A Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations.

X-linked deafness-2 (DFNX2) is an X-linked recessive disorder characterized by profound sensorineural hearing loss and a pathognomonic temporal bone deformity. Because hypothalamic malformations associated with DFNX2 have been rarely described, we aimed to further describe these lesions and compare them with features of a nonaffected population. All patients diagnosed with DFNX2 between 2006 and 2019 were included and compared with age-matched patients with normal MR imaging findings and without hypothalamic dysfunction. MR imaging features differing between groups were selected to help identify DFNX2. Sensitivity and specificity were calculated for these features. Agreement among 3 radiologists was quantified using the index κ. Information on the presence or absence of gelastic seizures, precocious puberty, or delayed puberty was also gathered. We selected distinctive MR imaging features of hypothalamic malformations in DFNX2. The feature selected on axial T2 images was the folded appearance of the ventromedial hypothalamus (sensitivity, 100%; specificity, 95.8%) characterized by an abnormal internal/external cleft (sensitivity, 100%; specificity, 95.7%). On coronal T2, the first distinctive feature was a concave morphology of the medial eminence (sensitivity, 100%; specificity, 97.1%), the second feature was at least 1 hypothalamic-septum angle ≥90° (sensitivity, 90%; specificity, 72.5%), and the third feature was a forebrain-hypothalamic craniocaudal length of ≥6 mm (sensitivity, 70%; specificity, 79.7%). Clinical features were also distinctive because 9 patients with DFNX2 did not present with gelastic seizures or precocious puberty. One patient had delayed puberty. The κ index and intraclass correlation coefficient ranged between 0.78 and 0.95. Imaging and clinical features of the hypothalamus suggest that there is a hypothalamic malformation associated with DFNX2. Early assessment for pubertal delay is proposed.

Radiological catheter drainage of abscesses in children.

PURPOSE: To assess the efficacy and safety of radiological catheter drainage of fluid collections and abscesses in children, and to review the principles, indications, technique, and possible complications of these procedures. MATERIAL AND METHODS: A retrospective analysis was made of all radiologically guided catheter placements performed between March 1999 and April 2003. Patients' age, sex, location of the collection, technical details of the procedure, including modality used for guidance, technique of placement, type of catheter used, catheter indwelling time, and time for temporization were recorded from chart reviews. Success rate was calculated based on the number of curative drainage procedures. RESULTS: 33 children (16 boys and 17 girls) aged between 7 days and 14 years of age (mean 7 years) underwent 37 procedures. Successful drainage was achieved in 31 of 33 patients (94%). The dwell time for catheters ranged between 1 day and 30 days (mean 5.7 days). Mean duration for defervescence was 2 days. There were no major complications. CONCLUSION: Imaging-guided catheter drainage of fluid collections in children is safe and effective. Newer approaches, better imaging, and improved techniques have resulted in improved cure rates. The basic principles, common indications, various techniques, and the possible complications of these procedures, with special reference to the pediatric population, are reviewed in this article.

A method to assess posterior urethral valve ablation.

PURPOSE: There are few published reports addressing the assessment of posterior urethral valve ablation. This study was performed to provide a ratio to measure successful treatment of posterior urethral valves. MATERIALS AND METHODS: A total of 35 patients with posterior urethral valves were treated by a single surgeon between 1995 and 2004. Of these patients 23 were younger than 1 year at diagnosis and were selected for this study. A urethral ratio was calculated by dividing the posterior urethral diameter by the anterior urethral diameter. A total of 31 males undergoing cystography for urinary tract infections were evaluated as normative controls. The urethral ratio was also measured and calculated for these patients. RESULTS: Median patient age was 1.5 months. In 13 patients preoperative cystograms were available and in 20 patients postoperative cystograms were available for review. Measurements were made of the posterior urethral and anterior urethral diameters. Median preoperative ratio in 13 patients was 8.6. This ratio decreased postoperatively to 3.1 in 15 patients who only required 1 ablation and 8.0 in 5 patients who required a second ablation. After a second ablation the ratio decreased to 3.1. The 5 cases requiring a second ablation were initially managed by cystoscopy and a flexible electrode. None of the patients treated initially with a resectoscope required a second ablation. Urethral ratio was 2.6 in 31 normal males undergoing cystogram for investigation of a urinary tract infection. CONCLUSIONS: Calculating urethral ratio in patients with posterior urethral valves allows objective measurement of the technical success of valve ablation.

Arnold Chiari type 1 malformation presenting with sleep disordered breathing in well children.

Healthy children, aged 3, 9, and 13 years referred with sleep disordered breathing had marked central apnoea and bradypnoea on polysomnography, necessitating the use of non-invasive bilevel ventilation in two cases. Each had normal neurological examinations and an Arnold Chiari type 1 malformation was confirmed on magnetic resonance imaging. All underwent urgent posterior fossa decompression which normalised their sleep breathing.

Fatal brain stem event complicating acute pancreatitis.

Acute pancreatitis, developing in a patient with chronic renal failure, was complicated by a fatal neurological illness during which MRI showed pontine and extrapontine changes consistent with pontine and extrapontine myelinolysis. At post mortem, acute pancreatitis was confirmed but the neuropathological findings were more in keeping with an unusual presentation of acute haemorrhagic leucoencephalitis, perhaps even representing a form of 'pancreatic encephalopathy'. Although the development of CT and MRI scanning has greatly increased the resolution of neuroimaging and facilitated diagnosis during life, the value of autopsy examination is confirmed in cases such as this. Sometimes the findings may raise more questions than may have been answered - this too is an important function!