Luke's Tuberous Sclerosis Page
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LONG-TERM EVALUATION OF INNER ORGAN LESIONS IN CHILDREN WITH TUBEROUS SCLEROSIS Sergiusz Jozwiak & Roman Michalowia, Neurology Department, Children's Memorial Health Institute, Warsaw, Poland In the period 1983-1996 we examined 106 children with tuberous sclerosis. In all the children, the diagnosis of tuberous sclerosis has been established according to Gomez and Roach criteria of TS. All patients underwent careful pediatric and neurological examinations. Computerized tomography of the brain was carried out in 102 children. In 50 patients CT scans were carried out two or more times. Periventricular calcifications were found in 96 children and showed slowly progressive enlargement. There were subependymal giant cell astrocytomas found in 8 patients. In 3 of the 8 children we could observe on subsequent CT scans the slow transformation of periventricular nodules into subependymal giant cell astrocytomas. The interval between examinations in these children was2.3 to 6 years. Ultrasonography of the abdomen was carried out on 91 - children, and repeated several times for 30 children. Kidneys, liver, pancreas, and spleen were carefully evaluated. Multiple renal angiomyolipomas were revealed in 33 children. Large renal tumors, 3 cm in diameter, were found in 8 children. In one child it was a clear cell carcinoma which had a fatal outcome. In other children there were angiomyolipomas. Echocardiography was carried out in 78 patients. Cardiac tumours were found in 37 children, in most of them under the age of 2 years. A follow-up study was carried out on 18 children with these cardiac tumors and in 10 of them the tumors diminished or disappeared on repetitive examinations. High frequency of cardiactumors in pubertal girls may be associated with oestrogen activity. On the basis of our experience we suggest these tests should he carried out: a) CT scan of the brain every 3 years b) Ultrasonography of the kidneys every 2 years in children below 10 years of age and every 3 years inpatients above age 10. c) Echocardiography in all children below 2 years of age. NEUROLOGICAL ASPECTS OF TUBEROUS SCLEROSIS COMPLEX Paolo Curatolo Pediatric Neurology, University of Rome 'Tor Vergata', P.le Umanesimo 10, 00144 Rome The neurological manifestations of Tuberous Sclerosis Complex (TSC) are variable, Symptoms of conical tubers may include seizures, mental retardation, learning disabilities and abnormal behavior. Seizures, the most common neurologic symptom of TSC, have a focal or multifocal origin, clinical features depending on the localization of the cortical tubers. Epilepsy associated with TSC is often intractable. Some of the lesions (i.e. mesial frontal tubers) are intrinsically epileptogenic and associated with very severe seizure. Unfavorable prognostic factors include onset earlier than one year of age. presence of several seizure types(infantile spasms and partial motor or complex partial seizures, drop attacks and atypical absences), multifocal discharges or secondary bilateral synchrony, and occurrence of new EEG foci during the evolution. Seizure control has benefited from the introduction of new antiepileptic drugs. The choice of the proper antiepileptic drug should be based on the type of epileptic syndrome. Vigabatrin has replaced ACTH and sodium valproate as the first choice treatment of infantile spasms. Lamotrigine is emerging as more effective in secondarily generalized seizures, atypical absences and drop attacks. Some TSC patients may benefit from the use of drugs combination because the mechanism of action is supposed to be complementary. Carefully selected drug-resistant patients can be explored with intensive monitoring as candidates for surgical removal of epileptogenic lesions. The success of epilepsy surgery is predicated on the clear identification of epileptogenic foci. The combined use of topographic mapping of the EEG and dipole localization methods may provide important clues to the localization of epileptogenic areas even in children with apparently synchronous spike and wave bursts. Magnetic Source Imaging-a technique that combines MEG data on brain function with MRI data on brain structure-can be used to localize specific regions responsible for generations of epileptiform transients. patients with TSC range from intellectually normal to severely retarded. Children with normal intelligence may have different specific neuropsychological deficits related to the location of the cortical tubers. In addition to mental retardation, multiple behavioral problems, including sleep disorders, hyperactivity, attention deficit, and autism have been found in children with TSC. The biological bases of the behavioral phenotype seen in TSC are still unclear. References -Curatolo P. Neurologicalmanifestations of Tuberous Sclerosis Complex. Child’s Nervous System. 