11/107. Familial amyotrophic lateral sclerosis with onset in bulbar sign, benign clinical course, and Bunina bodies: a clinical, genetic, and pathological study of a Japanese family. We report a Japanese family with autosomal dominant adult-onset amyotrophic lateral sclerosis (FALS) with onset in the bulbar musculature, clinically benign course, absence of the Cu/Zn superoxide dismutase-1 (SOD 1) gene mutation, and many Bunina bodies, in addition to involvement of the upper and lower motor neurons. The proband was a Japanese woman who was 66 years old at the time of death. family history disclosed five patients with FALS over three generations. She developed dysarthria at age 57, followed by dysphagia, muscle weakness of the upper extremities, and difficulty in respiration. She could walk without support until her death. The elder sister of the proband developed dysarthria at age 48 and died at age 58. A genetic study of the nephew of the proband showed the absence of a mutation in the SOD 1 gene. Neuropathological examination of the proband disclosed neuronal loss in the upper and lower motor neurons, and numerous Bunina bodies in the lower motor neurons without Lewy body-like inclusions or ubiquitin-immunoreactive neuronal inclusions. No degeneration of the Clarke's column, middle root zone of the posterior column, or posterior spinocerebellar tract was present. review of the literature revealed that only patients with FALS with a long survival period of over 5 years had pathological findings consistent with FALS with posterior column involvement. This study contributes to the elucidation of the clinicopathological heterogeneity of FALS. ( info) |
12/107. Worster-Drought and congenital perisylvian syndromes-a continuum? A 5-year-old female was evaluated because of severe speech and expressive language delay. On examination, she could hardly speak and communicated through gestures. She manifested severe dysarthria and difficulty in protruding and moving her tongue laterally. She lacked coordination of the swallowing process, with drooling and an increased mental reflex. Her cognitive development was normal, and no associated neurologic dysfunction of the limbs was noted. On follow-up, the child experienced two episodes of seizures at 6 years of age. magnetic resonance imaging of the brain demonstrated perisylvian and frontal polymicrogyria. Clinical and radiologic findings demonstrated a similarity and continuum between congenital suprabulbar paresis (Worster-Drought syndrome) and perisylvian syndrome. ( info) |
13/107. Brown-Vialetto-Van Laere syndrome: case report and literature review. We describe a case of the Brown-Vialetto-Van Laere syndrome, which is a rare disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. More than 30 cases have been reported since the first case was described in 1894. We review the literature of this condition, comparing our case with those reported in the literature and emphasizing important features to improve our understanding of this syndrome. ( info) |
14/107. Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy. A 70-year-old Japanese man with amyloid polyneuropathy associated with a Val 107 transthyretin (TTR) mutation is reported. The patient presented with carpal tunnel syndrome, cardiomyopathy, bulbar palsy, dysphonia and polyneuropathy. dna analysis of the TTR gene revealed a point mutation responsible for substitution of valine for isoleucine at position 107 of the TTR molecule. Taken together with reports of patients with the same TTR variant, Val 107 TTR mutation is probably associated with a clinical phenotype characterized by carpal tunnel syndrome, cardiomyopathy, bulbar palsy and dysphonia. This case implies a worldwide distribution of the Val 107 TTR mutation with a common clinical phenotype, despite different ethnic background. ( info) |
15/107. Progressive bulbar palsy: a case report diagnosed by lingual symptoms. The aim of this report is to show a case of Progressive Bulbar Palsy (PBP), diagnosed by oral medicine specialists, from oral symptoms of the disease. We have found no more than two published cases of PBP diagnosed by lingual alterations. We have followed the patient for almost four years, which is remarkable considering that the normal survival period for these patients is up to three years. We would like to emphasize the role of general dentists in the diagnosis of systemic conditions based on an oral examination that should include the oro-facial muscles. ( info) |
16/107. Acute isolated bulbar palsy with anti-GT1a IgG antibody subsequent to campylobacter jejuni enteritis. We describe a patient with acute isolated bulbar palsy following enteritis. A 29-year-old man developed dysphagia and nasal voice without limb weakness, ataxia, or areflexia. High titres of serum anti-GT1a and anti-campylobacter jejuni IgG antibodies were detected. He was treated with plasmapheresis, resulting in rapid clinical improvement. This case suggests that an acute isolated bulbar palsy may be caused by a pathology relating to guillain-barre syndrome (GBS), in which anti-GT1a IgG antibody may have a role. ( info) |
17/107. epilepsy with reversible bulbar dysfunction. In patients with focal epilepsy, focal neurological dysfunction can occur due to status epilepticus and also as a post-ictal phenomenon. Bulbar dysfunction as evident by drooling, dysarthria, swallowing difficulties, and palatal-glossalpharyngeal weakness has been reported in conjunction with epilepsy. This is non-progressive and is correlated in its severity with the frequency of seizures. Accompanying EEG discharges are often localized to rolandic areas that cortically represent oral movements and salivation. We report a 6-year-old male and a 6 1/2-year-old female with progressive bulbar dysfunction resulting from epilepsy. Ictal EEGs in patient 1 did not confirm a diagnosis of epilepsy. With no evidence of a cortical or brainstem focus from EEG or MRI, it is very difficult to explain the mechanism of bulbar dysfunction. The complete restoration of bulbar function after treatment with antiepileptic drugs demonstrates the need to consider epilepsy in similar clinical situations. ( info) |
18/107. 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. ( info) |
19/107. 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. ( info) |
20/107. Progressive bulbar paresis in childhood. We present a case of progressive bulbar paresis in a 2-year-old child, with appropriate autopsy findings. A review of previously reported cases and a comparison with more extensive literature in Werdnig-Hoffmann disease suggest that Fazio-Londe disease is not unique, but belongs in the spectrum of progressive lower motor neuron disease. ( info) |