Hypertrophic pachymeningitis: varied manifestations of a single disease entity. (17/228)

Hypertrophic pachymeningitis is a unique clinical entity characterised by fibrosis and thickening of the duramater with resulting neurological dysfunction. Three cases of this entity are described. Presenting features were headaches and cranial neuropathies in two patients and predominantly cerebellar dysfunction in the third. One of the patients also had evidence of spinal involvement. Lower cranial nerves were chiefly involved in two patients whereas optic nerve was the predominantly affected nerve in one. Except for the presence of rheumatoid arthritis in one of the patients, we could not document clinical or biochemical evidence of any predisposing infective, inflammatory or infiltrative condition in the other two. All three patients had characteristic changes on imaging suggestive of thickened and enhancing duramater. Although variable steroid responsiveness was seen in all the three patients, tendency towards steroid dependence was evident. The clinical presentations, causes, radiological features, management options and differential diagnosis of this unique clinical syndrome have been discussed.  (+info)

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. (18/228)

TBX1 is the major candidate gene for DiGeorge syndrome (DGS). Mouse studies have shown that the Tbx1 gene is haploinsufficient, as expected for a DGS candidate gene, and that it is required for the development of pharyngeal arches and pouches, as predicted by the DGS clinical phenotype. However, a detailed analysis of the cardiovascular phenotype associated with Tbx1 mutations has not been reported. Here we show that Tbx1 deficiency causes a number of distinct vascular and heart defects, suggesting multiple roles in cardiovascular development - specifically formation and growth of the pharyngeal arch arteries, growth and septation of the outflow tract of the heart, interventricular septation, and conal alignment. Comparison of phenotype and gene expression using a Tbx1-lacZ reporter allele supports a cell-autonomous function in the growth of the pharyngeal apparatus, and a cell non-autonomous function in the growth and early remodeling of the pharyngeal arch arteries. Our data do not support a direct role of neural crest cells in the pathogenesis of the Tbx1 mutant phenotype; however, these cells, and the cranial nerves, are misdirected. We hypothesize that this is due to the lack of a guidance role from the pouch endoderm, which is missing in these mutants.  (+info)

Radiation-related cranial nerve palsy in patients with nasopharyngeal carcinoma. (19/228)

BACKGROUND: Cranial nerve palsy is a rare complication after patients with nasopharyngeal carcinoma (NPC) receive radiotherapy using a technique that delivers 180-200 centigrays (cGy) per day. Cranial neuropathy is of particular clinical interest in terms of making a differential diagnosis, because it is also a common presenting manifestation in patients with NPC. Cranial neuropathy may lead to distressing signs and symptoms in these patients, and their treatment has not been addressed in previous reports. This article presents the authors' experience with radiotherapy-related cranial nerve palsy in patients with NPC. METHODS: Nineteen patients were diagnosed with radiation-related neuropathy. Patients with recurrent tumors or with a suspicion of persistent or recurrent tumors were excluded. Most patients were treated using 180 cGy or 200 cGy per fraction per day. The total dose was 7000-13,000 cGy to the nasopharynx and 5000-9000 cGy to the neck. Unilateral vocal cord paralysis alone and hearing loss were not included in the analysis. RESULTS: There were 15 male patients and 4 female patients. The latency before palsy occurred was 12-240 months. Single nerve palsy developed in four patients, including two patients with hypoglossal palsy and two patients with recurrent laryngeal palsy. Two patients had three nerve palsies each. The other 13 patients presented with 2 nerve palsies each. Vagus and hypoglossal palsy appeared to be a frequent combination and occurred in 11 patients. Overall, there were 17 patients with hypoglossal palsy (7 bilateral, 8 left-sided, and 2 right-sided), 11 patients with vagus palsy (2 bilateral, 7 left-sided, and 2 right-sided), 6 patients with recurrent laryngeal nerve palsy (5 bilateral), and 2 patients with accessory palsies (all bilateral). Marked neck fibrosis was present in 12 patients. Patients who had vocal cord paralysis suffered from easy choking and hoarseness. Severe respiratory difficulty occurred in two patients who had bilateral vocal cord palsy. Surgical procedures included laryngoplasty, tracheostomy, and gastrostomy. Quality of life improved considerably after patients underwent surgery. CONCLUSIONS: Radiotherapy-related cranial nerve palsy may occur in patients with NPC after they receive conventional radiotherapy. Hypoglossal nerve palsy was found the most frequently in this series, followed by vagus nerve palsy and recurrent laryngeal nerve palsy. Neck fibrosis and the course of the three nerves through the neck may be important risk factors for the development of palsy. The diagnosis must be made only after the possibilities of tumor-induced palsy and idiopathic palsy are excluded. Surgery is helpful in improving the quality of life in many patients.  (+info)

Complete superior and inferior sagittal sinus thromboses with multiple cranial nerve pareses and transient ischemic attack--case report. (20/228)