1996, in press. MRI AND SPECT ANALYSISIN TUBEROUS SCLEROSIS H.Nees & M.R. Trimble, Institute of Neurology, The National Hospital, Queen Square, London Purpose of the Study It has come to our attention over time that a number of patients with tuberous sclerosis can develop behavior problems, and we have been particularly interested in the underlying brain neuro anatomical associations with the development of hallucinations and delusions. Although the latter are infrequent in tuberous sclerosis, they happen with sufficient frequency for us to wish to explore further their biological basis. Methods We have examined 12 patients with tuberous sclerosis using up to date neuroimaging techniques. These include a magnetic resonance scan (MRI),whereby the fine structure of the brain can be analyzed, and single photon emission computerized tomography (SPECT) scanning, whereby changes of blood flow, which reflect on brain function, can be examined. We have divided our patients into two groups, a group with psychosis, and a group without psychosis. Most of the patients that we saw had associated epilepsy. A neurological and psychiatric history was taken on all patients, and a neurological clinical examination was carried out. The MRI scan was carried out using a Vectra 0.5 Tesla machine, and we did brain cuts involving axial Tl and T2 and coronal continuous slices, examining in particular parts of the brain such as the hippocampus that relate to emotional and motivational behavior. The HMPAO SPECT scan was performed using a high resolution triple detector IGE Neurocam. Data Analysis The SPECT and MRI data have been analyzed using the method of standardized sets or regions of interest (ROl). The clinical data were coded as variables, and in the presentation we will analyze differences between patients with psychosis and those who were non-psychotic. The data have been arranged in matrices and principle components analysis has been carried out on the data sets which allow us to look at multiple interacting variables. Results Th the results we will show the relationship between certain brain areas, referred to as limbic, which have to do with the regulation of motivation and emotion and psychosis. These changes in brain function in the tuberous sclerosis subjects will be discussed in relationship to other patients with underlying neurological illness who can also develop similar problems. NEUROLOGICAL FINDINGS IN CHILDREN WITH TUBEROUS SCLEROSIS (TSC). Petrak, B. Department of Child Neurology, University Hospital NIotol, Prague, Czech Republic. Tuberous sclerosis complex(TSC) is a disease whose manifestations and cifrilcal course can take Various forms: from cases without any clinical symptoms to the illness with serious outcome, epileptic fits, mental retardation and the development of multi. organ affection. When a TSC diagnosis is established, the parents of the patient ask ,What is the pflgnosis of the disease? What course will it take? What will be the quality of the child’s future life?" The prediction of the course of the disease is important also for the doctor, in order to establish the form of therapy and the plan of charting the patient. A group of 24 patients with TSC from the age of I month to 13 years (10 boys, 14 girls) was observed. All the patients underwent detailed neurological examination while at the Child Neurology Department of University Hospital Niotol during the period 1982-1992. We evaluated the objective neurological findings, the EEC findings, the clinical course and the compensation of epileptic fits, and findings on the CT (NIRI) of the brain. In the charted group of patients with TSC were topical neurological findings and psychomotor retardation. Psychiatric difficulties with aggression and sleep disorders were also found. The EEC finding was mainly slightly or fairly abnormal, only in one patent it was normal. Epileptic fits were observed in an24 patients. We attempted to divide the group into three groups according to the seriousness of the clinical and laboratory findings and according to the course of the disease. In children with a serious course of TSC from the neurological viewpoint ( with poor compensation to epileptic fits and with serious motor retardation) there was from the beginning an objective neurological finding with pronounced pathology -with brain-stem or/and cerebellar symptomatology and movement disorders. The neurological indications of TSC mainly appear as the first signs of TSC and influence the subsequent quality of life o{patients with TSC. Multi-organ affection mainly develops later. The neurological finding, type of epilepsy and EEC during early childhood could thus serve as the initial prognosis of the subsequent course of the disease and as a means of dividing up into groups according to the seriousness of the course(-mild, -complicated,. serious), and would be an assisting factor in application of the most suitable anti-epileptic therapy, the establishing of long-term follow up and measures in the social area. EARLY DIAGNOSIS OF GIANT CELL ASTROCYTOMA IN PATIENTS WITH TUBEROUS SCLEROSIS COMPLEX OrlandoTorres, Mauri6o R