Vascular Calcification in an Adolescent Treated with Long-Term Peritoneal Dialysis

The reason of high mortality in patients with chronic kidney disease (CKD) is cardiovascular disease and arterial calcification has been accepted as an additive factor on this status. In this report we described vascular and cardiac valvular calcifications in an adolescent on CAPD

Permanent Central Diabetes Insipidus with Complete Regression of Pituitary Stalk Enlargement After 4 Years of Follow−up

A 14 year−old patient was admitted because of a history of polyuria and polydipsia. A diagnosis of central diabetes insipidus (CDI) accompanied by growth hormone (GH) and gonadotropin deficiency was made. Hypophyseal magnetic resonance imaging (MRI) of the patient demonstrated isolated pituitary stalk enlargement. Although GH deficiency and gonadotropin deficiency were transient, CDI was persistent despite the regression of the pituitary stalk enlargement over the 4 years of follow−up

Prediction of degree of carotid stenosis with the transluminal attenuation difference ratio

PURPOSEWe aimed to assess the diagnostic performance of transluminal attenuation difference (TAD) in predicting the severity of internal carotid artery (ICA) stenosis.METHODSThe study cohort consisted of 48 patients with 70%) stenosis compared with control arteries and low-moderate stenosis. A TAD ratio cutoff of 4.5 predicted 70%–99% stenosis with a sensitivity of 100% and specificity of 93%. The inter- and intraobserver agreements in TAD measurements were almost perfect (ICC, 0.89–0.86).CONCLUSIONAssessment of TAD ratio predicts the degree of stenosis in concordance with NASCET system

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations

BACKGROUND: Mutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterized by inner ear anomalies. METHODS: Three Turkish, one Ecuadorian, and one Nigerian families were included based on either inner ear anomalies detected in probands or X-linked family histories. Exome sequencing and/or Sanger sequencing were performed in order to identify the causative DNA variants in these families. RESULTS: Four novel, c.707A>C (p.(Glu236Ala)), c.772delG (p.(Glu258ArgfsX30)), c.902C>T (p.(Pro301Leu)), c.987T>C (p.(Ile308Thr)), and one previously reported mutation c.346delG (p.(Ala116ProfsX26)) in POU3F4, were identified. All mutations identified are predicted to affect the POU-specific or POU homeo domains of the protein and co-segregated with deafness in all families. CONCLUSIONS: Expanding the spectrum of POU3F4 mutations in different populations along with their associated phenotypes provides better understanding of their clinical importance and will be helpful in clinical evaluation and counseling of the affected individuals. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12881-015-0149-2) contains supplementary material, which is available to authorized users

Herlyn-Werner-Wunderlich syndrome : sonographic and magnetic resonance (MR) imaging findings of this rare urogenital anomaly

BACKGROUND: Herlyn-Werner-Wunderlich syndrome is a rare congenital urogenital anomaly characterised by uterus didelphys with blind hemivagina and ipsilateral renal agenesis. Children usually have progressive pelvic pain after menarche, palpable mass due to hemihaemato(metro)colpos or pelvic inflammatory disease. The diagnosis usually requires a suspicion of this rare genitourinary syndrome. CASE REPORT: We present ultrasonography and MR imaging findings of this rare anomaly in two cases. CONCLUSIONS: Early recognition of this rare syndrome can lead to an immediate, proper surgical intervention and is necessary to prevent complications and preserve future fertility. Ultrasound and MR imaging findings can collectively delineate uterine morphology, indicate the absence of ipsilateral kidney and show obstructed hemivagina

