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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case in which three-dimensional (3-D) magnetic source imaging, using the combined techniques of magnetoencephalography and 3-D magnetic resonance imaging, was employed to localize precisely a structural lesion in the precentral gyrus. The lesion was primarily a hematoma located in the right frontal lobe and was associated with a cryptic arteriovenous malformation that had produced repeated seizures with progressive left hemiparesis. 3-D magnetic source imaging mapped the entire somatosensory homunculus and localized the hematoma in the precentral gyrus. Both this relationship and the deduced localization were confirmed by a cortical recording of somatosensory evoked potentials at the time of surgery. 3-D magnetic source imaging proved to be useful in localizing cortical lesions precisely and in determining preoperatively the best form of treatment for the peri-Rolandic lesions.
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PMID:Presurgical three-dimensional magnetic source imaging of the somatosensory cortex in a patient with a peri-Rolandic lesion: technical note. 805 99

Since the advent of magnetic resonance (MR) imaging, angiographically occult or 'cryptic' vascular malformations (CVMs) have been detected with increasing frequency in the pediatric population. The natural history of these lesions is uncertain and treatment remains controversial. We respectively reviewed the presentation, radiology, treatment and outcome of 37 pediatric patients with CVMs seen at our institution between 1982 and 1992. MR imaging was diagnostic in all patients studied. Angiography was negative in 20 of 21 patients studied, while 1 teenage girl was found to have a venous malformation. Total surgical excision was the treatment goal in all patients presenting with symptomatic CVMs. There has been no surgical mortality. Perioperative complications occurred in one third of the patients but quickly resolved in most cases. Only 2 patients with multiple CVMs, including brainstem lesions, who presented with progressive neurologic deficits were clearly worse following surgery. Six of seven patients with radiation-induced CVMs have remained asymptomatic with close radiographic follow-up, while 1 patient with a hemorrhage has required surgical evacuation. We conclude that CVMs occur more commonly in the pediatric population than previously assumed. Patients presenting with seizures or hemorrhage should undergo craniotomy with the goal of complete excision. Radiation therapy plays no role in the treatment of these lesions and may actually result in their formation. Careful clinical and radiological follow-up is critical to assess the completeness of surgical removal and to evaluate progression of lesions in patients with multiple or radiation-induced CVMs treated conservatively.
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PMID:Pediatric cryptic vascular malformations: presentation, diagnosis and treatment. 816 87

A rare monosomy 1p36.31-33-->pter was found in a child with physical anomalies, psycho-motor retardation, and seizures. Cytogenetic investigation suggested an unbalanced translocation between 1p and an acrocentric chromosome, but the rearrangement was difficult to assess accurately using conventional chromosome banding techniques. The half-cryptic translocation was further characterized using fluorescence in situ hybridization, and the aberrant chromosome 1 was shown to be a derivate of a paternal reciprocal translocation t(1;15) (p36.31-33;p11.2-12). The breakpoints on chromosome 1 and 15 were defined in detail using locus specific probes. The rearrangement did not include the region on chromosome 1p which previously has been suggested to predispose to the development of neuroblastoma in a case with a constitutional translocation. At 3 6/12 years, the patient has no clinical signs of this disease, which illustrates the prognostic significance of this investigation.
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PMID:Monosomy 1p36.31-33-->pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis. 891 43

Methionine synthase (MS) catalyses the methylation of homocysteine to methionine and requires the vitamin B12 derivative, methylcobalamin, as cofactor. We and others have recently cloned cDNAs for MS and described mutations associated with the cblG complementation group that correspond to MS deficiency. A subset of cblG, known as "cblG variant," shows no detectable MS activity and failure of [57Co]CN cobalamin to incorporate into MS in patient fibroblasts. We report the mutations responsible for three cblG-variant patients, two of them siblings, who presented with neonatal seizures, severe developmental delay, and elevated plasma homocysteine. Cell lines from all three patients were negative by northern blotting, though trace MS mRNA could be detected by means of phosphorimage analysis. Reverse transcriptase-PCR, SSCP, and nucleotide sequence analysis revealed four mutations. All were functionally null, creating either a frameshift with a downstream stop codon or an insert containing an internal stop codon. Of the two mutations found in the siblings, one of them, intervening sequence (IVS)-166A-->G, generates a cryptic donor splice site at position -166 of an intron beginning after Leu113, resulting in a 165-bp insertion of intronic sequence at junction 339/340. The second is a 2-bp deletion, 2112delTC. Mutations in the third patient include a G-->A substitution, well within the intron after Lys203, which results in intronic inserts of 128 or 78 bp in the mRNA. The second mutation is a 1-bp insertion, 3378insA. We conclude that the absence of MS protein in these cblG variants is due to mutations causing premature translation termination and consequent mRNA instability.
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PMID:Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency. 968 7

Recently five patients with an Albright hereditary osteodystrophy (AHO)-like phenotype were reported to have a subtelomeric deletion of the long arm of chromosome 2. These patients showed a striking resemblance to a number of patients from a large pedigree known to us for a long time. After molecular confirmation of a subtelomeric deletion in one patient, FISH analysis was used and a cryptic translocation between the long arms of chromosomes 2 and 8, t(2;8)(q37.3;q24.3), was detected. Remarkably, five proven and 10 probable cases with a 2qter deletion were found in the family, but none with an 8qter deletion. This was not explained by increased fetal loss. The major clinical characteristics of terminal 2q deletion are a short, stocky build, round face, sparse hair, deeply set eyes, bulbous nose, thin vermilion border, brachymetaphalangism, seizures, and developmental delay. A specific behavioural phenotype consisting of periods of hyperkinesia and aggression can develop with age. The overall phenotype is sufficiently characteristic to allow clinical recognition. The cytogenetic and molecular studies did not narrow down the common deleted region. Both testing of additional 2q markers and characterisation of other AHO-like patients with 2q37 microdeletions may help to define the candidate gene region.
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PMID:Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. 1046 10

