Effect of D-ribose administration to a patient with inherited deficit of adenylosuccinase.
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Adenylosuccinate Lyase↗
Biomedical subjects
P Iannetti
Publications and source records attributed to P Iannetti.
Lamotrigine hypersensitivity in childhood epilepsy.
PURPOSE: To evaluate the effect of lamotrigine (LTG) on several humoral and cellular immune functions in children with epilepsy and the change in immunological status in patients with LTG-induced rash. METHODS: Sixteen children with epilepsy of unknown origin or secondary to various etiologies undergoing treatment with LTG participated in the humoral and cellular immunological study. Of these, 2 patients developed a rash during LTG treatment and are described in detail. RESULTS: No modifications of humoral or cellular immunity (measured at 1 and 3 months) were noted in 14 of the 16 patients during this treatment. In the 2 children who manifested rash, basal immune function was normal. In both, immediately after the skin rash appeared, there was a high increase in the percentage of activated T-helper lymphocytes (CD4-DR) and activated T-suppressor lymphocytes (CD8-DR), a slight increase in percentage of B lymphocytes (CD19), and a greater increase in serum concentration of IgE. In 1 of the 2 patients, reevaluation of immunity 20 days after the rash appeared and after LTG suspension showed normal percentages of CD4-DR, CD8-DR, and CD19, whereas the serum concentration of IgE had decreased. CONCLUSIONS: The observed immunological results indicate that LTG-induced rash may be considered an immune-mediated hypersensitivity reaction.
Antibody Formation↗
Gelastic epilepsy: video-EEG, MRI and SPECT characteristics.
Gelastic epilepsy, or ictal laughter, is a relatively uncommon type of seizure which may occur singly or, more frequently, with other types of convulsions. Gelastic seizures have been observed to be associated with many different conditions, mainly hypothalamic hamartomas. We report on a patient whose ictal laughter was the only neurologic disturbance. Ictal video-EEG demonstrated seizure arising from the left frontal region with subsequent involvement of the contralateral homologous area and secondary generalization. MRI showed an enlarged left frontal horn of the lateral ventricle. Postictal SPECT, performed 6 min after the seizure had ended, showed hypoperfusion in the bilateral frontoparietal region and in both cerebellar hemispheres; the presence of this abnormality may be due to the spreading of the cortical epileptogenic focus and to the complex intercommunication between the frontal cortex and the cerebellar hemispheres. Interictal SPECT, in accordance with MRI features, demonstrated a left frontoparietal hypoperfusion. The neurofunctional features observed in the reported child could suggest that gelastic epilepsy originates in the frontal cortex. However, further studies are undoubtedly needed to define the pathogenetic mechanisms of ictal laughter.
Brain↗
[The interdisciplinary approach and early surgery in the trigonocephaly].
Craniofacial surgery aims to stop the pathological process due to the presence of one or more malformations affecting this part of the body, in order to prevent and reduce the secondary damage caused by wrong development of the stricken structures. However, in order to achieve this goal, it is necessary to abide by some criteria, like the interdisciplinary nature of therapeutic procedures and early surgery. Since craniofacial malformations affect some anatomical areas that need combined approaches for diagnosing, preventing and correcting the existing anomalies or the possible complications, it is extremely necessary to set a collaboration between different medical and surgical disciplines. Surgical "timing", lasting from 4 to 6 months, is the basis of early surgery, which aims to prevent the morphostructural alterations of the part, assuring again the physiological growth of the stricken tissues. For this reason, craniostenosis are the malformation syndromes that mainly fit this kind of therapeutic protocol. In this document the authors describe the application of the above cited principles for the resolution of the stenosis of the metopic suture in 9 patients (3 males and 6 females), admitted to the Department of Maxillofacial Surgery of the University of Rome "La Sapienza".
Craniosynostoses↗
Primary CNS demyelinating diseases in childhood: multiple sclerosis.
We report on five children (three female and two male, age span 11-16 years) with laboratory-supported definite multiple sclerosis or clinically definite multiple sclerosis, diagnosed on the basis of Poser and Paty criteria. All patients were subjected to serial clinical examinations, magnetic resonance investigations, CSF biochemical and immunological studies, and neurophysiological and neuropsychological assessments. Four of the five examined subjects underwent steroid treatment. Over a period of 3 years relapses have been observed in three of them. The first symptoms and signs of multiple sclerosis may be subtle and misleading; careful assessment of them may be crucial for an early diagnosis of the disease.
Adolescent↗
Myoclonic epilepsy, neuroblast migration disorders, and maternally derived partial duplication 14q/deletion 15q.
