1/22. A case of Lafora's disease associated with cardiac arrhythmia.Progressive myoclonic epilepsies are rare, genetically transmitted diseases characterized by epileptic seizures, myoclonus, and progressive neurologic deterioration. Unverricht-Lundborg disease, Lafora's disease, neuronal ceroid lipofuscinosis, mitochondrial disorders, and sialidosis are included in this group. Lafora's disease is a progressive disorder of the central nervous system with onset in the late first or second decade of life and is inherited in an autosomal-recessive pattern. The first clinical manifestation is generalized tonic-clonic seizures, myoclonus, or both, usually seen between the ages of 11 and 18 years. The other clinical manifestations are progressive dementia and limb ataxia. diagnosis is based on showing the typical inclusions in the brain, liver, skin, or muscle tissue specimens. The case of a 6-year-old male patient, who was admitted with the clinical findings of third-degree atrioventricular block and dementia and eventually diagnosed with Lafora's disease, is presented.- - - - - - - - - - ranking = 1keywords = brain, stem (Clic here for more details about this article) |
2/22. An established case of dentatorubral pallidoluysian atrophy (DRPLA) with unusual features on muscle biopsy.Dentatorubral pallidoluysian atrophy (DRPLA) belongs to the group of autosomal dominant ataxias. central nervous system pathology and inheritance are both well characterized, although the illness is rare. The presentation of a European child affected by this illness is described. He presented at 9 years of age with intractable progressive myoclonus epilepsy against a background of learning difficulties and developed progressive hypertonicity and dementia before his death at 15 years of age. Significant histological changes in a muscle biopsy were found. There was an absence of type IIB fibres and a predominance of type I fibres. Mean fibre diameter of all the fibre types was markedly reduced. All type I fibres showed an increase in lipid droplets. No previous descriptions exist of muscle histology in DRPLA. Although at least five adult family members have symptoms consistent with a diagnosis of DRPLA, their condition had not been recognized. We therefore describe the clinical picture and histological findings.- - - - - - - - - - ranking = 0.072456019731035keywords = stem (Clic here for more details about this article) |
3/22. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.BACKGROUND: The genetic basis of most common forms of human paroxysmal disorders of the central nervous system, such as epilepsy, remains unidentified. Several animal models of absence epilepsy, commonly accompanied by ataxia, are caused by mutations in the brain P/Q-type voltage-gated calcium (Ca(2 )) channel. We aimed to determine whether the P/Q-type Ca(2 ) channel is associated with both epilepsy and episodic ataxia type 2 in human beings. methods: We identified an 11-year-old boy with a complex phenotype comprising primary generalised epilepsy, episodic and progressive ataxia, and mild learning difficulties. We sequenced the entire coding region of the gene encoding the voltage-gated P/Q-type Ca(2 ) channel (CACNA1A) on chromosome 19. We then introduced the newly identified heterozygous mutation into the full-length rabbit cDNA and did detailed electrophysiological expression studies of mutant and wild type Ca(2 ) channels. FINDINGS: We identified a previously undescribed heterozygous point mutation (C5733T) in CACNA1A. This mutation introduces a premature stop codon (R1820stop) resulting in complete loss of the C terminal region of the pore-forming subunit of this Ca(2 ) channel. Expression studies provided direct evidence that this mutation impairs Ca(2 ) channel function. Mutant/wild-type co-expression studies indicated a dominant negative effect. INTERPRETATION: Human absence epilepsy can be associated with dysfunction of the brain P/Q-type voltage-gated Ca(2 ) channel. The phenotype in this patient has striking parallels with the mouse absence epilepsy models.- - - - - - - - - - ranking = 5.6377199013448keywords = brain, stem (Clic here for more details about this article) |
4/22. Metastatic brainstem tumor manifesting as hearing disturbance--case report.A 53-year-old male, who had undergone a left upper lung lobectomy for cancer 2 years previously, presented with metastatic brainstem tumor manifesting as hearing disturbance. At first an otorhinolaryngologist treated him for senile sensorineural hearing disturbance. However, he suffered gait ataxia and was referred to our department. On admission, neurological examination found mild cerebellar ataxia on the left and gait unsteadiness. Neurootological analysis revealed central-type sensorineural hearing disturbance on the left both in the pure tone audiogram and speech discrimination test. neuroimaging studies revealed a ring-like enhanced mass centered in the ventral left middle cerebellar peduncle, partly extending to the inferior cerebellar peduncle. Peritumoral edema extending to the ipsilateral cochlear nucleus was recognized. He underwent surgery via a left lateral suboccipital transcondylar approach. The histological diagnosis was adenocarcinoma identical with the primary lung cancer. Intra-axial brainstem metastatic lesion can be a cause of hearing disturbance, so should be included in the differential diagnosis for a patient complaining of hearing disturbance, especially with a past history of cancer.- - - - - - - - - - ranking = 6keywords = brain, stem (Clic here for more details about this article) |
