1/11. Subependymal giant cell astrocytoma: clinical and neuroimaging features of four cases.The clinical history, neuroimaging features, treatments, and outcome of 4 patients with histologically verified subependymal giant cell astrocytomas (SEGA) were retrospectively reviewed. The average age at the time of surgery was 13.3 years. headache related to raised intracranial pressure was the first and only sign in 2 patients, with the remaining 2 being admitted because of sequential neuroimaging studies over several years revealing the growth of 'subependymal nodules' into intraventricular tumours. In each case the tumour was in the region of Monro's foramen and was associated with ventricular dilatation. On computed tomography (CT), multiple subependymal nodules were found in 3 patients, and these well circumscribed isodense SEGAs were markedly enhanced by contrast medium. On magnetic resonance imaging (MRI), which was obtained in 3 patients, 2 SEGAs were isointense with the cerebral cortex and one with the white matter on T1-weighted images, and on T2-weighted images, 2 were isointense with the cortex and one with the white matter. At surgery the tumours appeared to originate from the inferolateral wall of the lateral ventricle in the region of the head of the caudate nuclei. Total macroscopic removal was achieved in 3 patients, and subtotal removal in one patient. Follow up ranged from 4.6 to 13.2 years, and all patients have exhibited similar physical and mental conditions to preoperative. So far there has been no evidence of any recurrences. The diagnosis and the surgical indications for SEGA are discussed, with periodic monitoring with neuroimaging studies being recommended even for asymptomatic patients with 'subependymal nodules'.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/11. insulinoma in a patient with tuberous sclerosis: is there an association?OBJECTIVE: To describe a patient with tuberous sclerosis who, on initial assessment, had neurologic symptoms, which were ultimately found to be caused by an insulinoma. methods: We present a case report with clinical, laboratory, and radiologic data. The literature is reviewed relative to tuberous sclerosis and islet cell tumors, and a possible association is discussed. RESULTS: A 43-year-old man with a history of tuberous sclerosis required medical attention because of mental confusion and slurred speech and was found to have hypoglycemia. Neuroradiologic imaging showed no new lesions to account for his symptoms. His physical examination was striking for a large abdominal mass, which showed increased uptake on octreotide scanning. After surgical resection, the mass measured 21 cm and was found to be an insulinoma. blood glucose values were normal postoperatively and on follow-up, and the patient had no recurrence of the symptoms. CONCLUSION: From this report, we emphasize two findings. First, we draw clinicians' attention to the possibility of an association between islet cell tumors and tuberous sclerosis and suggest consideration of this diagnosis in patients with tuberous sclerosis who have new or worsening neurologic symptoms. Second, the insulinoma we describe is, to our knowledge, the largest to be reported thus far in the literature.- - - - - - - - - - ranking = 9.1537017822266keywords = physical examination, physical (Clic here for more details about this article) |
3/11. Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl.Neurofibromatosis type 1 and tuberous sclerosis are the two most common neurocutaneous disorders in humans. Both are transmitted as autosomal dominant conditions with a high rate of new mutations and similar clinical features. However, the two disorders have distinct and well-delineated genetic, biochemical, and physical findings. Simultaneous occurrence of these two conditions is rare. We report on a young girl who inherited both disorders, review similar cases reported in the world literature, and discuss possible implications of the presence of NF1 and TSC in the same individual.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/11. Solitary retinal astrocytoma.Astrocytic hamartomas are typically white, well-circumscribed, elevated lesions arising in single or multiple areas of the retina and epi- or peripapillary optic nerve. These lesions are most commonly associated with tuberous sclerosis and less commonly associated with neurofibromatosis. However, solitary retinal or optic nerve astrocytomas can be found in normal individuals. This paper reviews the case of a 48-year-old white female who presented with a solitary retinal astrocytoma of the right eye, without any other physical or ocular disorder. The histopathological and clinical appearance and course of astrocytomas, its differential diagnosis from other retinal and optic nerve lesions, and its association with tuberous sclerosis are discussed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/11. epilepsy and psychosis--ask the family.Psychotic episodes and epilepsy can occur without mental retardation in tuberous sclerosis. The diagnosis may depend on elucidating the family history since physical signs may not be obvious. Establishing the diagnosis makes genetic counselling possible.