1/40. Two brothers with varying combinations of severe developmental delay, epilepsy, microcephaly, tetralogy of fallot and hydronephrosis.We report on a sib pair who manifest a pattern of anomalies which appears to be unique and for which we are unable to provide a cytogenetic or molecular genetic explanation. While a number of their physical features are distinct, their overall appearance and pattern of neurological impairment suggest they suffer from the same genetic disorder.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/40. Neurogenic pulmonary oedema in a 13-year-old boy in the course of symptomatic epilepsy--case report.Pulmonary oedema with severe, dramatic course following CNS injury was termed neurogenic pulmonary oedema (NPO). NPO was mainly described as a consequence of grand mal seizures, subarachnoid bleeding, intracranial bleeding or head injury. However, the pathogenesis of NPO is not entirely clear yet. In the majority of cases, early or classic symptoms of pulmonary oedema are evident from several minutes up to several hours after CNS damage. Dyspnoea, chest pain, bloody expectoration are observed shortly after consciousness disorders, although NPO may occasionally be diagnosed on the basis of chest x-ray in patients with no clinical symptoms. Tachypnoea, tachycardia, rales without any changes in cardiac system are usually observed during physical examination. The ailments withdraw quickly in the majority of patients, who may require oxygen therapy at most. NPO has been well-known in adults, but our knowledge of its occurrence in children is still rather sparse. The current work presents a case of a 13-year-old boy with pulmonary oedema as a post-seizure complication.- - - - - - - - - - ranking = 3.6489223240317keywords = physical examination, physical (Clic here for more details about this article) |
3/40. valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature.Fetal Valproate Syndrome (FVS) results from prenatal exposure to valproic acid (VPA). It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies, and central nervous system dysfunction. In this study, two siblings who were exposed to monotherapy with VPA are described with documentation of long-term follow up. Both children had craniofacial findings, multiple systemic and orthopedic abnormalities, an overgrowth pattern, and developmental deficits. The literature from 1978-2000 is reviewed. A total of 69 cases that were solely exposed to VPA with adequate phenotypic description were identified. The clinical manifestations of FVS encompass a wide spectrum of abnormalities including consistent facial phenotype, multiple systemic and orthopedic involvement, central nervous system dysfunction, and altered physical growth. The facial appearance is characterized by a small broad nose, small ears, flat philtrum, a long upper lip with shallow philtrum, and micro/retrognathia. In this review, 62% of the patients had musculoskeletal abnormalities, 30% had minor skin defects, 26% had cardiovascular abnormalities, 22% had genital abnormalities, and 16% had pulmonary abnormalities. Less frequently encountered abnormalities included brain, eye, kidney, and hearing defects. neural tube defects were seen in 3% of the sample. Twelve percent of affected children died in infancy and 29% of surviving patients had developmental deficits/mental retardation. Although 15% of patients had growth retardation, an overgrowth pattern was seen in 9%. The data from this comprehensive review especially the developmental outcome should be added to the teratogenic risk, that arises in association with the use of VPA during pregnancy.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/40. Sudden death of an infant with 'an early epileptic encephalopathy'.This article reports an autopsy case of sudden death of an infant with an infrequent encephalopathy involving epileptic episodes. The infant was a 1-year and 10-month-old boy, who had a history of the first convulsive seizures in the third month after birth. The clinical diagnosis was described as 'an early infantile epileptic encephalopathy with suppression-bursts' (Ohtahara syndrome). On a winter day, he was collapsed following a high fever and was already dead on the arrival at a hospital. The body was small for the age and poorly nourished. The autopsy and postmortem magnetic resonance imaging scan (MRI) of formalin-fixed brain revealed advanced unsymmetric brain atrophy with cortical dysplasia, which were prominent in the left temporal and right occipital lobes, and sclerotic atrophy of the parahippocampal gyri, additionally showing a feature of the olivo-ponto-cerebellar atrophy. However, the cause of death was pathologically and microbiologically determined as bacterial bronchopneumonia following pulmonary infection of the influenza a virus. In sudden death cases of physically handicapped infants, the investigation of viral infection in consideration of an epidemiological survey is important even when the death can be pathomorphologically explained.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/40. Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: an inherited encephalopathy of childhood?Two brothers with severe mental retardation of unknown origin were found to share several physical anomalies, including large round head, small concave nose, downslanted palpebral fissures, and gingival hyperplasia. In addition to relative macrocephaly, magnetic resonance imaging (MRI) showed severe cerebral atrophy, especially fronto-temporally. The brothers also had a thin corpus callosum and atrophic caudate nuclei. The reduced white matter showed patchy periventricular signal intensity changes. The lateral and third ventricles were large, but the fourth ventricle was of normal size. The boys had large cisterna magna, communicating widely with the fourth ventricle, but no vermian hypoplasia. Both boys had Lennox-Gastaut spectrum type epilepsy. No chromosomal anomalies were found, despite the suggestive clinical picture. Some of the clinical findings resembled fetal alcohol effects/fetal alcohol syndrome (FAE/FAS), which was also suggested by history. Current diagnostic criteria for FAE/FAS, however, excluded full-blown FAS in these cases and failed to explain the entire clinical picture in the boys. We argue that these boys had an unidentified inherited syndrome, possibly modified by fetal alcohol exposure.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/40. Purtscher retinopathy in the battered child syndrome.Purtscher retinopathy is a hemorrhagic angiopathy that occurs after sudden compression of the thorax. Virtually all reported cases have been in adults who have decreased visual acuity, retinal hemorrhages and exudates, and no other neurological signs. By contrast, in infants, hemorrhagic retinopathy is rarely benign, and generally is considered to indicate intracranial hemorrhage, usually an acute subdural hematoma. Two battered infants had seizures and associated chest injury. There were retinal hemorrhages and exudates, unaccompanied by clinically important intracranial hemorrhage. At follow-up, the hemorrhagic retinopathy had resolved without sequelae; development was normal, and seizures had not recurred. Purtscher retinopathy thus should be added both to the differential diagnosis of hemorrhagic retinopathy in infancy and to the list of physical signs suggesting child abuse.