Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing.

BACKGROUND: Horizontal gaze palsy and progressive scoliosis (HGPPS) is caused by mutations of the ROBO3 gene, which encodes a receptor associated with axonal guidance during development. Although there is evidence for uncrossed cuneatal and corticospinal tracts in HGPPS, it is unclear whether other central nervous system pathways are involved. OBJECTIVE: To study two patients with HGPPS homozygotic for the ROBO3 E319K mutation using a variety of neurophysiological and neuropsychological tests. METHODS: A battery of neuropsychological tests was applied to assess various cognitive and perceptual functions. The corticospinal, somatosensory and auditory pathways were evaluated using appropriate neurophysiological tests. To access motor pathways to the neck muscles, electromyographic recordings were obtained from the sternocleidomastoideus and splenius capitis muscle during active head rotation. RESULTS: Both patients performed normally on manual dexterity, complex sensory and visuospatial functions, reading and general intelligence tests. Motor evoked potentials in both patients showed uncrossed corticospinal tracts for the extremities, although in one patient, electromyography indicated pyramidal tract crossing for the neck muscles. Although somatosensory evoked potentials showed uncrossed somatosensory fibres subserving proprioception and light touch, right median nerve somatosensory evoked potential in one patient indicated a partial lemniscal crossing. Sympathetic skin response and blink reflex showed a midline crossing of the spinothalamic and quintothalamic tracts. Brain stem auditory evoked potentials indicated a lack of crossing in the level of the trapezoid body. CONCLUSIONS: Our patients with the ROBO3 E319Kappa mutation show normal perceptual and cognitive functions and have both crossed and uncrossed motor, sensory and auditory pathways.

Adenoid cystic carcinoma of the temporal bone with distant metastases.

Malignant tumors of the temporal bone are rare neoplasms. Adenoid cystic carcinoma (ACC) is the most common malignant tumor of minor salivary glands, while a quite rare tumor of the major. It is considered a slow-growing tumor with a course that is characterized by local recurrences and late distant metastases to lungs (80-90%), bone and liver. When metastases occur in bone especially the spine, the course of disease is usually fulminant. Intracranial involvement can occur by direct extension, hematogenous or perineural spread and represents an advanced stage of the disease. In this paper, we present a rare case of temporal bone ACC reporting for the first time simultaneous bony and pulmonary distant metastases. The origin, the pathology, the imaging techniques, the differential diagnosis, the treatment options and the prognosis of these tumors are discussed.

Transverse myelitis associated with herpes simplex virus infection.

The case of an otherwise healthy 6-year-old boy with symptoms and signs of acute transverse myelitis is presented. The diagnosis was confirmed by magnetic resonance imaging. An episode of gingivostomatitis had preceded, and serology indicated herpes simplex virus type 1 infection. The child recovered gradually, and no relapses were noted during a 30-month follow-up period.

[Bilateral paraganglioma of the vagus nerve]. / Bilaterales Paragangliom des Nervus vagus.

Paragangliomas are rare, usually benign tumours of the head and neck region, located along the cranial nerves and the big vessels. Vagus paraganglioma represents less than 3% of all cases of paragangliomas of the head and neck. Approximately 10% of vagus paragangliomas are presented as bilateral masses. We present the case of 75 year old female with bilateral paraganglioma, and papillary cancer of the thyroid gland at the time of diagnosis. Diagnostic and therapeutic procedures are discussed with special regard to possible complications.

Retroperitoneal fibrosis during the course of ulcerative colitis. A simple coincidence?

Retroperitoneal fibrosis has been described as a rare occurrence during the course of inflammatory bowel disease, mainly Crohn's disease. This is the third report on retroperitoneal fibrosis occurring during the course of ulcerative colitis. A 62-year-old male patient with a 5-year history of ulcerative colitis developed stenosis of the left ureter due to retroperitoneal fibrosis. Treatment consisted in surgically releasing the ureter from the mass and steroids. During a 2.5-year follow-up, renal function was stable and ulcerative colitis in remission. Important aspects of this case are the moderate course of ulcerative colitis, ultrasound confirmation of normal kidney structure before manifestation of fibrosis, hypertension diagnosed four years before retroperitoneal fibrosis, a non-functioning kidney at diagnosis, and reduction of retroperitoneal mass after steroid treatment. Retroperitoneal fibrosis, although a rare disease entity should be considered when a patient with ulcerative colitis develops otherwise unexplained renal insufficiency.