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/11. Polycystic kidneys as the presenting feature of tuberous sclerosis.tuberous sclerosis is an inherited neurocutaneous disorder characterized by seizures, mental retardation, cutaneous lesions and visceral hamartomas. We describe a 17-year-old boy in whom polycystic kidneys of the adult type were fortuitously detected on routine check-up. The patient enjoyed good health and had no evidence of renal dysfunction. Closer scrutiny of his past history and his physical and laboratory findings disclosed that he had tuberous sclerosis. Our case adds to the scant reported experience with the association of tuberous sclerosis and adult-type polycystic kidneys, and suggests that a search of additional manifestations of tuberous sclerosis is warranted in children in whom adult-type polycystic renal disease is detected.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/11. Gaining new understanding of tuberous sclerosis.Although tuberous sclerosis is associated severe learning disability, it is also a physical disorder with growths that affect any part of the body. Recent genetic research explains the diversity of the condition. The behavioural phenotype of tuberous sclerosis has shown the autism and attention deficit disorder associated with the brain lesions.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/11. tuberous sclerosis complex: a review with a study of eight cases.This paper reviews the subject of tuberous sclerosis complex and presents data in eight cases of this condition, admitted to Hospital Universiti Sains malaysia over a period of 8.5 years. The average age at presentation was 53 months. seizures were the most common presenting feature. Male to female ratio was 3:1. family history was present in four patients. All of the patients had one or more skin lesions. Six of them had retinal in six patients. Two patients had renal angiomyolipomas. A high index of hamartomas. Cardiac tumours were found in two patients. Multiple subependymal hamartomas were detected in six patients. Two patients had renal angiomyolipomas. A high index of suspicion and a detailed physical examination is required to diagnose this rare disorder.- - - - - - - - - - ranking = 9.1537017822266keywords = physical examination, physical (Clic here for more details about this article) |
9/11. Phenotypic variation of tuberous sclerosis in a single extended kindred.tuberous sclerosis complex (TSC) is an autosomal dominant disorder with a great degree of phenotypic variability. Given the presence of two gene loci underlying this disorder, locus heterogeneity may account for some of the variability. However, significant within family variation suggests that different genes do not explain the majority of this variation. The purpose of this research is to identify physical and behavioural variation in expression of TSC in a single large extended kindred. TSC in this kindred is cosegregating with markers localised to chromosome 16p13.3. The expression of TSC in this kindred is quite variable with a substantial proportion of persons showing very mild physical expression of TSC. In contrast to very mild physical expression of TSC in some family members, there is a significant clustering of psychiatric disorders among persons affected with TSC compared to their unaffected relatives. This finding, coupled with the mild physical expression of TSC in some family members, supports a hypothesis that the TSC2 gene may present phenotypically as mild skin signs and significant behavioural problems.- - - - - - - - - - ranking = 4keywords = physical (Clic here for more details about this article) |
10/11. Surgical treatment of infantile cardiac tumor: report of a case.We herein report on a male infant who was diagnosed as having a cardiac tumor at the age of four days. This baby was quite well after birth, with the exception of a heat murmur heard by the pediatrician in a routine physical examination. Echocardiograms disclosed a tumor located in the muscular portion of the interventricular septum, almost occupying the whole right ventricular chamber. The patient underwent near total excision of the tumor to relieve the right ventricular outflow obstruction when he was 54 days old. The pathologic report revealed a rhabdomyoma.- - - - - - - - - - ranking = 9.1537017822266keywords = physical examination, physical (Clic here for more details about this article) |
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