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1/69. prenatal diagnosis of fatal infantile olivopontocerebellar hypoplasia syndrome.

    We report the first case of prenatal diagnosis of fatal infantile olivopontocerebellar hypoplasia syndrome, OMIM 225753. Ultrasound findings noted at 28 weeks' gestation included polyhydramnios, a small stomach bubble, a small but morphologically normal cerebellum, dilatation of the fourth ventricle, and long periods of normal fetal movement punctuated by sudden bursts of violent seizure-like activity of the fetal extremities. At birth, the child was noted to be hypertonic, myoclonic, hyper-reflexic, demonstrated poor gastrointestinal motility, and had severe apneic episodes. magnetic resonance imaging (MRI) demonstrated marked hypoplasia or atrophy of the cerebellum, pons and medulla, mild atrophy of the cerebral cortex, and mild ex vacuo venticulomegaly of the fourth, third and lateral ventricles. This child died from respiratory insufficiency at 14 days of age. The parents of this child had previously lost a child with similar clinical and anatomical findings. Prenatal sonographers should be aware of the existence of this rare syndrome and should look carefully at the size of the cerebellum in cases of polyhydramnios or when in utero 'seizure-like' activity is seen. The importance of establishing this diagnosis lies in the fact that it appears to have a very poor postnatal prognosis and is likely to be inherited as an autosomal recessive disease.
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2/69. A case of spinocerebellar ataxia type 6 mimicking olivopontocerebellar atrophy.

    Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant, slowly progressive cerebellar ataxia without multisystem involvement. We report a 57-year-old woman with genetically confirmed SCA6 who showed clinical features of olivopontocerebellar atrophy. Conventional T2-weighted and FLAIR MRI demonstrated high signal in the middle cerebellar peduncles, in addition to mild atrophy of the pons and cerebellum.
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3/69. A case of nocturnal polyuria in olivopontocerebellar atrophy.

    We report a case of olivopontocerebellar atrophy without sleep apnea syndrome who presented nocturnal polyuria. It is considered that a disturbance in the circadian rhythm for arginine vasopressin secretion due to degeneration of suprachiasmatic nuclei and marked increase in the secretion of atrial natriuretic peptide due to abnormal diurnal variation in blood pressure may be involved in the mechanism of nocturnal polyuria.
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keywords = atrophy
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4/69. Disappearance of rhythmic involuntary movements during sleep in a case of olivopontocerebellar atrophy.

    We report on a 54-year-old woman with an 8 or so year history of olivopontocerebellar atrophy associated with the rhythmic involuntary movements of the left upper and lower limbs, and cervical region. Surface electromyogram of the left upper limb revealed rhythmicity (about 3 Hz) and reciprocity between antagonistic muscles, which disappeared on polysomnography at all sleep stages including rapid eye movement sleep without atonia. These were characterized by the co-existence of rhythmic skeletal myoclonus and parkinsonian tremor. These findings suggest that a disturbance of the striatonigral system as well as the dentato-rubro-olivary circuit may be involved in these movements. It also seems that their fate is dependent on the level of wakefulness and that the ascending reticular activating system also plays a role in the development of these movements.
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5/69. Familial pontocerebellar hypoplasia type I with anterior horn cell disease.

    We report the association of pontocerebellar hypoplasia and anterior horn cell disease in three female siblings. One child presented with the classical clinical and neuropathological features of pontocerebellar hypoplasia with associated anterior horn cell disease, described by Barth as pontocerebellar hypoplasia type I. This patient showed polyhydramnios, congenital contractures, respiratory insufficiency, hypotonia, areflexia, listlessness and myoclonic seizures. Postmortem examination revealed a loss of neurons and reactive gliosis in the pontocerebellum and in addition anterior horn cell atrophy resembling Werdnig-Hoffmann disease. Another sibling demonstrated the same clinical symptoms. However neuropathological findings showed evidence for pontocerebellar hypoplasia only. The third sibling was examined after induced fetal abortion because of prenatally diagnosed arthrogryposis. Anterior horn cell disease was obvious histologically whereas pontocerebellar hypoplasia could not be demonstrated due to cerebral autolysis. The similar clinical and neuropathological findings in the three reported siblings suggest a common genetic defect with different patterns of pontocerebellar hypoplasia and associated anterior horn cell disease. The gene defect of this rare disorder is still unknown. The 'survival motor neuron' gene of spinal muscular atrophy was not found in these three siblings.
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6/69. Olivopontocerebellar atrophy: paraneoplastic syndrome of brain tumour?

    We describe a patient who, three years after the onset of an olivopontocerebellar atrophy, developed a right cerebral tumour. The cerebellar symptomatology also included, as in other cerebellar patients previously described, a peripheral dysgraphia. Because this deficit of writing is generally reported in patients with right cerebral lesion, the authors hypothesized that functional alterations of supratentorial structures preceding the tumour by years may be able to damage the neural substrates connecting cerebral and cerebellar structures and to produce cerebellar atrophy.
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7/69. fatal outcome in a case of pontocerebellar hypoplasia type 2.

    Pontocerebellar hypoplasia (PCH) is a very rare congenital (autosomal recessive) condition with fetal onset. Only a few cases have been published on the basis of both clinical data (symptoms/neuroradiological imaging) and autopsy results. This paper reports on such a case involving a 1.5-year-old male infant. The child suffered from severe psychomotor delay, extrapyramidal dyskinesia and epileptic seizures, but did not exhibit signs of spinal muscular atrophy as related to PCH type 1. magnetic resonance imaging (MRI) at the age of 6 months demonstrated olivo-pontine and bilateral cerebellar hypoplasia. The boy was unexpectedly found dead. autopsy disclosed a severe aspiration of gastric contents as the final cause of death. The neuropathological examination confirmed PCH type 2 (according to Barth [brain Dev., 15 (1993) 411-422]) with marked microcephaly and olivopontocerebellar hypoplasia. Histologically, decreased density of olivo-pontine neurons, reduction of granular and Purkinje's cell layers of the cerebellum, slight astroglial proliferation and fragmented appearance of the dentate nuclei were observed. The immunohistochemical expression pattern was determined using antibodies against glial fibrillary acidic protein, synaptophysin and neurofilament protein. Summarizing, typical features of PCH type 2 were present and proved by clinical course, MRI and autopsy. Despite severe symptoms due to a natural disease this rare neurogenetic entity can become of forensic interest, when sudden unexpected death occurs.
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8/69. 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.
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ranking = 2.5
keywords = atrophy
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9/69. 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.
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ranking = 2
keywords = atrophy
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10/69. 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.
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keywords = atrophy
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