1/107. 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. ( info) |
2/107. intracranial hypotension with parkinsonism, ataxia, and bulbar weakness. OBJECTIVE: To describe a case of spontaneous intracranial hypotension with a previously unreported constellation of presenting features. DESIGN: Case report. SETTING: Tertiary care center. MAIN OUTCOME AND RESULTS: We describe a patient with intracranial hypotension who presented with a parkinsonian syndrome and later development of ataxia and prominent bulbar symptomatology. headache was not a feature of her initial presentation and was only reported after repeated questioning during later evaluations. magnetic resonance imaging of the patient's head revealed findings characteristic of intracranial hypotension. An [18F]fluoro-m-tyrosine positron emission tomographic scan showed normal striatal activity, suggesting intact presynaptic nigrostriatal function. Opening pressure on lumbar puncture was reduced at 40 mm H2O. A source of cerebrospinal fluid leakage was not identified on nuclear cisternography and the patient underwent lumbar epidural blood patching, which resulted in complete resolution of her signs and symptoms as well as in a marked improvement in her imaging findings. CONCLUSIONS: The clinical spectrum of intracranial hypotension can be broadened to include parkinsonism, cerebellar ataxia, and prominent bulbar dysfunction. As with more common manifestations of the disorder, these features may resolve after appropriate treatment. ( info) |
3/107. 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. ( info) |
| myasthenia gravis is rare. When it presents unusually, making a diagnosis is doubly difficult. We present an unusual case where an 'everyday' medication unfortunately precipitated a myasthenic crisis in an unsuspecting individual. ( info) |
5/107. Foix-Chavany-Marie (anterior operculum) syndrome in childhood: a reappraisal of Worster-Drought syndrome. Foix-Chavany-Marie syndrome (FCMS) is a distinct clinical picture of suprabulbar (pseudobulbar) palsy due to bilateral anterior opercular lesions. Symptoms include anarthria/severe dysarthria and loss of voluntary muscular functions of the face and tongue, and problems with mastication and swallowing with preservation of reflex and autonomic functions. FCMS may be congenital or acquired as well as persistent or intermittent. The aetiology is heterogeneous; vascular events in adulthood, nearly exclusively affecting adults who experience multiple subsequent strokes; CNS infections; bilateral dysgenesis of the perisylvian region; and epileptic disorders. Of the six cases reported here, three children had FCMS as the result of meningoencephalitis, two children had FCMS due to a congenital bilateral perisylvian syndrome, and one child had intermittent FCMS due to an atypical benign partial epilepsy with partial status epilepticus. The congenital dysgenetic type of FCMS and its functional epileptogenic variant share clinical and EEG features suggesting a common pathogenesis. Consequently, an increased vulnerability of the perisylvian region to adverse events in utero is discussed. In honour of Worster-Drought, who described the clinical entity in children 40 years ago, the term Worster-Drought syndrome is proposed for this unique disorder in children. ( info) |
6/107. Delayed radiation-induced bulbar palsy mimicking ALS. We describe a patient presenting with progressive bulbar dysfunction and spasticity that clinically mimicked amyotrophic lateral sclerosis (ALS). electromyography, however, showed no evidence of denervation and revealed a rare combination of peripheral and central myokymia. We feel that this pattern of myokymia represented a marker of neural injury from remote radiation therapy. nervous system disorders resulting from therapeutic radiation are described, and potential pathophysiologic mechanisms underlying myokymia are discussed. ( info) |
7/107. 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. ( info) |
8/107. Negative pressure ventilation via chest cuirass to decrease ventilator-associated complications in infants with acute respiratory failure: a case series. Pulmonary and nonpulmonary complications of invasive positive pressure ventilation are well documented in the medical literature. Many of these complications may be minimized by the use of noninvasive ventilation. During various periods of medical history, negative pressure ventilation, a form of noninvasive ventilation, has been used successfully. We report the use of negative pressure ventilation with a chest cuirass to avoid or decrease the complications of invasive positive pressure ventilation in three critically ill infants at two institutions. In each of these cases, chest cuirass ventilation improved the patient's clinical condition and decreased the requirement for more invasive therapy. These cases illustrate the need for further clinical evaluation of the use of negative pressure ventilation utilizing a chest cuirass. ( info) |
9/107. 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. ( info) |
10/107. MRI in a patient with the Worster-Drought syndrome. We describe a patient with the Worster-Drought syndrome (congenital suprabulbar paresis), thought to be a failure of development of the corticobulbar tracts. MRI showed bilateral perisylvian cortical dysplasia. ( info) |