1/126. Fatal haemorrhagic infarct in an infant with homocystinuria.Thrombotic and thromboembolic complications are the main causes of morbidity and mortality in patients with homocystinuria. However, it is unusual for thrombosis and infarction to be the presenting feature leading to investigation for homocystinuria and cerebrovascular lesions in the first year of life. We describe a previously healthy 6-month-old infant who presented with a large middle-cerebral-artery territory infarction and died of massive brain swelling. homocystinuria due to cystathionine beta-synthase (CBS) deficiency was diagnosed by metabolite analysis and confirmed by enzymatic activity measurement in a postmortem liver biopsy. homocystinuria should be considered in the differential diagnosis of venous or arterial thrombosis, regardless of age, even in the absence of other common features of the disease. We recommend systematic metabolic screening for hyperhomocysteinemia in any child presenting with vascular lesions or premature thromboembolism.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/126. "White coat effect" induced by therapist's presence during speech therapy for stroke rehabilitation: a single case study.The excessive pressor response triggered in patients by an alerting reaction to a doctor's presence has been termed the "white coat effect." A 68-year-old man with verbal apraxia after multiple lacunar infarctions was referred to the hospital for speech rehabilitation. He experienced difficulty in talking with the speech therapist during therapy sessions but not when talking with his friends or family. Because the therapist's presence was stressful to the patient, it was considered that his anxiety might produce an excessive increase in blood pressure. blood pressure monitoring was performed during 2 separate days of speech therapies consisting of two sessions each. In one session, therapy was directed by the therapist; in the other, therapy was self-directed. The therapist-directed approach substantially increased both systolic and diastolic blood pressures, whereas the self-directed therapy slightly increased only systolic pressure. It was concluded that the excessive pressor response seen in this patient during therapist-directed speech therapy resulted from the white coat effect induced by the therapist's presence.- - - - - - - - - - ranking = 73.820750963209keywords = family (Clic here for more details about this article) |
3/126. Aicardi-Goutieres syndrome: a genetic microangiopathy?Aicardi-Goutieres syndrome (AGS) (McKusick 225750) is an autosomal recessive disease with onset in the 1st year of life, resulting in progressive microcephaly, calcification of cerebral white matter, thalamus and basal ganglia, generalized cerebral demyelination and a chronic low-grade CSF lymphocytosis, without evidence of infection. We report the autopsy of a patient who died with this disorder at the age of 17 years. Findings were severe microencephaly, diffuse but inhomogeneous cerebral white matter loss with associated astrocytosis, calcific deposits in the white matter, thalami and basal ganglia. neocortex and cerebellar cortex were affected by wedge-shaped microinfarctions. Small vessels showed calcification in the media, adventitia and perivascular spaces. These findings are similar to some previous publications that in retrospect may have been AGS, but this is the first reported cerebral microangiopathy in which the diagnosis AGS was made during lifetime. This report provides evidence that microangiopathy plays a significant role in the pathogenesis of AGS.- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
4/126. Post-stroke mania late in life involving the left hemisphere.OBJECTIVE: Although post-stroke depression is well recognised, post-stroke mania has rarely been reported and researched. Most reported cases have involved lesions of the non-dominant hemisphere. We report a case of late-onset mania following stroke with a lesion in the dominant hemisphere. CLINICAL PICTURE: A 78-year-old, right-handed man developed sudden cognitive deficits and manic symptoms. Investigations revealed lesions in the dominant hemisphere. TREATMENT: Pharmacological intervention was complicated by side effects. OUTCOME: His symptoms resolved gradually over 2 months and he was back to normal in 4 months. CONCLUSIONS: We would encourage further study in the area of post-stroke mania and especially in relation to the site of the lesion in the brain.- - - - - - - - - - ranking = 4keywords = life (Clic here for more details about this article) |