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/40. epilepsy associated with lupus anticoagulant.INTRODUCTION: Lupus anticoagulant (LA) is commonly present in patients with systemic lupus erythematosus (SLE) who present with an ischemic cerebral stroke. Reports have noted the presence of LA in patients with epilepsy who do not have SLE. These patients are usually elderly, and it has been postulated that their epilepsy is due to subclinical ischemic infarcts. methods: Two cases are presented in young patients (age < 35 years) who developed epileptic seizures and were LA positive. These patients did not have SLE or have cerebral infarcts that could explain the presence of their seizures.RESULTS: A 28-year-old woman was admitted for aortic insufficiency and new onset seizures. The clinical history, physical examination and magnetic resonance imaging did not reveal an antecedent cortical ischemic event. Serological testing revealed the presence of LA. The second patient was a 33-year-old man with medically intractable epilepsy in whom serological testing revealed the presence of LA. The clinical history, physical examination, and MRI did not reveal any evidence of an antecedent ischemic event. Neither patient had SLE. CONCLUSIONS: In young patients without SLE and cerebral infarcts, LA may be associated with epileptic seizures.- - - - - - - - - - ranking = 7.2978446480633keywords = physical examination, physical (Clic here for more details about this article) |
8/40. unconsciousness, automatisms, and myoclonic jerks with diffuse rhythmic 9-Hz discharges.A 25-year-old man presented with seizures characterized by unconsciousness, automatic behavior, and myoclonic jerks lasting 0.5 to 8 sec. Videotape analysis of 300 simultaneously recorded electroencephalographic and clinical attacks revealed 8- to 9-Hz 150 to 200 muV sharp waves beginning in both medial temporal areas during eyelid flutters. When discharges spread diffusely on both sides and lasted 2 to 3 sec, 20 degrees forward flexion of the head, unconsciousness, pupil dilation, and staring became evident. Asymmetrical myoclonic jerks invariably appeared. When paroxysms were greater than 3 sec, automatisms and tonic posturing occurred. The electroencephalographic and clinical seizures appeared during the awake and relaxed states, i.e., with normal alpha rhythm. They were suppressed during physical and mental activities and during sleep, i.e., in the absence of alpha rhythm. Our studies suggest that these seizures associated with diffuse electroencephalographic alpha-like activities are subcortical in origin and should be tested in their responsivity to alpha suppressants and inducers.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/40. parents' caregiving approaches: facing a new treatment alternative in severe intractable childhood epilepsy.parents of children with severe and intractable epilepsy face profound caregiving challenges, dealing with their child's frequent and intense seizures, accompanying physical, social and psychological problems, and ongoing quest for seizure control through a variety of medications, diet and surgery. With the advent of a new, surgical treatment for epilepsy, vagus nerve stimulation (VNS), these parents have been presented with a renewed possibility of seizure control for their children. While many studies have investigated the effects of VNS on seizure frequency and intensity, none have looked at parents' experiences in facing this potentially life changing treatment for their child. This multiple-case study addresses this gap by exploring the experiences of nine parents of children receiving VNS. Collected over a 6-month period following parents in the hospital, clinic and in their homes, data from 22 in-depth interviews revealed that parents facing a new treatment alternative for their child experienced uncertainty around treatment efficacy and had a need to exert control over their expectations. Ongoing caregiving approaches adopted by these parents were consistent with existing literature on families living with childhood chronic illness, however, new insights were gained from parents' sharing of positive life perspectives gained through their experiences. These findings provide guidance for health care professionals working with the parents of children with severe, intractable epilepsy.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/40. selenium deficiency associated with cardiomyopathy: a complication of the ketogenic diet.PURPOSE: The ketogenic diet (KD) is an efficacious treatment for intractable epilepsy, associated with infrequent side effects. The KD is known to be deficient in most vitamins and minerals and may be deficient in trace minerals. We report biochemical selenium deficiency in nine patients on the KD, including one who developed cardiomyopathy. methods: A whole-blood selenium level was obtained on the symptomatic patient after noting the patient's poor appearance on physical examination. Children already treated and children beginning the KD were then evaluated prospectively for selenium status by measuring whole-blood or serum selenium as part of routine laboratory evaluation every 3 months. RESULTS: The index case had no detectable whole-blood selenium. Cardiac physical examination and ECG were normal, but the echocardiogram revealed cardiomyopathy. Thirty-nine additional children had the selenium status evaluated. Eight had selenium levels below the normal range (six initially, and two developed low selenium levels on serial testing). They were referred for cardiology evaluations, which were normal. selenium supplementation improved levels in all children. Low levels were seen in some children after only a few months of treatment. CONCLUSIONS: The nutrient adequacy of the currently used KD has not been fully evaluated. The nutrient content of KD with usual supplements may not meet recommended dietary allowances (RDA) for selenium and may not provide other trace minerals in adequate amounts. At our center, selenium deficiency was found in 20% of the patients evaluated. Screening for selenium deficiency is suggested if the patient KD regimen does not meet > or =75% of the RDA or if the child is symptomatic. Nutrient supplementation should provide adequate trace elements for children treated with the KD. The KD requires close monitoring of the overall nutritional status.- - - - - - - - - - ranking = 7.2978446480633keywords = physical examination, physical (Clic here for more details about this article) |
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