Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.
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Three Spanish families with an autosomal recessive severe hereditary motor and sensory neuropathy, showing mutations in the ganglioside-induced-differentiation-associated protein 1 (GDAP1) gene in the Charcot-Marie-Tooth (CMT) type 4A locus were studied. The disorder started in the neonatal period or early infancy with weakness and wasting of the feet and, subsequently, involvement of the hands, causing severe disability. By the late teens, some patients developed a hoarse voice and vocal cord paresis. Peripheral motor nerve conduction velocity (MNCV) could not be measured in many cases because of the absence of muscle response due to distal atrophy. However, latencies to proximal muscles were in the normal range; median MNCV was >40 m/s in those cases in which it could be measured. Sural nerve biopsy from two patients showed a pronounced depletion of myelinated fibres, regenerative clusters and signs of axonal atrophy. Additionally, a small proportion of thin myelinated fibres and proliferation of Schwann cells forming onion bulb structures were also found. Unmyelinated fibre population was markedly increased. These findings are indicative of a predominant axonal degeneration with some demyelinating features. These Spanish families share in the severe CMT clinical phenotype with some Tunisian families who also presented mutations in the GDAP1 gene and to which the CMT4A locus was originally assigned. However, our families differ in the presence of laryngeal involvement and values of MNCV and pathological features are more in line with CMT2 type. The possibility that GDAP1 gene mutations could be expressed under different phenotypes is a question to be resolved. (+info)
FRACTURES OF THE LARYNX.
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It is advised that in significant laryngeal trauma open exploration be done as soon as the general condition of the patient permits. The authors believe that the exact nature and severity of a laryngeal injury cannot otherwise be known, and that no method of closed reduction and fixation will accomplish as good results as open repair. Conservative expectant treatment will in many cases result in a much greater morbidity and a poor ultimate result. (+info)
A 61 year old man died after presenting with a 24 h history of haematemesis and haemoptysis, and one year history of hoarseness of voice. Post-mortem examination showed a dental plate eroding through the mid-oesophagus into a bronchus and into the descending arch of the aorta, with scarring suggestive of old perforation. An organized haematoma also involved the left recurrent laryngeal nerve. Vocal cord paralysis may be a manifestation of foreign body-induced oesophageal perforation, which can lead to death from an oesophago-broncho-aortic fistula. Both complications of oesophageal perforation from a foreign body have not to our knowledge been previously reported. (+info)
DYSPHONIA DUE TO UNILATERAL NERVE PARALYSIS. TREATMENT BY THE INTRACORDAL INJECTION OF SYNTHETICS--A PRELIMINARY REPORT.
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The injection treatment of unilateral recurrent vocal cord nerve paralysis, successfully performed 40 years ago with paraffin, has recently been reintroduced with non-reactive synthetics. Improvement in the voice far and above that which can be achieved by voice therapy or any practicable surgical procedure has been demonstrated by several investigators. The technique is relatively simple, and there are no significant untoward reactions. Judging from experimental and clinical studies with these inert materials when introduced into other parts of the body, adverse long range effects are not likely to occur in the larynx. Eleven of 12 patients treated by injection of silicone or Teflon paste had substantial improvement in vocal quality and strength. Silicone was absorbed slowly from the injection site and the improvement was not enduring; when Teflon was used, it stayed at the site and the improvement was sustained. (+info)
Comparison of different thyroidectomy techniques for benign thyroid disease.