A large maternally inherited duplication of 14q and deletion of proximal 15q was observed in a child with myoclonic epilepsy, mental retardation and neuroblast migration disorders (NMDs) detected by MRI. Genetic syndromes associated with NMDs have previously been described. In additional our observations support the connection between major chromosomal imbalances, developmental brain disorders and epilepsy. Thus, in patients with these combinations of symptoms, careful chromosome investigations are recommended.
Cell Movement↗
Immunologic aspects of vigabatrin treatment in epileptic children.
Vigabatrin (VGB) is an antiepileptic drug (AED) that acts by irreversibly inhibiting gamma-aminobutyric acid transaminase (GABA-T). To evaluate immune responses to GVG, we studied 29 idiopathic or symptomatic epileptic children and also examined a control group (n = 15). Epileptic children were tested before and after 1 and 3 months of VGB treatment. Whole blood was used to connect subsets with commercial monoclonal antibodies. Peripheral blood mononuclear cells (PBMC) were used to assess natural killer (NK) cell activity and lymphocyte response to phytohemagglutinin (PHA) and concavalin A (Con A). Immunoglobulin (Ig) levels were tested in serum. At baseline, no immunologic abnormalities were observed in either control or treated patients. During treatment, the percentage and absolute number of B lymphocytes, serum concentration of Ig, number of T total mature lymphocytes (CD3), T-rosetting lymphocytes (CD11), T-helper cells (CD4), and mitogenic response of lymphocytes remained unchanged. Several other immunologic responses showed a statistically significant increase after 1 and 3 months of VGB treatment, however, including the percentage and absolute number of T-suppressor cells (CD8) and NK cells and NK cell activity. The correlation between number of NK cells and NK cell activity was significant. Data obtained demonstrated that VGB may interfere with the modulation of the immune system, especially cytotoxic cell populations.
Anticonvulsants↗
Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions.
We report on two adolescents with 22q11 deletion. Their main clinical manifestation was chronic symptomatic hypocalcemia secondary to hypoparathyroidism, together with seizures and cerebral calcifications. Neither congenital cardiac abnormality nor T cell deficiency were detected. The phenotypic manifestations of the observed patients were consistent with velo-cardio-facial syndrome (VCFS). A microdeletion of chromosome region 22q11 has been demonstrated in approximately 90% of DiGeorge syndrome (DGS) patients and in 75% of VCFS patients; the association of the deletion with a wide spectrum of clinical findings suggests the existence of a contiguous gene syndrome. The presence of certain traits of DGS/VCFS should lead to investigations of the parathyroid function and molecular analysis of the 22q11 region hybridization studies.
Adolescent↗
Benign epilepsy of childhood with centrotemporal spikes and unilateral developmental opercular dysplasia.
The case of a 15-year-old right-handed girl with developmental delay, mild retardation, astereognosis, and tactile discrimination impairment in the left arm, is reported. During sleep, right partial simple motor seizures with sialorrhea and saliva pooling were present, sometimes followed by secondary generalization. Absences and drop attacks were also observed. Electroencephalography revealed left centrotemporal spike waves spreading to the homologous contralateral region, generalized 3-Hz spike-and-wave complexes enhanced by hyperventilation, and generalized polyspike-and-wave discharges during drowsiness. Magnetic resonance imaging showed right perisylvian (opercular) malformation. Benign epilepsy of childhood with centrotemporal spikes (BECCTS) is a focal idiopathic epilepsy presumed to be of genetic origin. Although brain damage is not expected, structural lesions including opercular macrogyria have been reported. This coexistence has been considered mainly causal and only exceptionally causal. The Foix-Chavany-Marie syndrome or operculum syndrome is the result of bilateral opercular damage. In our child the right structural and the left functional lesions appeared mutually activated, yielding a transient opercular syndrome. The concomitance of BECCTS and developmental opercular dysplasia is suggestive of a common genetic substratum.
Adolescent↗
Norman-Roberts syndrome: clinical and molecular studies.
We report on a 7-year-old boy with microcephaly, bitemporal hollowing, low sloping forehead, slightly prominent occiput, widely set eyes, broad and prominent nasal bridge, and severe postnatal growth deficiency. Hypertonia, hyperreflexia, seizures, and profound mental retardation were also present. Brain MRI documented partial agyric cortex with patchy pachygyria, colpocephaly, and hypoplasia of corpus callosum and brain stem, which is consistent with the diagnosis of lissencephaly type I grade 2. On the basis of his phenotypic appearance the patient is considered to have the Norman-Roberts syndrome. Molecular studies, performed by means of in situ hybridization and DNA probe analysis, did not demonstrate deletion in the Miller-Dieker/isolated Lissencephaly critical region on the short arm of chromosome 17.
