1/61. acromegaly: report of two patients with an unusual presentation.The presenting features of functionally active pituitary tumours depend on the specific hormone which is overproduced. growth hormone (GH) producing tumours usually present with the clinical manifestations of acromegaly due to excessive GH secretion or symptoms resulting from mass effects of the enlarging tumour. The changes in physical features and the increase in tumour size are usually insidiously slow and therefore, recognition of the disease is delayed. In this report two patients with acromegaly are described with an atypical presentation due to acute onset of symptoms. The first patient presented with central diabetes insipidus. The diagnosis acromegaly was made on physical examination. The second patient presented with a generalized seizure during sleep. On CT-scanning a large tumour protruding into the left temporal lobe connected to the pituitary gland was seen. immunohistochemistry of the tumour after partial transcranial resection confirmed the clinical diagnosis of acromegaly. At a later stage transsphenoidal resection of the pituitary tumour was performed with full recovery and without loss of pituitary function.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/61. Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.Non-specific X-linked mental retardation is a heterogeneous group of disorders with an incidence of approximately 1 in 500 males. A recently identified gene in Xq12, encoding a Rho-GTPase-activating protein, was found to be mutated in individuals with mental retardation. We describe here two sisters with a 46,XY karyotype and a microdeletion of the oligophrenin-1 gene and 1.1 Mb of flanking dna. We have characterised the molecular interval defining this microdeletion syndrome with the fibre-FISH technique. A visual physical map of 1.2 Mb was constructed which spans the oligophrenin-1 gene and the androgen receptor gene. The analysis of the patients revealed a deletion which extended from the 5' end of the AR gene to a region approximately 80 kb proximal to the EPLG2 gene. The clinical manifestations of the two sisters include psychomotor retardation, seizures, ataxia, hypotonia and complete androgen insensitivity. Cranial MRI scans show enlargement of the cerebral ventricles and cerebellar hypoplasia. Our findings give further support for the involvement of the oligophrenin-1 gene in specific morphological abnormalities of the brain which is of importance in the investigation of male patients presenting with mental retardation. In combination with our results from physical mapping we suggest that a region around the oligophrenin-1 locus is relatively bereft of vital genes.- - - - - - - - - - ranking = 0.4099184200846keywords = physical (Clic here for more details about this article) |
3/61. Psychogenic non-epileptic seizures: can we make a positive diagnosis?Many disorders other than epilepsy are characterized by paroxysmal events. Psychogenic non-epileptic seizures (NES) form one differential diagnostic group which mimic epileptic phenomena and are caused by various psychic disorders. The diagnosis of NES is mostly based on the exclusion of epilepsy. We review the histories of six patients, who were hospitalized in an epilepsy unit and were diagnosed as having psychogenic NES. Most of them had been previously given the diagnosis of epilepsy. It is suggested that for accurate diagnosis it is very important that a patient initially undergoes psychiatric assessment along with standard diagnostic procedures (e.g. neurologic, psychological and physical investigations), that may encourage making a positive diagnosis of non-epilepsy.- - - - - - - - - - ranking = 0.2049592100423keywords = physical (Clic here for more details about this article) |
4/61. trisomy 19 q.Two sibs with trisomy for the long arm of chromosome 19 are reported. The common features included flat facial profile with microcephaly, hypertelorism, ptosis, prominence of the glabella, small nose with anteverted nostrils and a characteristic fish-shaped mouth. In addition congenital heart disease, physical retardation and seizures were seen in both sibs. That tristomy 19q can be suspected clinically is emphasized.- - - - - - - - - - ranking = 0.2049592100423keywords = physical (Clic here for more details about this article) |
5/61. Focal polymicrogyria in mother and son.This 9-year-old boy was admitted at the age of 2 with a diagnosis of congenital hemiparesis while the rest of physical and neurological examination was normal. His score in the Wechsler intelligence scale was 80. Right fronto-parietal cortical dysplasia with hemisphere atrophy was evident by computerized tomography scanning and magnetic resonance imaging. The latter, also disclosed abnormal thick cortex which was interpreted as polymicrogyria or pachygyria. karyotype was normal. He had a hemifacial motor seizure at the age of 7. At the age of 8 frequent atonic or inhibitory seizures were presented. Asymmetric bilateral spike discharges with high voltage in the right hemisphere during the EEG recording were found. His mother, a 35-year-old woman (Full scale; adult intelligence scale: 85) also had congenital hemiparesis. She never had seizures and her EEG was normal. magnetic resonance imaging disclosed right fronto-parietal cortical dysplasia with ipsilateral hemisphere atrophy. karyotype was normal. Our cases should be interpreted as a familial presentation of the anomaly, probably with autosomal-dominant transmission.- - - - - - - - - - ranking = 0.2049592100423keywords = physical (Clic here for more details about this article) |
