1/29. Progressive ponto-bulbar palsy with deafness. A clinico-pathological study.Progressive ponto-bulbar palsy with deafness is a rare disease. It seems to be an abiotrophic process with autosomal recessive inheritance in most instances. Only one autopsy case had been briefly described (Lelong et al., 1941). The clinical features and the pathological findings of a new case are reported. The structures primarily involved are the grey matter of the brain stem and the spinal cord, including to some extent the optic tracts and most of the fiber tracts in the brain stem with exception of the pyramidal tracts.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/29. Histiocytic lesion mimicking intrinsic brainstem neoplasm. Case report.This 10-year-old girl presented with a 1-month history of progressive bulbar palsy and a solitary enhancing mass originating within the floor of the fourth ventricle. Results of initial imaging studies and presentation were suggestive of neoplasia. Subtotal resection was performed and pathological examination revealed the mass to be a histiocytic lesion, with no evidence of a glioma. The patient had no other stigmata of histiocytosis and was treated with steroid medications, resulting in prolonged resolution of the lesion. This case demonstrates that for discrete brainstem lesions the differential diagnosis includes entities other than glioma for which treatment is available. biopsy sampling should be considered when technically feasible.- - - - - - - - - - ranking = 2.5keywords = brain (Clic here for more details about this article) |
3/29. Diaphragmatic spinal muscular atrophy with bulbar weakness.We present the clinical and histopathological features of a child affected by diaphragmatic spinal muscular atrophy. The child was born with mild distal arthrogryposis, mild hypotonia and developed marked diaphragmatic and bulbar muscle weakness in the first week of life. Electrophysiological and pathological investigations performed at presentation were not conclusive, while the investigations performed at 3 months showed a clear neurogenic picture. Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that this syndrome represents a different entity from typical proximal spinal muscular atrophy.- - - - - - - - - - ranking = 83.919301168734keywords = atrophy (Clic here for more details about this article) |
4/29. 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.- - - - - - - - - - ranking = 0.5keywords = brain (Clic here for more details about this article) |
5/29. 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.- - - - - - - - - - ranking = 0.5keywords = brain (Clic here for more details about this article) |
6/29. 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 = 0.5keywords = brain (Clic here for more details about this article) |
7/29. 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 = 139.86550194789keywords = atrophy (Clic here for more details about this article) |
8/29. 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 = 27.973100389578keywords = atrophy (Clic here for more details about this article) |
9/29. 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 = 13.986550194789keywords = atrophy (Clic here for more details about this article) |
10/29. association of spinal and bulbar muscular atrophy with myotonic dystrophy type 1.A man with spinal and bulbar muscular atrophy (SBMA) had a short (CTG)n expansion in the myotonic dystrophy protein kinase gene as well as (CAG)n expansion in the androgen receptor gene in leukocytes. The patient had the characteristic clinical findings of SBMA, but none of myotonic dystrophy type 1 (DM1). All of his three children (a son and two daughters) had the DM1 phenotype with long (CTG)n expansions. The daughters also had heterozygous long (CAG)n expansions. Postmortem examination of the patient revealed the characteristic pathological changes of SBMA as well as muscle degeneration compatible with DM1. Gene analysis of the organs disclosed unstable long expansions of the (CTG)n repeats, in contrast to the stable (CAG)n expansions. We have assumed that SBMA and DM1 developed independently in our patient, but cannot exclude the possibility that interactive gene effects increased somatic instability.- - - - - - - - - - ranking = 69.932750973945keywords = atrophy (Clic here for more details about this article) |
| | Next -> |