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11/87. Pontocerebellar hypoplasia type 2 and Reye-like syndrome.

    Pontocerebellar hypoplasia is an autosomal recessive syndrome with onset during the fetal period. Two subtypes of pontocerebellar hypoplasia have been described on the basis of clinical and neuropathologic criteria. Pontocerebellar hypoplasia type 2 is characterized by progressive microcephaly, early onset of extrapyramidal dyskinesia, and near absence of motor and cognitive development, without signs of either spinal or peripheral involvement. We report a clinical observation of a patient with pontocerebellar hypoplasia type 2, a 3-year-old girl with progressive microcephaly, dystonic limb movements, and absence of motor and cognitive development. Cranial magnetic resonance imaging revealed pontocerebellar hypoplasia. At the age of 2 years, she suffered a Reye-like syndrome that worsened her condition. Differential diagnosis was established with intrauterine injuries, other malformative syndromes, and neurodegenerative or neurometabolic disorders, which can be associated with cerebellar hypoplasia. ( info)

12/87. Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa.

    Pontocerebellar hypoplasia type 2 (PCH2) is a very rare autosomal recessive disorder. We report two unrelated female patients born to consanguineous parents presenting with this condition. Patient 1 showed a classical clinical/neuroradiological phenotype of PCH2 with dyskinesia/dystonia. Patient 2 had a neonatal onset of PCH2 with polyhydramnios, apneic spells, myoclonus, and an akinetic/rigidity condition. Neuroradiologically, patient 2 showed extensive pancerebral degeneration. Based on these observations, and in accordance with the published cases, two groups of PCH2 patients may be defined: (a) patients with dyskinesia/dystonia, severe hypoplasia of the infratentorial structures and less severe involvement of the supratentorial brain; and (b) patients with polyhydramnios, neonatal onset with tremulousness (hyperekplexia), no spontaneous activity, absence of dyskinesia and pancerebral degeneration. Finally, we report a dramatic positive response of the patient with dyskinesia/dystonia to levodopa treatment, and discuss the associated physiopathological implications. ( info)

13/87. Unusual association of sporadic olivopontocerebellar atrophy and motor neuron disease.

    Sporadic olivopontocerebellar atrophy (OPCA) is a neurodegenerative disorder that presents a wide clinical spectrum. motor neuron disease (MND) is characterized by a selective degeneration of motor neurons. A 60-year-old man developed slurred speech and unsteadiness of gait. He had also noticed difficulty in holding his head upright and shoulder weakness. The disease had a rapid progression. At the age of 63 years, magnetic resonance imaging supported a diagnosis of OPCA, and a diagnosis of MND was suggested by clinical and electrophysiological findings. He also had upward gaze palsy. A muscular biopsy showed sporadic ragged red and Cox deficient fibers. The present case could define a unique disorder, as the occasional occurrence of two degenerative disorders appears unlikely. ( info)

14/87. Bilateral high-frequency synchronous discharges: a new form of tremor in humans.

    OBJECTIVES: To report bilateral high-frequency synchronous discharges in a patient with a sporadic form of olivopontocerebellar atrophy; to investigate the electromyographic pattern, the coherence and cospectral density across limbs, and the resetting effects of electrical stimulation over the posterior fossa; and to highlight the clinical, electrophysiologic, and radiologic features of this new form of tremor associated with posterior fossa disorders. DESIGN: Case study of a patient clinically exhibiting a sporadic form of olivopontocerebellar atrophy associated with cerebellar and brainstem atrophy. SETTING: research unit, university hospital. MAIN OUTCOME MEASURES: Electromyographic studies, coherence and cospectral density analysis, and calculation of a resetting index based on the timing of measured bursts and predicted bursts for an electrical stimulus given over the posterior fossa at increasing delays. RESULTS: Surface electromyographic recordings in forearm muscles revealed a low-frequency postural tremor in the upper limbs, with episodes of highly coherent tremor at a frequency of 14 Hz. Squared coherence and cospectral density was strong between agonist and antagonist muscles in the left and right upper limbs and across limbs for the high-frequency discharges. Electrical stimulation over the posterior fossa reset the explosive high-frequency bursts. The resetting index was 0.82 Hz. CONCLUSIONS: Our results show that bilateral high-frequency synchronous discharges may be associated with the sporadic form of olivopontocerebellar atrophy. Bilateral coherent bursting and resetting of this explosive postural tremor following electrical stimulation over the posterior fossa strongly suggest that the brainstem plays a key role in the network involved in the genesis of rhythmic bursts. We suggest that the high-frequency discharges are due to repetitive discharges in the reverberating cerebello-precerebellar circuits. ( info)

