1/17. Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?Brown-Vialetto-Van Laere syndrome or pontobulbar palsy with deafness is a rare disorder characterized by bilateral nerve deafness, a variety of cranial nerve disorders usually involving the motor components of the 7th and 9th to 12th cranial nerves, and less commonly an involvement of spinal motor nerves and upper motor neurons. Familial and sporadic cases have been reported. Based on particular evidence, autosomal recessive, autosomal dominant, and X-linked inheritance, as well as autoimmune origin have been considered. We report on a large inbred Lebanese family with four patients of both sexes, strongly suggesting autosomal recessive inheritance.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
2/17. Infantile progressive bulbar palsy with deafness.A 12-month-old boy with progressive cranial nerve palsies followed by ventilatory failure demanding artificial ventilation, generalized muscle weakness, and rapid progression to death at the age of 21 months is described. The patient had normal early development and also apparently normal hearing at presentation of illness but, after 6 months of the onset of the disease, hearing loss was documented by brainstem auditory evoked potentials (BAEP). Although the initial clinical and laboratory findings of this infant could fit with the diagnosis of progressive childhood bulbar palsy or Fazio-Londe (FL) disease, the subsequent appearance of hearing loss suggests that this patient represents a case of progressive bulbar palsy with perceptive deafness or Brown-Vialetto-Van Laere (BVVL) syndrome. To our knowledge, this case of BVVL syndrome with severe clinical features and rapid deterioration leading to death is the youngest one reported in the literature. Furthermore, this case emphasizes the need for repeated auditory examinations, including the performance of BAEP in all cases, especially infants and young children with progressive bulbar palsy.- - - - - - - - - - ranking = 0.25keywords = nerve (Clic here for more details about this article) |
3/17. X-linked spinal and bulbar muscular atrophy without proximal atrophy.We report on a case of genetically proven X-linked spinal and bulbar muscular atrophy (X-SBMA) with prominent distal muscle atrophy and without proximal muscle involvement. The patient was a 35-year-old man who had a history of slow progressive hand and distal leg muscle weakness and wasting for 10 years. Motor nerve conduction velocities were normal with reduced compound muscle action potential amplitudes of hand and foot muscles. Sensory action potential amplitudes were small. Needle EMG revealed a chronic partial denervation with reduced interference in hand and distal leg muscles but with normal heading in all tested proximal muscles. Genetic studied showed an expansion of CAG repeat in the first exon of the androgen receptor gene, which suggests diagnosis of X-SBMA. The importance of genetic studies in this patient with unusual clinical presentation is emphasized.- - - - - - - - - - ranking = 0.25keywords = nerve (Clic here for more details about this article) |
4/17. Madras motor neuron disease variant, clinical features of seven patients.Madras motor neuron disease (MMND) has the characteristic features of onset in the young, atrophy and weakness of the limbs, multiple cranial nerve palsies particularly the seventh, ninth to twelfth and sensorineural hearing loss with unique geographic distribution to southern part of india. During a period of 28 years (1974-2001), 7 (13%) among 54 patients of MMND seen at a tertiary referral center at Bangalore, india, had the additional features of optic atrophy in all and cerebellar involvement in three of them. There were three males and four females, the mean age at onset was 11.7 years, with a mean duration of illness of 6.4 years. All except one patient were ambulant and independent in the activities of daily living. family history of MMND was present in more than a quarter (28.6%) of patients. Compared to MMND, these patients had onset of illness at a younger age and family history was more frequently observed, however, these differences were not statistically significant. Bulbar palsy was an invariable feature, being present in all patients compared to 38.3% of MMND and the difference was statistically significant (p=0.003). This clinical profile may be considered to be a variant of Madras motor neuron disease (MMNDV).- - - - - - - - - - ranking = 0.25keywords = nerve (Clic here for more details about this article) |
5/17. Progressive bulbur paralysis (Fazio-Londe disease).Progressive bulbar paralysis of childhood is characterised by progressive paralysis of muscles innervated by cranial nerves. The authors report a case of progressive bulbar paralysis of childhood in a 12-year-old child. child was admitted with the complaints of drooping of eyelids, difficulty in swallowing and hoarse voice. She had involvement of III, VII, IX, X, XI and XII cranial nerves and the corticospinal tracts. electromyography revealed spontaneous activity in the form of fasciculations, giant motor unit potential and discrete recruitment of motor neurons suggestive of denervation pattern. Hearing assessment was normal. Muscle biopsy was also suggestive of neurogenic atrophy.- - - - - - - - - - ranking = 0.5keywords = nerve (Clic here for more details about this article) |