Abnormalities, Multiple↗
Neuronal migrational disorders: diffuse cortical dysplasia or the "double cortex" syndrome.
We report a 10-year-old girl who presented with a single episode of partial complex seizure. Neurological examination and psychological evaluation were normal. Electroencephalogram showed abnormalities in the left temporo-occipital region. Magnetic resonance imaging revealed a bilateral layer of tissue iso-intense with gray matter, between the wall of the lateral ventricle and the cortex, extending from the frontal to the occipital region, and enlarged left lateral ventricle. The images indicated diffuse cortical dysplasia, also known as band heterotopia or "double cortex", and left cortical hemiatrophy.
Cerebral Cortex↗
High-performance liquid chromatographic-mass spectrometric assay of busulfan in serum and cerebrospinal fluid.
A liquid chromatographic-mass spectrometric method has been developed to determine busulfan concentrations in the cerebrospinal fluid and serum of some children undergoing bone marrow autotransplantation. After two liquid-liquid extraction steps with dichloromethane on a biological matrix, the separation of busulfan was carried out by isocratic reversed-phase chromatography. The mass spectrometric system was operated in electron-impact mode. Principal ions at m/z 175, 111 and 79 were observed for busulfan, but only m/z 175 was chosen for the quantification of the analyte. The retention time of busulfan was 2.5 min. The detection limit of 100 ng/ml allowed the determination of cerebrospinal fluid and serum busulfan concentrations during the four days of high-dose (1 mg/kg) treatment prior to autotransplantation in five child patients.
Busulfan↗
Regarding some aspects of the positive and negative effects of ionizing and medical treatment of pediatric brain tumors.
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Antineoplastic Agents↗
Pretransplant conditioning with busulfan and cyclophosphamide in acute leukemia patients: neurological and electroencephalographic prospective study.
A neurological and electroencephalographic (EEG) prospective study was performed in 34 leukemic patients receiving busulfan (BU) plus cyclophosphamide (CY) before bone marrow autologous transplant. During BU treatment and briefly thereafter, all patients were given anticonvulsant prophylaxis with phenobarbital. Neurological evaluations were performed daily and EEGs, recorded one week before and soon after the end of the BU regimen, were re-evaluated two months later. Basal EEGs were normal in 23 of the 34 patients, focal abnormalities were detected in 9 cases, and generalized epileptic discharges were present in one (one subject was not studied). EEGs performed at the end of BU administration showed generalized spike/polyspike-and-wave discharges in 21 of the 34 patients, with associated myoclonic epilepsy in 10 subjects appearing on the 3rd or 4th day of treatment. Focal abnormalities were present in 6 patients and constant EEG normality in 7. It is known that myoclonic epilepsy can be induced by drugs. Oral administration of high-dose BU is followed by a high-dose cerebrospinal fluid concentration of the drug. Therefore, myoclonic epilepsy and/or paroxysmal epileptiform EEG discharges may be observed in leukemic patients undergoing high-dose BU therapy.
Acute Disease↗
Gelastic epilepsy. A clinical contribution.
Gelastic (laughing) epilepsy, relatively uncommon, is usually associated with hypothalamic hamartomas, pituitary tumors, astrocytomas of the mammillary bodies, and dysraphic conditions. Cases of unknown etiology are rare. In three of the four cases reported here, the diagnoses were hamartoma of the tuber cinereum; lobar holoprosencephaly; and lissencephaly type I, grade 2. In the fourth, radiographic investigation gave a normal result; a genetic etiology was suggested because of bilateral familial idiopathic epilepsy. In all patients, EEGs showed both focal spikes and generalized spike-and-wave discharges. The primary underlying neurophysiologic disorder may be provoked by the diffuse hyperexcitability of the cortex and subsequent firing of the thalamocortical networks with which the cortical brain is reciprocally interlinked.
Adolescent↗
Cytomegalovirus encephalitis and ganciclovir.
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Cytomegalovirus Infections↗
Syndromes associated with simple calvarial and complex craniofacial anomalies.
Central nervous system (CNS) development is a complex process of predetermined events that must occur in an ordered sequence to ensure normal ontogenesis. Various critical steps take place in a relatively short time (from the first few days to the first months of gestation). Both genetic and environmental insults may produce morphological defects. Early defects often result in nonviable embryos; later, complex craniofacial anomalies, mainly associated with brain damage, may be observed. The pathogenesis of congenital malformations is heterogeneous; sporadic cases are reported as well as recessive or dominant inheritance and chromosomal aberrations. Some of these syndromes have been identified as contiguous gene syndromes; the role of critical chromosomal regions and homeobox genes is discussed. Furthermore, these conditions present difficulties in regard to early diagnosis, surgical repair, and social impact.
Brain Diseases↗