A 3-year-old female referred with developmental delay, hypotonia and seizures was found to have a cryptic interstitial duplication of the Prader-Willi/Angelman critical region (PWACR). Her clinical features form part of a common phenotype characteristic of PWACR duplications including developmental delay, behavioural problems and speech difficulties. Microsatellite analysis showed that the duplication had arisen de novo, was maternal in origin and involved the entire 4-Mb PWACR between the common deletion breakpoints. The existence of cryptic rearrangements emphasises the need for molecular tests alongside conventional cytogenetics when investigating abnormalities involving this imprinted region.
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PMID:Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region. 1059 2

We prospectively analyzed the effect of surgical procedures in epilepsy patients, except for those with mesial temporal lobe epilepsy. Twenty patients with a mean age of 26 years (range 3 to 58 years, 10 male and 10 female) underwent the surgical procedures. These patients were divided into 3 groups according to MRI findings, as follows; group A (localized type): localized lesions such as angiomas or benign tumors, group B (widespread type): widespread lesions such as regional encephalitis or stroke, visible on anatomical neuroimaging, and group C (cryptic type): no lesion visible on anatomical neuroimaging. Following surgery, 11 (85%) of the 13 patients in group A were seizure-free, one showed worthwhile improvement, and one, whose lesion was not removed totally, was unchanged. In group B, two patients (50%) were seizure-free and 2 (50%) showed worthwhile improvement. All the patients in group C showed worthwhile improvement. Lesionectomy, cortical excision, multiple subpial transection (MST) or a combination of these procedures were effective in groups A and B. Patients in group C had a chance to obtain worthwhile improvement by corpus callosotomy or cortical excision. Intracranial EEG recording provides useful information for epilepsy surgery in intractable cases.
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PMID:[Effect of epilepsy surgery based on magnetic resonance imaging (MRI) classification]. 1064 90

Abnormal venous drainage patterns, such as developmental venous anomalies (DVAs), are frequent findings neighbouring cryptic vascular malformations (CVMs). Although the clinical relevance of DVAs remains controversial, increasing attention has been focused on the possible importance of venous outflow disturbance and venous hypertension in DVAs for the development of CVMs. We present the case of a 32-year-old man with dysphasic seizures symptomatic for recurrence and rebleeding of a CVM of the left angulare gyrus, which drained entirely into a large DVA. A cavernoma had been surgically removed 1 year before, while the associated DVA had been left in place. In the following second surgical procedure, the new malformation, which was histologically verified as arteriovenous angioma (AVM), was removed and the DVA was occluded for the length of the angioma. Postoperative course of the patient was unremarkable, the patient is seizure free and neurologically intact. This first report of such a sequence of events raises important questions regarding the association of various vascular malformations, regarding transitional and hybrid forms, as well as the role of anomalous venous drainage in their pathophysiology and probably in their development. Our case and selected cases in literature suggest that venous hypertension in a DVA might not be just a coincidential finding, but sometimes can induce or influence the development and recurrence of associated vascular lesions. The developmental interrelationship, the potential mechanisms for this association and the implications of similar cases reported in pertinent literature are discussed.
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PMID:Recurrent cryptic vascular malformation associated with a developmental venous anomaly. 1282 Jul 66

We described three unrelated children with cryptic 9q34.3 rearrangements and similar clinical manifestations: two with 9q34.3 terminal deletions and the other with an unbalanced translocation involving 9q34.3-qter monosomy and 6p25-pter trisomy. Common features among the three we studied and the other six patients with 9q34.3 deletions in the literature include microcephaly, mental retardation (MR), hypotonic, and epileptic seizures. Their facial characteristics included flat face, arched eyebrows, synophrys, hypertelorism, short nose, anteverted nostrils, carp mouth, protruding tongue, micrognathia, and pointed chin. Other frequent abnormalities were cardiac abnormalities, cryptorchidism or hypospadias, and abnormal toes. These findings are characteristic enough to be a clinically recognizable syndrome.
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PMID:9q34.3 deletion syndrome in three unrelated children. 1505 42

We report on a girl with an abnormal hybridization pattern for the subtelomeric fluorescence in-situ hybridization (FISH) probe panel showing deletion of the long arm telomeric region of chromosome 6. All other subtelomere DNA probes showed normal hybridization patterns. Metaphase cells analysed from cultures of peripheral blood revealed a normal female chromosome complement at the 650-band level. The deletion was further characterized using genomic microarray analysis. Clinical findings include: developmental delay, seizures, hypoplasia of the corpus callosum, dextrocardia, unusual dimpling of knees and elbows, and minor anomalies. We are aware of only two other reports of isolated cryptic 6q subtelomeric deletions not associated with other chromosomal abnormalities. The absence of retinal abnormalities in our case supports the theory that genes responsible for the retinal abnormalities in other terminal 6q deletions are proximal to 6q27. Subtelomeric FISH probes were useful in establishing a diagnosis in our patient. As more cases are reported, we may be able to establish discrete phenotypes and natural histories that can aid in counselling families.
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PMID:6q subtelomeric deletion: is there a recognizable syndrome? 1505 27


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