5/126. Vasculopathic changes of cadasil can be focal in skin biopsies.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil) is a newly described cause of vascular dementia. Pathologic examination shows multiple small infarcts in the deep cerebral white matter together with a nonatherosclerotic, nonamyloid angiopathy involving the media of small cerebral arteries. Ultrastructurally, characteristic granular material is present in the basal lamina of vascular smooth muscle cells in cerebral and extracerebral blood vessels. The ultrastructural changes have also been demonstrated in skin biopsies of affected patients; consequently, some investigators have recently recommended skin biopsies for the diagnosis of cadasil. This study describes a 54-year-old male with a family history for strokes who had clinical and radiological features suggestive of cadasil. A skin biopsy was performed to confirm the diagnosis. Initially, the characteristic vasculopathic changes of cadasil were not identified within small blood vessel walls. However, multiple deeper sections in other areas showed electron-dense material associated with vascular smooth muscle cells, characteristic of cadasil. Subsequent genetic testing demonstrated a single nucleotide substitution at position 659 on chromosome 19p13.1 causing an amino-acid change (Cys --> Phe), a finding indicative of cadasil. The involvement of blood vessels within the dermis makes skin biopsy a useful adjunct in the diagnosis of cadasil. However, as illustrated by this case, the findings may be focal, requiring a thorough evaluation of the entire biopsy specimen.- - - - - - - - - - ranking = 73.820750963209keywords = family (Clic here for more details about this article) |
6/126. Papillary fibroelastoma: increasing recognition of a surgical disease.Papillary fibroelastomas are uncommon benign tumors usually involving the heart valves, which historically have been diagnosed at autopsy. With the advent of echocardiography, however, the number of patients diagnosed in life has increased. Papillary fibroelastomas represent a surgically treatable cause of cerebrovascular and cardiovascular ischemia and infarction making their identification clinically important. We report three unusual cases of papillary fibroelastoma; two patients presenting with symptoms of cerebrovascular ischemia and one presenting with myocardial infarction. We also present a comprehensive review of the literature and provide a compilation of all case reports to date.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
7/126. Decompressive craniotomy in medically uncontrollable malignant infarction.patients with progressive neurological deficit following large cerebral infarctions are viewed to have a uniformly poor prognosis. We present two patients with large middle cerebral artery infarctions in which a decompressive craniotomy was life saving and resulted in functional outcome. The clinical course of patients with malignant infarction and the treatment issues involved including patient selection and the timing and extent of cranial decompression are discussed.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
8/126. Periventricular haemorrhagic infarct in a preterm neonate.magnetic resonance imaging (MRI) was performed on an infant born, at 28 weeks gestational age who suffered a sudden episode of bradycardia and desaturation on the 3rd day of life. Imaging demonstrated bilateral germinal layer haemorrhage and intraventricular haemorrhage, with parenchymal involvement in a fan-shaped pattern in the periventricular white matter on the left. These appearances are consistent with a combination of intravascular thrombi and perivascular haemorrhage along the course of the medullary veins. We believe that this is the first report of the MRI appearance of an acute periventricular haemorrhagic infarct associated with a germinal layer haemorrhage/intraventricular haemorrhage in a preterm neonate.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
9/126. A "cure" for chronic combat-related posttraumatic stress disorder secondary to a right frontal lobe infarct: a case report.A 48-year-old combat veteran sustained a right frontal cerebral infarct at the age of 45 years. The patient's family reports that prior to the infarct he had a preoccupation with memories of combat, as well as nightmares, avoidance of reminders, and multiple arousal symptoms. Since his recovery from the infarct, the patient and his family continue to relate significant arousal symptoms but deny any continued history of preoccupation with traumatic memories, reminder avoidance, or nightmares. The resolution of a limited number of symptoms in this patient following damage to the right frontal cortex suggests that some of the symptoms of posttraumatic stress disorder may be amenable to current biological interventions.- - - - - - - - - - ranking = 147.64150192642keywords = family (Clic here for more details about this article) |
10/126. cerebrovascular disorders in children with the factor v Leiden mutation.Since 1995, at least 128 children with a cerebrovascular disorder, cerebral palsy, or both and the factor v Leiden mutation have been reported. The majority of these strokes were in the first year of life, many of them in the perinatal period. Two thirds had an additional exogenous risk factor for thrombosis, and 42% had another recognized endogenous prothrombotic risk factor in combination with the mutation. We review the association of the factor v Leiden mutation and a cerebrovascular disorder in children younger than 16 years of age and describe the clinical features of 8 children with cerebral palsy and the Leiden mutation. This mutation should be considered in the evaluation of children with a stroke or its sequelae, including infants with perinatal stroke.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
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