Mill of non-neoplastic cranial complications of malignant disorders

Fitoz, Suat/0000-0002-0180-0013WOS: 000256501400001PubMed: 18553277PURPOSE To depict the well-known and atypical magnetic resonance imaging (MRI) findings of non-neoplastic central nervous system (CNS) complications of extra-CNS tumors and portray additional information from advanced techniques, such as diffusion and perfusion MRI. MATERIALS AND METHODS MRI scans of 92 patients were retrospectively evaluated based on the non-neoplastic effects induced by treatment or the remote effects of the tumor itself. Patients with brain metastases and/or patients who had whole brain radiation therapy were excluded so as not to take the primary radiation effects into consideration. RESULTS Sixteen patients (9 females and 7 males; age range, 11-68 years; median age, 45 years) had positive findings other than brain metastases. Six patients had posterior reversible encephalopathies, 3 patients had chemotherapy toxicity to the white matter, and 2 patients had acute strokes involving the posterior fossa and bilateral anterior circulation territory. Three patients had bilateral radionecrosis of the temporal lobe due to radiotherapy given for the vicinal tumor (nasopharyngeal carcinoma). One patient had encephalitis in the bitemporal region and one patient had cerebellar degeneration, each of whom had a paraneoplastic syndrome. CONCLUSION One of the major and noteworthy complications of malignancies directly affecting survival is brain metastasis, but non-neoplastic complications are infrequently encountered and are thus underestimated, either due to the absence of a true diagnosis or the lack of information pertaining to the clinical outcome. It is important for the radiologist to recognize these effects so as to help the clinician develop an optimal treatment strategy and avoid irreversible complications

Contrast-enhanced MR angiography of thoracic vascular malformations in children

To plan an effective management of thoracic vascular malformations, clinicians must have a clear understanding of the anatomy. Although echocardiography and angiography are the leading imaging modalities in patients with congenital cardiovascular anomalies, magnetic resonance (MR) imaging and computed tomography (CT) are valuable noninvasive adjuncts. MR imaging and CT are effective in demonstrating the complex extracardiac morphology and yield helpful information that can change the treatment plan. Although recent reports state the usefulness of multidetector CT (MDCT), in terms of pediatric population, the significance of radiation exposure should be taken into account. Thus, contrast enhanced MR angiography, as a guide in planning surgery, seems to be the best alternative to conventional angiography in the diagnosis of congenital vascular malformations. In this review, the diagnostic features of thoracic vascular malformations in pediatric population are discussed, and, the potential uses of contrast-enhanced MR angiography are emphasized with the retrospective evaluation of imaging findings in 114 examinations

A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child

We present a 4-year-old girl with congenital profound sensorineural deafness associated with inner ear malformation (incomplete partition type II, enlarged vestibule, and enlarged vestibular aqueduct). The proposita also had pseudocleft lips, skin defects, auricle abnormalities, and unilateral multicystic dysplastic kidney, leading to the diagnosis of branchio-oculo-facial (BOF) syndrome. Mutation analysis of the TFAP2A gene showed a de novo deletion of 18 and insertion of 6 nucleotides, resulting in deletion of amino acids LPGARR and insertion of RI between amino acids 276 and 281. Altered amino acids are located within the basic DNA binding and dimerization domains of TFAP2A. Previously reported amino acid substitutions in TFAP2A involved only DNA binding domain in four patients with BOF syndrome who were not reported to have profound sensorineural deafness. Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome

Niikawa–Kuroki (Kabuki) syndrome with congenital sensorineural deafness: Evidence for a wide spectrum of inner ear abnormalities

Hearing loss, mainly due to recurrent otitis media, has been reported in approximately 40% of individuals with Niikawa–Kuroki (Kabuki) syndrome (NKS). Sensorineural hearing loss leading to congenital or prelingual deafness has been described rarely. We have identified two unrelated individuals with Niikawa–Kuroki syndrome among 535 probands who have severe to profound sensorineural deafness. Bilateral absence of the cochlea with dilated dysplastic vestibule and unilateral enlarged vestibule were demonstrated in these two individuals. In conclusion, Niikawa–Kuroki syndrome should be kept in mind when evaluating an individual with congenital deafness and a wide spectrum of inner ear abnormalities occurs in this syndrome

Orbital wall infarction mimicking periorbital cellulitis in a patient with sickle cell disease

Ciftci, Ergin/0000-0002-4955-160X; Fitoz, Suat/0000-0002-0180-0013; Ertem, Mehmet/0000-0002-8173-7885WOS: 000244724900010PubMed: 17297619Orbital wall infarction and subperiosteal haematomas are unusual manifestations of sickling disorders. Here we report an 11-year-old girl with sickle cell anaemia having multiple skull infarctions including the orbital bony structures associated with subperiosteal haematomas. The diagnosis was made by MRI, which showed bone marrow changes and associated haemorrhagic collections. The patient was successfully managed without surgical intervention