The silent epidural abscess as a complication of acute otitis media in children.

Acute otitis media with complications is a persistent problem in the modern antibiotic era with a relatively high mortality rate. Acute mastoiditis is a serious complication of acute otitis media with potentially grave consequences and the epidural abscess constitutes the commonest of all intracranial complications, arising from middle ear infections. We report two cases of children with acute mastoiditis without evidence of intracranial complication or subperiosteal abscess, in whom the early evaluation with computed tomography (CT) disclosed an unsuspected epidural abscess. Therefore, we stress the use of CT as a rule of thumb for every child with acute mastoiditis.

Artificial paravertebral widening for percutaneous CT-guided adrenal biopsy.

A percutaneous adrenal biopsy under CT guidance is described. The biopsy was performed after injection of physiologic saline solution into the paravertebral space, creating a wider pathway for needle insertion. This technique has been previously reported for biopsy of thoracic lesions, but in our case it was used for biopsy of a relatively inaccessible adrenal lesion. This artificial window that is formed by displacing the pleura laterally allows a direct and potentially safer access route to the retroperitoneum, avoiding puncture of pleura, diaphragm, and abdominal structures.

Maturation of the tract after percutaneous cholecystostomy with regard to the access route.

PURPOSE: To assess the shortest time for catheter removal with regard to the transhepatic or transperitoneal approach in patients undergoing percutaneous cholecystostomy (PC). METHODS: In this prospective study, 40 consecutive high-risk patients with acute cholecystitis (calculous, n = 22; acalculous, n = 18) underwent PC by means of a transhepatic (n = 20) or transperitoneal (n = 20) access route. In 28 patients (70%) computed tomography was used for puncture guidance, while in the remaining 12 (30%) the procedures were formed under ultrasound control. A fistulography was performed on the 14th postprocedural day in al patients and was repeated weekly if the tract was found to be immature. The catheter was removed only if a mature tract without evidence of leakage was delineated. RESULTS: In 36 of 40 patients the procedure was technically successful (90%). Three of the unsuccessful punctures were attempted transperitoneally and one transhepatically. Thirty-five of 36 patients showed rapid improvement within the first 48 hr following the procedure (96%). Three of them died of their severe underlying disease (7.5%) and in another three the catheter was accidentally removed prior to the first fistulography (7.5%) A total of 30 patients could be fully evaluated after the procedure: 15 with a transhepatic, and 15 with a transperitoneal PC. Whereas 14 of 15 patients (93%) with transhepatic gallbladder access developed a mature tract after 14 days and the remaining patient after 3 weeks, only 2 of 15 patients (13%) with a transperitoneal route presented a mature tract after 2 weeks (p < 0.0001; chi2 test with Yates' correction). Eleven patients (73%) with transperitoneal access required 3 weeks and two patients (13%) 4 weeks for complete tract formation. CONCLUSION: A period of 2 weeks suffices for the majority of patients to develop a mature tract when the transhepatic access route is used; when using the transperitoneal route at least 3 weeks are required. We suggest that the transhepatic route is preferable since it allows earlier removal of the catheter and reduces the incidence of complications and discomfort for the patients.