A 27-year-old woman with headache and right peripheral facial nerve paresis persisting for over 25 days, and left hemiparesis for 2 days, which had all been gradually improving, was admitted to our hospital as she suddenly developed horizontal and vertical diplopia. She had right fourth and sixth cranial nerve pareses, papilledema, and right orbital venous congestion, and also experienced a seizure on the day of admission. Magnetic resonance (MR) imaging and MR venography revealed complete superior and inferior sagittal sinus thromboses and significant collateral venous channels, but no parenchymal lesion. Fourth and seventh cranial nerve pareses and the left hemiparesis resolved completely within 2 days, but she concurrently developed an episode of right hemiparesis, which lasted for 30 minutes. The patient recovered with medical therapy. MR venography showed recanalization of both sinuses. She was neurologically intact except for minimal right abducens nerve paresis at discharge, 40 days after admission. Multiple cranial nerve pareses with transient ischemic attack is an extremely rare manifestation of superior sagittal sinus thrombosis. Transient functional disturbance due to temporary reduction of tissue perfusion caused by overload of the collateral channels is more likely to be responsible for the transient ischemic attack and reversible ischemic neurological deficit.  (+info)

CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy. (21/228)

OBJECTIVE: To analyze the CARD15 gene in families with heritable multi-organ granulomatoses, including the original Blau syndrome kindred as well as other families with related granulomatous conditions. METHODS: Linkage mapping was performed in 10 families. Observed recombination events were used to exclude regions centromeric or telomeric to 16q12.1, and the Blau gene critical region was refined to <3 cM, corresponding to a physical distance of 3.5 megabasepairs. Based on its known biochemical function, CARD15 was analyzed as a positional candidate for the Blau syndrome susceptibility gene, by direct DNA sequencing. RESULTS: These studies resulted in the identification, in 5 of the families, of 2 sequence variants at position 334 of the gene product (R334W and R334Q). Affected family members from the original Blau syndrome kindred were heterozygous for the R334W missense mutation; mutations at the same position were also observed in several unrelated Blau syndrome families, some of whose phenotypes included large-vessel arteritis and cranial neuropathy. The missense mutations segregated with the disease phenotype in the families, and were not seen in 208 control alleles. CONCLUSION: These findings demonstrate that CARD15 is an important susceptibility gene for Blau syndrome and for other familial granulomatoses that display phenotypic traits beyond those of classic Blau syndrome.  (+info)

Temporary multiple cranial nerve palsies in a patient with type 1 diabetes mellitus. (22/228)

Remittent isolated palsy of peripheral or of upper cranial nerves in diabetic patients is well documented, but paralysis of a lower cranial nerve or an isolated branch of any cranial nerve has rarely been reported. In the case described, besides temporary hypoglossal and facial nerve palsies previously, unilateral temporary vocal cord palsy caused by right inferior laryngeal nerve (recurrent) paralysis associated with type 1 diabetes mellitus is presented. Hoarseness and vocal cord palsy of the patient, as in the case of her first admission with other complaints due to other cranial nerve palsies, totally remitted, presumably both owing to improved metabolic control.  (+info)

Cranial nerve pareses following wrapping of a ruptured dissecting vertebral artery aneurysm: a possible complication of cyanoacrylate glue--case report. (23/228)

A 51-year-old female with a ruptured dissecting vertebral artery aneurysm underwent an uneventful wrapping technique using Biobond-soaked gauze through a unilateral suboccipital transcondyle approach. On the 3rd postoperative day, she developed pareses of the ipsilateral VII through XII cranial nerves. Daily intravenous administration of 300 mg of hydrocortisone was started. This treatment was continued and dosage was tapered until the 10th postoperative day. The cranial nerve pareses deteriorated until the 8th postoperative day, but slowly resolved by 3 weeks after surgery. The patient was discharged with slight hoarseness and dysphasia 5 weeks after surgery. She had only slight hoarseness at 6 months. This complication was probably due to a neural toxic response to the Biobond.  (+info)

Long-term neurological outcome of childhood brain tumors treated by surgery only. (24/228)

PURPOSE: To evaluate the pattern of neurological late effects in patients who have received surgery only for a brain tumor in childhood and to identify possible risk factors for neurological sequelae. PATIENTS AND METHODS: The medical, histologic, and operative records were reviewed for 65 consecutive patients operated for a benign brain tumor from 1970 to 1997, and all patients were re-examined after a median length of follow-up of 10.7 years. Thirty-four patients had posterior fossa tumors, 22 patients had cerebral hemisphere tumors, and nine patients had midline tumors. RESULTS: At the time of follow-up, 20 patients (31%) had no neurological deficits, 22 patients (34%) had minor deficits that did not interfere with their daily life activities, and 23 patients (35%) had moderate or severe deficits such as severe ataxia, spastic paresis, seriously reduced vision, or epilepsy with more than two seizures per year. Fourteen of the 31 patients (45%) registered with ataxia preoperatively had recovered fully. Six of seven patients had persistence of a pre- or postoperatively developed hemiparesis. Thirteen of 23 patients had persistence of cranial nerve deficits that developed second to surgery. Fifty-five percent of the 18 patients with seizures at diagnosis were seizure-free at follow-up. At follow-up both ataxia and hemiparesis were significantly more frequent among females (P =.02 and P =.03, respectively). CONCLUSION: In patients who received operation as the only treatment for their brain tumor, there was a good chance of total or partial recovery of preoperative and postoperative neurological deficits, although only one third of the patients will have no long-term neurological deficits.  (+info)