5/22. The clinical and MRI correlate of ischaemia in the ventromedial midbrain: Claude's syndrome.The eponymous syndrome of Claude is caused by a lesion of the red nucleus and adjacent third nerve nucleus, resulting in the combination of an ipsilateral oculomotor palsy and contralateral ataxia. The MRI correlate of this syndrome has only occasionally been described. We present three cases with MRI findings which confirm the association of this clinical syndrome with infarction of the ventromedial midbrain. The coexistence of hypertension and small vessel ischaemia in two cases suggests this type of infarct may arise as a result of small vessel disease.- - - - - - - - - - ranking = 166.28238145207keywords = midbrain, brain (Clic here for more details about this article) |
6/22. quadruplets hydatid cysts in brain ventricles: a case report.An 18-year-old male patient with a hepatic hydatic cyst was admitted with cephalgia and gait disturbances. Radiological examination showed a cystic lesion in his liver and four cystic masses, 2-8 mm in diameter, in the right lateral brain ventricle. All cysts were removed without rupture by way of a right transparietal-transventricular approach, using an ellipsoid forceps designed by ourselves. albendazole was given postoperatively. Postoperative outcome was excellent in this case except for transient left hemiparesis. To our knowledge, this is the first case of four hydatid cysts in the lateral brain ventricle.- - - - - - - - - - ranking = 5.5652638816138keywords = brain (Clic here for more details about this article) |
7/22. paraneoplastic cerebellar degeneration and nephrotic syndrome preceding Hodgkin's disease: case report and review of the literature.A patient presented with symptoms of cerebellar degeneration and nephrotic syndrome. A work-up at that time failed to reveal an underlying disease; however, 20 months later Hodgkin's disease was diagnosed. Hodgkin's lymphadenopathy developed 2 wk after prednisone therapy for the nephrotic syndrome had been discontinued. Systemic polychemotherapy resulted in complete remission of both Hodgkin's disease and nephrotic syndrome, while the neurological deficit persisted. patients with unexplained cerebellar degeneration and/or nephrotic syndrome demand extensive evaluation for the presence of Hodgkin's disease, and steroid therapy may delay diagnosis.- - - - - - - - - - ranking = 0.072456019731035keywords = stem (Clic here for more details about this article) |
8/22. Imaging of bilateral striopallidodentate calcinosis.Bilateral symmetric striopallidodentate calcinosis, also known as Fahr's disease, is characterized by bilateral calcifications of the basal ganglia, thalami, dentate nuclei of the cerebellum, and the white matter of the cerebral hemisphere. Intracranial calcifications are easily visible as high-density areas on computed tomographic images. On magnetic resonance images, the calcifications exhibit different signal intensities. The differences in signal intensity are thought to be related to the stage of the disease, differences in calcium metabolism, and the volume of the calcium deposit. The moderate reduction of cerebral blood flow in bilateral thalami was also identified using brain SPECT.- - - - - - - - - - ranking = 0.92754398026897keywords = brain (Clic here for more details about this article) |
9/22. Cutaneous stimulation improves function of a chronic patient with cerebellar damage.The prognosis of cerebellar hemorrhage with brain stem compression is known to be poor, and patients who can usually survive are severely disabled with limited benefit from conventional rehabilitation. An innovative cutaneous stimulation was administered to a chronic patient (2 years after the incidence) who has severe ataxia, gait imbalance and limb spasticity caused by cerebellar hemorrhage. After 8 months of intervention, patient's function as evaluated by two functional measures has improved by 40%. In addition, the patient's ataxia and hypotonia have improved significantly in which he has regained the abilities to grasp objects, sit upright, control his equilibrium, and monitor an electric wheelchair. The present case study demonstrated a significant improvement of a chronic severely disabled patient who received the intervention 2 years after the accident, suggesting that the cutaneous stimulation may be a possible effective neurologic intervention.- - - - - - - - - - ranking = 6.1309956627872keywords = brain stem, brain, stem (Clic here for more details about this article) |
10/22. A juvenile case of cerebellar arteriovenous malformation (AVM) with gradual onset of headache and ataxia.An 11-year-old male was admitted because of frequent vomiting and truncal ataxia which had lasted for over one week. He had clear consciousness but slowly-progressive mild headache and ataxic gait. Cranial CT revealed a 4 cm hematoma in the right cerebellar hemisphere. angiography showed a 2 x 2 cm nidus of a pial arteriovenous malformation (AVM) in the right hemisphere fed from the right posterior inferior cerebellar artery and draining into the inferior hemispheric vein. We performed a surgical resection of the AVM after decompression therapy to counteract the brain edema. He recovered completely without any neurological deficits. This case suggests that cerebellar hemorrhage caused by AVM should be considered as a possible diagnosis when mild symptoms of headache and ataxia proceed gradually.- - - - - - - - - - ranking = 0.92754398026897keywords = brain (Clic here for more details about this article) |
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