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Extent of thyroidectomy in the management of benign thyroid disease remains controversial. In this clinical study, three different thyroidectomy techniques were compared by means of the complication, short period recurrence and L-thyroxin requirement rates. Two hundred consecutive patients who had bilateral subtotal thyroidectomy (BST) (n = 71), unilateral total lobectomy + contralateral subtotal lobectomy (Dunhill Procedure (DP)) (n = 71), or total thyroidectomy (TT) (n = 58) for benign thyroid disorders were included in this study. One patient was re-operated due to bleeding in BST group. Wound infection was observed in 1 patient both in BST and DP group and 2 patients in TT group. Temporary hypocalcaemia was seen in 14 (19.7%) of BST group, in 19 (26.7%) of DP group, and in 14 (24.1%) patients of TT group (p>0.05). Transient recurrent laryngeal nerve palsy developed in 1 patient both in DP and TT group. One patient of DP group had secondary thyroidectomy due to postoperative diagnosis of papillary carcinoma. There was no significant difference in the mean durations of hospitalization between the groups. Mean postoperative follow-up periods were 27.7 months (6-56), 34.8 months (8-55), 26.5 months (6-54) in BST, DP and TT groups, respectively. While all patients were administered L-thyroxin in TT group, 26 (36.6%) patients in DP group and 34 (47.8%) patients in BST group needed no L-thyroxin supplementation and L-thyroxin requirement rates were not different in either group. We think that total thyroidectomy should be adopted for benign thyroidal diseases, because its complications are no different than those for BST and DP. If individual factors and patient's preference are not in favor of lifelong L-thyroxin supplementation, however, DP may be carried out for benign thyroidal diseases instead of BST. (+info)
Perceptual and instrumental evaluation of voice and tongue function after carotid endarterectomy.
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OBJECTIVE: Laryngeal and tongue function was assessed in 28 patients to evaluate the presence, nature, and resolution of superior recurrent laryngeal and hypoglossal nerve damage resulting from standard open primary carotid endarterectomy (CEA). METHODS: The laryngeal and tongue function in 28 patients who underwent CEA were examined prospectively with various physiologic (Aerophone II, laryngograph, tongue transducer), acoustic (Multi-Dimensional Voice Program), and perceptual speech assessments. Measures were obtained from all participants preoperatively, and at 2 weeks and at 3 months postoperatively. RESULTS: The perceptual speech assessment indicated that the vocal quality of "roughness" was significantly more apparent at the 2-week postoperative assessment than preoperatively. However, by the 3-month postoperative assessment these values had returned to near preoperative levels, with no significant difference detected between preoperative and 3-month postoperative levels or between 2-week and 3-month postoperative levels. Both the instrumental assessments of laryngeal function and the acoustic assessment of vocal quality failed to identify any significant difference on any measure across the three assessment periods. Similarly, no significant impairment in tongue strength, endurance, or rate of repetitive tongue movements was detected at instrumental assessment of tongue function. CONCLUSIONS: No permanent changes to vocal or tongue function occurred in this group of participants after primary CEA. The lack of any significant long-term laryngeal or tongue dysfunction in this group suggests that the standard open CEA procedure is not associated with high rates of superior recurrent and hypoglossal nerve dysfunction, as previously believed. (+info)
Schwannoma of the larynx-an uncommon cause of vocal cord immobility.
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We present a rare case of schwannoma of the larynx in a 26-year-old Chinese patient. The tumour was excised using a lateral thyrotomy approach, with satisfactory restoration of laryngeal function. The presentation, management, and outcome of treatment for this type of tumour are discussed. (+info)
A case of Collet-Sicard syndrome associated with traumatic atlas fractures and congenital basilar invagination.
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An 18 year old man with congenital basilar invagination developed multiple lower cranial nerve (CN) palsies including CN IX to XII after a traffic accident. Computed tomography of his skull base revealed a two part atlas Jefferson fracture. Normally, lower cranial nerves (CN IX-XII) pass through a space between the styloid process and the atlas transverse process. Atlas burst fractures rarely cause neurological deficits because of a greater transverse and sagittal diameter of the spinal canal at the atlas, and a tendency of the lateral masses to slide away from the cord after injury. However, when associated with a rare condition-congenital basilar invagination-atlas fractures can compromise the space and make CN IX-XII more vulnerable to compression injury. This report discusses the correlation between the anatomical lesions and clinical features of this patient. (+info)