Renal Autotransplantation in a Patient with Bilateral Renal Artery Stenosis Secondary to Takayasu Arteritis.

Involvement of the renal artery is common in Takayasu arteritis. We, herein, present on a patient with Takayasu arteritis causing severe renal failure and a successful auto-transplantation. This case shows that early diagnosis and immediate appropriate interventions are life-saving in patients with Takayasu arteritis. Renal auto-transplantation performed in selected cases increases dialysis-free survival.

Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis.

Primary hyperoxaluria type 1 is a rare autosomal-recessive disease caused by the deficient activity of the liver specific enzyme alanine-glyoxylate aminotransferase. Increased endogenous oxalate production induces severe hyperoxaluria, recurrent urolithiasis, progressive nephrocalcinosis and renal failure. Here we report a 6 month old boy who presented with vomiting and decreased urine volume. He was diagnosed with chronic kidney failure at 4 months of age and peritoneal dialysis was introduced at a local hospital. His parents were third degree cousins and family history revealed 2 maternal cousins who developed end stage renal disease during childhood. When he was admitted to our hospital, laboratory studies were consistent with end stage renal disease, ultrasound showed bilateral massive nephrocalcinosis. As clinical presentation was suggestive for primary hyperoxaluria type 1, plasma oxalate was determined and found extremely elevated. Genetic testing proved diagnosis by showing a disease causing homozygous mutation (AGXT-gene: c.971_972delT). The patient was put on pyridoxine treatment and aggressive dialysis programme. In conclusion; progressive renal failure in infancy with massive nephrocalcinosis, especially if accompanied by consanguinity and family history, should always raise the suspicion of PH type 1. Increased awareness of the disease would help physicians in both treating the patients and guiding the families who have diseased children and plan to have further pregnancies.

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

Homozygous mutations in the fibroblast growth factor 3 (FGF3) gene have recently been discovered in an autosomal recessive form of syndromic deafness characterized by complete labyrinthine aplasia (Michel aplasia), microtia, and microdontia (OMIM 610706 - LAMM). In order to better characterize the phenotypic spectrum associated with FGF3 mutations, we sequenced the FGF3 gene in 10 unrelated families in which probands had congenital deafness associated with various inner ear anomalies, including Michel aplasia, with or without tooth or external ear anomalies. FGF3 sequence changes were not found in eight unrelated probands with isolated inner ear anomalies or with a cochlear malformation along with auricle and tooth anomalies. We identified two new homozygous FGF3 mutations, p.Leu6Pro (c.17T>C) and p. Ile85MetfsX15 (c.254delT), in four subjects from two unrelated families with LAMM. The p.Leu6Pro mutation occurred within the signal site of FGF3 and is predicted to impair its secretion. The c.254delT mutation results in truncation of FGF3. Both mutations completely co-segregated with the phenotype, and heterozygotes did not have any of the phenotypic findings of LAMM. Some affected children had large skin tags on the upper side of the auricles, which is a distinctive clinical component of the syndrome. Enlarged collateral emissary veins associated with stenosis of the jugular foramen were noted on computerized tomographies of most affected subjects with FGF3 mutations. However, similar venous anomalies were also detected in persons with non-syndromic Michel aplasia, suggesting that a direct causative role of impaired FGF3 signaling is unlikely.

The "nutcracker phenomenon" with orthostatic proteinuria: case reports.

The nutcracker phenomenon refers to compression of the left renal vein between the aorta and the superior mesenteric artery. Clinical features are hematuria, abdominal pain, left flank pain, pelvic or scrotal discomfort due to varicocele or ovarian vein syndrome. In this report, 2 patients with orthostatic proteinuria, in whom nutcracker phenomenon was detected as a cause, are presented. One of them had posterior nutcracker with also asymptomatic varicocele that was detected during ultrasonographic examination. Nutcracker phenomenon is a rare but important clinical condition that should be considered in the differential diagnosis of patients with proteinuria and hematuria.

Low back pain as the initial symptom of inferior vena cava agenesis.

Inferior vena cava (IVC) agenesis is a rare anomaly that is usually an incidental finding in radiologic work-up or it can rarely be symptomatic due to deep venous thrombosis of iliac veins. In this report, we present a case of IVC agenesis detected on lumbar spinal MR imaging scans by extensive epidural-paravertebral collateral vessels compressing the thecal sac and causing low back pain in a child.

Pulmonary tuberculosis with multifocal skeletal involvement.