15/87. Clinical effects of elastic bandage on neurogenic orthostatic hypotension.

    Neurogenic orthostatic hypotension (OH) often causes troublesome symptoms such as dizziness, syncope and falling, interfering active daily life or various therapies in rehabilitation. Nonpharmacologic measures for treating patients with OH include wearing elastic leotard, head-up tilting at night, etc. Elastic garment or antigravity suits is certainly effective, but it may be uncomfortable and not practical. Although elastic bandage (EB) bound on the lower limbs has been thought to be useful, there is few clinical report about its beneficial evidence. We investigated short-term clinical effects of commercially available EB on OH, and estimated the mechanism of its effectiveness by measuring some blood pressure-related humoral variables in neurodegenerative patients with OH. ( info)

16/87. Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome.

    The carbohydrate-deficient glycoprotein (CDG) syndrome in its most severe form (neonatal olivopontocerebellar atrophy) is a life-threatening multisystem disease. We report a neonate who was referred for cardiological assessment because of respiratory distress, a murmur and episodes of desaturation. After initial spontaneous improvement he presented at 9 weeks with evidence of a severe hypertrophic obstructive cardiomyopathy (HOCM). The diagnosis of CDG syndrome was suggested by the characteristic dysmorphic features, hypotonia, visual inattention and severe failure to thrive; it was confirmed by electrophoresis of serum transferrin. HOCM can be a feature of the CDG syndrome, in addition to the (previously reported) pericardial effusions. ( info)

17/87. Clear cell carcinoma of the lung--a case report.

    Clear cell carcinoma of the lung is a rare entity. We report the first case seen locally. The patient is symptomatic, presenting with a large pulmonary tumour. Histologically, there were clusters of large tumour cells with ample clear cytoplasm and absence of mucin, glandular and squamous differentiation. urine analysis, blood carcinoembryonic antigen level and abdominal CT scan were normal. ( info)

18/87. magnetic resonance imaging of degenerative diseases of the central nervous system.

    MRI enables a better assessment than CT of the bulk loss, i.e. atrophy, which is a characteristic feature of all the degenerative diseases of CNS, at least in their advanced phases. Moreover, in several of these disorders, proton density, balanced and T2 weighted MR images can show symmetric areas of abnormally low or high signal intensity in the deep gray nuclei or white matter. Since these signal abnormalities are not specific of degenerative diseases of the CNS, their shape and distribution have to match those of the histopathological changes characteristic of each disease, before they could represent useful ancillary signs. Combination of the above MRI findings with appropriate clinical and laboratory features will however be crucial to the diagnosis in any single case. ( info)

19/87. Upper airway dysfunction in olivopontocerebellar atrophy.

    We report the findings in a patient known to have olivopontocerebellar atrophy who developed respiratory distress, inspiratory stridor, and maximum inspiratory and expiratory flow volume loops. Treatment with carbidopa-levodopa gave symptomatic relief. ( info)

20/87. Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs.

    This report describes the clinical and neuropathological features in male and female sibs who died shortly after birth as a result of frequent convulsions and lack of spontaneous respiratory effect. Both sibs had a prominent occiput with mild contractures and the female also had overlapping fingers and rockerbottom feet. The genetic and neuropathological findings were consistent with a diagnosis of an autosomal recessive form of olivopontoneocerebellar hypoplasia/atrophy. ( info)
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