Delgado, Dale Swfft, Derek Bruce and E Steve Roach University of TexasSouthwestern Medical Center, Texas Scottish Rite Hospital for Children andChildren's Medical Center, Dallas, Texas We present 16 patients with Tuberous Sclerosis Complex (TSC) and subependymal giant cell astrocytoma (SEGA). The mean age at the time of tumor diagnosis was 9.4 years (range 1.3-18 years). The tumor was located in the area of the foramen of Munro in all16 cases. Head CT scan/MR' identified the lesion which was resected in all patients. Five patients were symptomatic before the tumor was diagnosed (headaches =2, increased seizures =2, headaches, hemiparesis and hemianopsia = 1). Radiological findings included hydrocephalus in 6patients and interval tumor size increase without hydrocephalus in 10 patients. Surgical criteria included: 1) Presence of hydrocephalus 2) Interval increase in tumor size 3) New focal neurological deficit attributable to the tumor and/or 4. Symptoms of increased intracranial pressure. Since 1992, a protocol of yearly CT surveillance was initiated for patients < 18 years old (70 patients). As a result, 7 patients (10% of surveillance)with SEGA were diagnosed and their tumor removed before any symptoms developed. None of these 7 patients had new neurologic deficits after surgery and so far none has developed recurrent SEGA. In two earlier patients the SEGA recurred, one later died from radiation-induced glioblastoma. A yearly surveillance program probably helps to identity SEGA in TSC patients before they become symptomatic. Earlier diagnosis could reduce the number of surgical complications and the risk of recurrence. PECULIARITIES OF SEIZURE EVOLUTION IN TUBEROUS SCLEROSIS PATIENTS. P.A.Teiiiin, M.J.Dorofeeva,A.J.Eriiiakoy, V.S.Perwjnov, M.C.Mahceva. Institute of Paediatrics &Paedjatric Surgery, Department of Neurology and Epileptology, Taldomskaya str. 2, 127412 Moscow, Russia Frequency of seizure syndrome in TS patients is 92 % (P.Curatolo, 1991). Recent research stressed peculiarities via transformation with age of epileptic paroxysm which makes it possible to forecast severity and to determine optimal therapy. The aim of this work is to study the nature of seizures in tuberous sclerosis patients and the peculiarities of its age dynamics. We had studied 23 patients in the age brackets between 7 months and 19 years. The patients had been diagnosed in keeping with criteria of M.R. Gomez (1988). Out of 23 patients TS cases had been sporadic in 65%, hereditary - in 35%.Family ananinesis had shown high frequency of Soizw? syndrome. Seizure paroxysms had been observed with two relatives of the third degree of relationship in sporadic TS cases and with five relatives of the fimt degree of relationship, with I relative of the second degree of relationship and two relatives of the third degree of relationship in hereditary TS cases. 100% of TS patients studied in our clinic had seizures which were manifested in paroxysms of different forms. Seizure syndrome as febrile seizures was manifested in 5 patients (21.7%), 4 of them had simple lebrile seizures, 1 -complex febrile Seizures. 10 patients had the infantile spasms (43,6%), 8 patients (34.7%) had focal fits. The observation of the patients in dynamics had shown that febrile seizures(onset at the age of 9 months to 34 months) transformed into partial form of epilepsy in 4 cases, one patient at present does not have seizures. Infantile spasms (onset at 2 to 7 months)transformed into general epilepsy (1), Lennox-Qastaut syndrome (I), partial epilepsy (5), continued fits are observed in 1patient, stopping of fits in 2 patients. One child who had focal fits recently developed typical absenses. It should be noted that when seizures manifested in the first year of life (52% of patients, of which30.4% - before the age of 4 months) nervous and psychological development was affected more profoundly. Thus seizures syndrome is one of the frequent early manifestation of TS; infantile spasms during the first year of life are the most frequent(43,4%). High rate of febrile seizures and infantile spasms in TS patients predetermine the need for purposeful screening of children suffering from them to exclude the possibility of the disease. The relatives of the sick children often suffer from epileptic fits. Early onset of seizures is correlated with nervous and psychiatric disturbances. Manifestation of seizure syndrome in early childhood determines its resistancy to anticonvulsants and influences obviously nervous and psychological development. This home page is intended to be a family resource for families affected by Tuberous Sclerosis. It does not intend to constitute medical advise. Viewers are warned not to take any action with regard to medical treatment relying on the information provided on this page without first consulting the patient's physician.
Deanna Runyan-Wall E-mail address: deannadawn@lukets.org Last updated: April 5, 2008 Created: December 5, 1996 |
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