Skeletal tuberculosis accounts for 1-5% of all tuberculosis infections. Of these infections, 50% involve the vertebral column and only 0-5% involve ribs. Rib tuberculosis is seen in only 0.1% of all tuberculosis infections. Skeletal tuberculosis is localised to a single site in 90-95% of reported cases. Multifocal involvement is uncommon and is usually associated with disseminated disease. We present a case of pulmonary tuberculosis associated with multifocal skeletal involvement.

Hypertrophic osteoarthropathy in a child with biliary atresia.

Hypertrophic osteoarthropathy is a syndrome characterized by clubbing of the digits of the hand/foot, periosteal reaction and arthralgia or arthritis which is usually secondary to cyanotic congenital heart disease and chronic pulmonary infections. This syndrome rarely occurs in association with chronic liver disease in childhood. Here, we report on a child with biliary atresia who developed arthralgia and arthritis during follow-up and which was diagnosed as hepatic hypertrophic osteoarthropathy. It is emphasized that hypertrophic osteoarthropathy should be considered in the differential diagnosis of arthralgia and arthritis in children with long-standing chronic liver diseases, especially if finger clubbing is also present.

Pulmonary involvement in childhood-onset systemic lupus erythematosus: a report of five cases.

OBJECTIVE: Systemic lupus erythematosus (SLE) is a chronic systemic disease, which can involve multiple organs such as kidney, skin and brain. Lung is another organ that can be affected. A number of pulmonary complications including pleuritis, pneumonitis, infectious pneumonia, pulmonary haemorrhage, pulmonary hypertension and pneumothorax have been reported in patients with SLE. Pulmonary involvement is relatively frequent in adult patients; it has infrequently been reported in children with SLE. However, pulmonary manifestations may be an initial and/or life-threatening complication of SLE in children. In this paper we aim to emphasize the pulmonary involvement in childhood-onset SLE via description of our patients. METHODS: The patients, who were diagnosed with SLE at the Children's Hospital of Ankara University Medical School between 1993 and 2002, were retrospectively evaluated for evidence of pulmonary involvement. All patients fulfilled at least four of the classification criteria of the American Rheumatism Association. Using a standardized form, we obtained data regarding the age, sex and presenting complaints of the patients, previous therapies given, clinical and laboratory features, treatment and outcome. Informed consent was obtained from all patients. RESULTS: During the 10-yr study period, 16 patients were diagnosed with childhood-onset SLE. Five of them (31%) had pulmonary involvement including acute lupus pneumonitis, invasive pulmonary aspergillosis, cytomegalovirus pneumonia and pulmonary haemorrhage (in two patients). These 5 patients with lupus lung disease are presented in more detail.

Macrodystrophia lipomatosa of the feet and subcutaneous lipomas.

We report on a girl aged 16 months with localized gigantism of the lower limb and widespread subcutaneous lipomas. This is the first case of macrodystrophia lipomatosa with lipomatous involvement in areas other than the involved limb.

Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey.

UNLABELLED: Considerable differences on the frequencies of the mitochondrial 12S rRNA A1555G and tRNA(Ser(UCN)) A7445G mutations have been reported in different populations. Our screening of 168 patients coming from independent Turkish families with prelingual sensorineural non-syndromic deafness revealed three deaf children with A1555G (1.8%) but no examples of A7445G. One proband with the mitochondrial A1555G mutation has also evidence for right parietal infarct on a brain imaging study, for which common thrombotic mutations were found to be negative. CONCLUSION: This study shows that the mitochondrial A1555G mutation is among the significant causes of prelingual non-syndromic deafness in the Turkish population.

Intracranial lipoma with extracranial extension through foramen ovale in a patient with encephalocraniocutaneous lipomatosis syndrome.

We present CT and MR features of a large intracranial lipoma located in the left sphenocavernosal region in a patient with a history of spinal intradural lipoma excision. The lipomatous lesion surrounded the internal carotid artery and trigeminal nerve and extended extracranially into the infratemporal region through a smoothly dilated foramen ovale.

A rare cause of cervical spinal stenosis: posterior arch hypoplasia in a bipartite atlas.

We describe CT and MRI of a previously unreported combination of atlantoaxial anomalies consisting of posterior arch hypoplasia in a bipartite atlas with an os odontoideum, in a 30-year-old woman presenting with neck and left arm pain. MRI showed the os odontoideum, marked stenosis of the spinal canal at the level of the atlas, with cord compression and evidence of myelopathy. CT revealed a bipartite atlas with midline clefts in anterior and posterior arches, thickening in the anterior arch and hypoplasia of the posterior arch with incurving of both hemiarches. Flexion and extension radiographs demonstrated atlantoaxial instability.

