotide polymorphism (SNP) array. Subsequent SNP array data of parent–child trios showed that the fetus carried complete paternal uniparental isodisomy (isoUPD) of chromosome 3. The parents decided to continue with the pregnancy after genetic counseling, and the neonate had normal physical findings at birth and showed normal development after 1.5 years. Conclusions These findings provided further evidence to confirm that there were no important imprinted genes on paternal chromosome 3 that caused serious diseases and a reference for the prenatal diagnosis and genetic counseling of UPD(3) in the future.

A curious case of toddler with hernia and much more

Transverse testicular ectopia (TTE) with fused vas deferens is an extremely rare clinical entity. Herein, we presented a case of a 2 years old patient with left inguino-scrotal swelling associated with pain lasting for 3 days. Clinical examination revealed an empty right hemi-scrotum, a left-sided giant inguino-scrotal swelling. Laboratory tests were normal. Ultrasound imaging (US) of the scrotum demonstrated the presence of both testes in the same left hemi-scrotum with inguinal hernia and enterocele as content. Surgical intervention in suspicion of obstruction was carried out through inguinal incision. There was a congenital inguinal hernia with appendix (type 1-Amyand’s hernia) and cecum as content with two well developed testes on the same side with separate epididymis and vas deferens. Both the testes were united by a mesorchium. Hence, reduction of contents with herniotomy and both the testes were anchored to inner aspect of left thigh one above the other. We reviewed the literature for rare diagnosis of TTE.

Prenatal Diagnosis of Complete Paternal Uniparental Isodisomy for Chromosome 3: A Case Report

Background Paternal uniparental disomy (UPD) of chromosome 3 is a very rare condition. At present, only 5 cases of paternal UPD(3) has been reported. This was the second ascertained paternal UPD(3) with no apparent disease phenotype.Case presentation We hereby reported a case of a fetus with normal karyotype and normal ultrasound features at the whole gestation. A copy neutral regions of homozygosity on chromosome 3 was indentified by Single Nucleotide Polymophism array (SNP array). Subsequent SNP array data of parent–child trios showed the fetus has carried complete paternal uniparental isodisomy (isoUPD) of chromosome 3. The parents decided to continue the pregnancy after genetic counseling. The neonate had normal physical findings at birth and develops normally after 1.5 years. Conclusions The findings could provide further evidence to confirm that there was no important imprinted genes causing serious diseases on paternal chromosome 3 and provided a reference for the prenatal diagnosis and genetic counseling of UPD(3) in the future.

Imaging of Subcutaneous Ovarian Transposition and Its Rare Complications—A Pictorial Assay

Ovarian transposition, as the name implies, is transpositioning the ovary from its normal anatomical position to another location. This procedure is usually done to preserve the ovarian function. The most common indication of ovarian transposition is early cervical cancer in young premenopausal women to preserve fertility. Subcutaneous ovarian transposition can also be done for benign conditions such as adenomyosis and severe endometriosis in young premenopausal women. We discuss our experience with ovarian transposition in 9 cases, normal ultrasound and CT imaging findings in transposed ovaries, and rare complications which occurred in 2 cases.

Isolated hepatosplenic tuberculosis: a rare presentation with persistent fever in a 2-year-old female child

A 2-year-old female child from South India presented with persistent fever for 3 weeks, pallor and hepatosplenomegaly. There was no history of contact with tuberculosis (TB) and BCG scar was absent. Tests for TB (Mantoux and gastric aspirate) were negative. Blood and bone marrow tests for other infections, inflammation and infiltration were inconclusive. Chest X-ray was normal. Ultrasound study (USS) of abdomen showed multiple microabscesses in the liver and spleen. USS-guided fine needle aspiration cytology from splenic lesion demonstrated epithelioid granuloma while bacteriology was negative. Commencement of anti-tubercular therapy (ATT) resulted in remarkable clinical improvement in a week with resolution of lesions on follow-up USS in 2 months. Isolated hepatosplenic TB in children, though rare, has a wide, non-specific clinical spectrum and potential of delaying diagnosis. Probability diagnosis and therapeutic trials of ATT are accepted approaches, using treatment response as indirect confirmation of the likely cause.

PCR vs karyotype for CVS and amniocentesis—the experience at one tertiary fetal medicine unit

Purpose Despite the rise of non-invasive screening tests for fetal aneuploidy, invasive testing during pregnancy remains the definitive diagnostic tool for fetal genetic anomalies. Results are rapidly available with polymerase chain reaction (PCR) tests, but cases have been reported whereby initial results were not confirmed after pregnancy termination and the fetal karyotype was ultimately normal. We sought to examine the potential discordance between PCR and karyotype for fetal aneuploidy. Methods The results from all amniocentesis and CVS tests performed over a 6-year period in a large tertiary level fetal medicine unit were reviewed. The results of PCR and karyotype were recorded and discrepancies examined. Pregnancy outcomes were also recorded. Results A total of 1222 invasive tests were performed (716 amniocentesis and 506 CVS). Within the cohort having amniocentesis, 11 had discrepant results (normal QF-PCR result but with a subsequent abnormal karyotype). There was 1 case among this group which QF-PCR should have identified. Within the CVS group, 7 patients had discrepant results. All had a diploid QF-PCR and would not have been identified as abnormal by it. Conclusion PCR can be reliably used to determine aneuploidy of chromosomes 13, 18, and 21. However, in cases of sex chromosome aneuploidy, its performance is less reliable and warrants waiting for a complete karyotype. Given such discordance, we advise waiting for karyotype for all invasive tests performed in the presence of a normal ultrasound before advising a patient of a diploid QF-PCR result or potentially terminating a normal pregnancy.