6/61. Video-EEG and ictal SPECT in three patients with both epileptic and non-epileptic seizures.We report scalp EEG and ictal SPECT findings in epileptic (complex partial) and non-epileptic seizures in three patients who experienced both types of event during presurgical investigation of medically intractable epilepsies. In all three patients, ictal SPECT showed localizing changes in cerebral blood flow during epileptic seizures, but showed no change during pseudoseizures. In two patients, the physical manifestations of the pseudoseizures were similar to those of the epileptic seizures, supporting the contention that physiological activation is unlikely to mimic ictal perfusion changes. In one patient, the EEG recording was rendered difficult to interpret by muscle artefact, while SPECT was clear and showed no change. SPECT is not a primary tool for diagnosis of pseudoseizures, but when patients undergoing presurgical investigation are injected during pseudoseizures, then SPECT is unlikely to show misleading perfusion changes due to activation effects, and may aid diagnosis where there is muscle artefact on EEG.- - - - - - - - - - ranking = 0.2049592100423keywords = physical (Clic here for more details about this article) |
7/61. central nervous system paracoccidioidomycosis. Report of a case successfully treated with itraconazol.paracoccidioidomycosis (PCM) is a primary pulmonary infection that often disseminates to other organs and systems. Involvement of the central nervous system (CNS) is rare and due to the fact that both clinical alertness and establishment of the diagnosis are delayed, the disease progresses causing serious problems. We report here a case of neuroparacoccidioidomycosis (NPCM), observed in a 55 year-old male, who consulted due to neurological symptoms (left hemiparesis, paresthesias, right palpebral ptosis, headache, vomiting and tonic clonic seizures) of a month duration. Upon physical examination, an ulcerated granulomatous lesion was observed in the abdomen. To confirm the diagnosis a stereotactic biopsy was taken; additionally, mycological tests from the ulcerated lesion and a bronchoalveolar lavage were performed. In the latter specimens, P. brasiliensis yeast cells were visualized and later on, the brain biopsy revealed the presence of the fungus. Treatment with itraconazole (ITZ) was initiated but clinical improvement was unremarkable; due to the fact that the patient was taking sodium valproate for seizure control, drug interactions were suspected and confirmed by absence of ITZ plasma levels. The latter medication was changed to clonazepam and after several weeks, clinical improvement began to be noticed and was accompanied by diminishing P. brasiliensis antigen and antibody titers. In the PCM endemic areas, CNS involvement should be considered more often and the efficacy of itraconazole therapy should also be taken into consideration.- - - - - - - - - - ranking = 0.7950407899577keywords = physical examination, physical (Clic here for more details about this article) |
8/61. Inner ear malformations and hearing loss in linear nevus sebaceous syndrome.OBJECTIVE: Linear nevus sebaceous syndrome (LNSS) is a rare disorder comprising of nevus sebaceous, seizures, and mental retardation. While extensive literature describe the dermatologic, neurologic, as well as ophthalmologic manifestations of this LNSS, otologic problems have not been previously described. The objective of this report is to describe the otologic manifestation of a patient with LNSS. methods: A child with LNSS was referred to the Otologic clinic for evaluation of hearing loss. Pertinent findings on history, physical findings, audiometric testing, and imaging studies are discussed. RESULTS: Audiometric testing showed bilateral conductive hearing loss. Computerized tomography of the temporal bone demonstrated widened internal auditory canals and dysplastic lateral semicircular canals. CONCLUSION: LNSS can be associated with hearing impairment and inner ear malformations. The evaluation of a child with LNSS should include otologic and audiologic testing.- - - - - - - - - - ranking = 0.2049592100423keywords = physical (Clic here for more details about this article) |
9/61. Hyponatremic seizures in infancy: association with retinal hemorrhages and physical child abuse?We present two cases of infants with hyponatremic seizures who had an unexpected finding of retinal hemorrhages. A review of the literature found no prior association between hyponatremic seizures and retinal hemorrhages. The retinal hemorrhages found in the first patient were a result of shaken baby syndrome (SBS) and associated with long bone fractures and a subdural hematoma. The second patient had retinal hemorrhages and cerebral edema, presumed to be a result of SBS. We suggest that children who become hyponatremic owing to neglect, lack of education, or intentional water poisoning may be at risk for other forms of child abuse. Additional research needs to be done to further elucidate the relationship between hyponatremic seizures and child abuse.- - - - - - - - - - ranking = 0.8198368401692keywords = physical (Clic here for more details about this article) |
10/61. exercise induced hypoglycaemic hyperinsulinism.BACKGROUND: hyperinsulinism in childhood is often caused by genetic defects involving the regulation of insulin secretion leading to recurrent episodes of hypoglycaemia. We report two patients with exercise induced hypoglycaemia. methods: Standardised short exercise tests with frequent blood glucose and plasma insulin measurements were performed in the patients and young healthy controls. RESULTS: Short term exercise resulted in insulin induced hypoglycaemia 15 to 50 minutes after the end of exercise. A massive burst of insulin secretion was observed within a few minutes of the start of exercise in both patients. By contrast glucose and insulin concentrations remained unchanged in healthy controls. CONCLUSIONS: Hyperinsulinaemic hypoglycaemia after moderate physical exercise represents a rarely described phenotype of hyperinsulinism with an as yet unknown defect in the regulation of insulin secretion. It should be suspected in individuals with recurrent exercise related syncope or disturbance of consciousness.- - - - - - - - - - ranking = 0.2049592100423keywords = physical (Clic here for more details about this article) |
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