6/17. Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology.Brown-Vialetto-Van Laere syndrome, or pontobulbar palsy with deafness, is a rare disorder characterized by bilateral sensorineural deafness and a variety of cranial nerve disorders usually involving the motor components of the lower cranial nerves. Less commonly, spinal motor nerves and upper motor neurons are involved. Familial and sporadic cases have been reported. Based on evidences, this syndrome has been related to autosomal recessive, autosomal dominant and X-linked inheritance. Autoimmune origin has been considered as well.In this paper, we report the case of a 38-year-old female patient who primarily presented with bilateral sensorineural hearing loss and then progressively developed Xth and VIIth cranial nerve paralysis. Brown-Vialetto-Van Laere syndrome was diagnosed with this symptom complex of sensorineural hearing loss and pontobulbar palsy.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
7/17. Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-van Laere syndrome) with hyperintense brainstem nuclei on magnetic resonance imaging: new finding in three siblings.Three siblings (one boy and two girls) with Brown-Vialetto-van Laere syndrome are reported. A peculiar feature of onset with hearing loss in a patient with multiple cranial nerve palsies and a positive family history suggests this diagnosis. In our family, an autosomal recessive mode of inheritance was seen. In addition, we observed that early onset was associated with rapid deterioration and death. optic nerve involvement and hyperintensity of the brainstem nuclei on magnetic resonance imaging (MRI) are two new features described in this report.- - - - - - - - - - ranking = 0.5keywords = nerve (Clic here for more details about this article) |
8/17. Generalized giant axonal neuropathy-a case with features of Fazio-Londe disease.We present the 8th case so far published of generalized giant axonal neuropathy. Many features of the neurological picture of this 8 year 8 month old boy were suggestive of progressive bulbar paralysis of childhood. Muscle and sural nerve biopsies disclosed typical nodular axonal swellings measuring between 10--29 nm. Ultrastructure of the inflated portions of the axon consisted almost exclusively of 10 nm filaments. Normally appearing constituents were found in the non-dilated portions of the axons with this particularity that glycogen and mitochondria were aggregated. Previous clinical and pathological evidence indicates that this rare disorder not only affects the peripheral nerves but also the whole CNS. Our case differs from the others reported in literature by its rapidly deteriorating course and by the prominent involvement of some brain-stem motor functions; we offer the theory that a link might be implicated between this entity and Fazio-Londe disease.- - - - - - - - - - ranking = 0.5keywords = nerve (Clic here for more details about this article) |
9/17. An atypical case of progressive supranuclear palsy.We report a 59 year old woman who presented with double vision, nuchal pain and mild dementia. On neurological examination she demonstrated third, sixth and seventh nerve palsies and ataxia. Following intravenous ACTH and oral prednisone therapy she showed a remarkable recovery which left her with only a left facial weakness. She remained well for two years. She then developed bulbar palsy and profound dementia. Pathological examination revealed progressive supranuclear palsy (PSP). This patient demonstrated a greater variability in the course of PSP than has previously been recognized.- - - - - - - - - - ranking = 0.25keywords = nerve (Clic here for more details about this article) |
10/17. Cranial nerve palsies in cervical injuries.The occurrence of cranial nerve palsies in cervical injuries is described in eight patients. The clinical features were dramatic and usually presented soon after injury, the most common picture being that of a bulbar palsy, with acute respiratory distress and dysphagia. Neurologic recovery, both from cranial nerve palsies and motor and sensory deficits, was substantial in all instances, suggesting that brain-stem ischaemia due to vertebral artery spasm or compression had been a factor in their causation. Alternatively, differential movement between the base of the skull and the upper part of the cervical spine at the time of injury could have caused an extracranial injury to the lower cranial nerves.- - - - - - - - - - ranking = 1.75keywords = nerve (Clic here for more details about this article) |
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