Maturation of the Tract After Percutaneous Cholecystostomy with Regard to the Access Route

Purpose: To assess the shortest time for catheter removal with regard to the transhepatic or transperitoneal approach in patients undergoing percutaneous cholecystostomy (PC).Methods: In this prospective study, 40 consecutive high-risk patients with acute cholecystitis (calculous, n = 22; acalculous, n = 18) underwent PC by means of a transhepatic (n = 20) or transperitoneal (n = 20) access route. In 28 patients (70%) computed tomography was used for puncture guidance, while in the remaining 12 (30%) the procedures were performed under ultrasound control. A fistulography was performed on the 14th postprocedural day in all patients and was repeated weekly if the tract was found to be immature. The catheter was removed only if a mature tract without evidence of leakage was delineated.Results: In 36 of 40 patients the procedure was technically successful (90%). Three of the unsuccessful punctures were attempted transperitoneally and one transhepatically. Thirty-five of 36 patients showed rapid improvement within the first 48 hr following the procedure (96%). Three of them died of their severe underlying disease (7.5%) and in another three the catheter was accidentally removed prior to the first fistulography (7.5%). A total of 30 patients could be fully evaluated after the procedure: 15 with a transhepatic, and 15 with a transperitoneal PC. Whereas 14 of 15 patients (93%) with transhepatic gallbladder access developed a mature tract after 14 days and the remaining patient after 3 weeks, only 2 of 15 patients (13%) with a transperitoneal route presented a mature tract after 2 weeks (p < 0.0001; chi2 test with Yates' correction). Eleven patients (73%) with transperitoneal access required 3 weeks and two patients (13%) 4 weeks for complete tract formation.Conclusion: A period of 2 weeks suffices for the majority of patients to develop a mature tract when the transhepatic access route is used; when using the trans- peritoneal route at least 3 weeks are required. We suggest that the transhepatic route is preferable since it allows earlier removal of the catheter and reduces the incidence of complications and discomfort for the patients.

X-linked deafness with stapes gusher in females.

A 22-year-old woman presented with severe mixed hearing loss and a flow of cerebrospinal fluid in the middle ear during stapes surgery (stapes gusher). HRCT of the temporal bones showed characteristic abnormalities of the inner ear (bulbous dilatation of the lateral portion of the internal acoustic meatus with incomplete separation from the cochlea, and widening of the first part of the facial nerve canal) described in X-linked progressive mixed deafness with stapes gusher. The evaluation of the patient's family revealed a sister with the same clinical history and identical HRCT findings, and 11 normal male relatives. This is the first report with typical findings of this entity that affects only female members of a family, suggesting another type of inheritance.

Osteoblastoma of the nasal cavity arising from the perpendicular plate of the ethmoid bone.

The presence of a benign osteoblastoma in the ethmoid sinus is rare and only a few cases have been reported. This is a case of a benign osteoblastoma arising from the perpendicular plate of the ethmoid bone with extension to the nasal cavity. The diagnosis and management of this unusual lesion, as well as the histopathology and the imaging characteristics are reviewed. We also review the previously reported cases of benign osteoblastomas of different origin, with nasal cavity involvement.

Aspiration biopsy (FNA) in patients with various lung lesions.

Percutaneous fine needle aspiration biopsy for cytologic examination of lung lesions, is an accepted and safe diagnostic procedure, especially in cases of primary and metastatic lung tumors. This study includes 348 cases of patients with 172 cases of primary and 50 cases of metastatic lung tumors, 16 suspicious for malignancy, 49 negative for malignancy (2 false negatives), 9 inconclusive and 52 with inadequate material. In many tumor cases, immunochemistry was performed and the diagnosis was evaluated by comparison of the cytological diagnosis to the histological one. A statistical analysis was also performed. Sensitivity, specificity, positive predictive value and negative predictive value were respectively, 99.1%, 100%, 100% and 95.9%. This suggests that percutaneous FNA biopsy is a reliable method and finally, we believe that it can help the physicians in the approach of the diagnostic problems of lung lesions.

Normal computed tomography and magnetic resonance imaging anatomy of the globe, orbit, and visual pathways.

The presence of bone and fat in the orbit provide high contrast with normal structures on both CT and MR images. In patients with visual deficits or oculomotor paralysis, imaging studies should include the intracranial cavity to evaluate the visual pathways back to the occipital cortex and the cranial nerves within the cavernous sinuses and brainstem. Magnetic resonance images display the intracranial anatomy in exquisite detail. Fat-suppressed magnetic resonance sequences should be used in conjunction with gadolinium enhancement.