Sonographic findings in ectopic cervical thymus in an infant.

We present the case of a 28-day-old boy with ectopic thymic tissue in the neck. Sonography showed a well-delineated, homogeneous lesion in the left submandibular region that was isoechoic relative to the mediastinal thymus. The lesion had angular margins and lacked a mass effect despite its large size (3 x 2 cm). On power Doppler imaging, arteries with an intermediate-impedance flow pattern were seen entering the lesion from the inferior and lateral margins. On both T1- and T2-weighted MR images, the lesion was isointense relative to the mediastinal thymus and had higher and lower signal intensity than muscle and fat, respectively. A sonographically guided needle biopsy confirmed the diagnosis of ectopic thymus.

Gadolinium-enhanced three-dimensional MR angiography in jugular phlebectasia and aneurysm.

True jugular vein aneurysms and phlebectasias are very rare abnormalities, which are usually discovered in children. Though their ultrasonographic features have been well described, magnetic resonance angiographic appearance of these lesions has not been reported in the radiology literature. We describe gadolinium-enhanced MR angiographic findings in two patients with internal jugular vein phlebectasia and one patient with anterior jugular vein aneurysm. The jugular venous system and its abnormalities were successfully depicted in the coronal plane, much like the images of coronal angiography.

Radiographic, CT, and MRI findings in primary pulmonary angiosarcoma.

We report a rare instance of primary pulmonary angiosarcoma presenting as a large solitary mass in the left upper lobe with mediastinal invasion. In particular, we emphasize the magnetic resonance (MR) imaging features, which included a markedly heterogeneous pattern consisting of hyperintense areas scattered throughout a background of intermediate signal intensity, rendering the lesion a cauliflower-like appearance especially on T2-weighted images. Being unreported so far in primary pulmonary angiosarcomas, these distinct MR imaging findings may be helpful in the differentiation of these neoplasms from lung cancers.

Gray-scale and color Doppler sonographic findings in intratesticular varicocele.

PURPOSE: We studied the gray-scale and color Doppler sonographic findings in intratesticular varicoceles in 7 testes in 5 patients. METHODS: The study group comprised 5 infertile men referred for scrotal sonography and found to have intratesticular varicocele. Patients were examined at rest and during Valsalva's maneuver in supine and standing positions. A diagnosis of intratesticular varicocele was made when intratesticular veins visible on gray-scale sonography showed retrograde flow on color Doppler sonography either spontaneously or during Valsalva's maneuver. The maximum diameter of dilated intratesticular veins and the predominant site of venous dilatation (mediastinum testis versus subcapsular) were recorded. RESULTS: Seven testes in 5 patients harbored visibly enlarged intratesticular veins that showed retrograde flow either spontaneously or during Valsalva's maneuver. The condition was bilateral in 2 patients and left-sided in 3 patients. The largest intratesticular vein measured less than 2.0 mm in diameter in 3 testes and was 2.0 mm or larger in 4 testes. In all affected testes, there was some degree of subcapsular venous dilatation, which in 3 testes was even more prominent than venous dilatation in the mediastinum testis. All intratesticular varicoceles were accompanied by extratesticular varicoceles. CONCLUSIONS: A threshold value of 2.0 mm seems inadequate for the diagnosis of intratesticular varicocele because obviously variceal venous structures with retrograde flow on color Doppler sonography may be smaller than 2.0 mm in diameter. Contrary to the previous descriptions of the entity, subcapsular veins may be affected to a greater degree than mediastinal veins in intratesticular varicocele.

Cross-sectional imaging in ureter tumors: findings and staging accuracy of various modalities.

We present cross-sectional imaging findings in eight patients with ureter tumors. Eight patients were examined by computed tomography (CT), seven by ultrasonography (US), and five by magnetic resonance imaging (MRI). All the lesions were detected by the three modalities. All modalities were accurate in excluding the periureteral invasion and lymphadenopathy in Stages 1 and 2 tumors. While CT and MRI identified the periureteral invasion and lymphadenopathy in four patients with advanced tumors, US failed to show the local invasion in three of four patients. Nevertheless, enlarged retroperitoneal lymph nodes could be detected sonographically in the three Stage 4 tumors. CT and MRI appear to have a high diagnostic sensitivity and staging accuracy in ureter tumors. Although US detects ureter tumors efficiently, this technique seems to be unreliable in showing local invasion in a substantial number of patients.