Malignant rhabdoid tumor of the brain: quantitative 1H MR-spectroscopy and cytogenetics.
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Actins↗
Biomedical subjects
E Boltshauser
Publications and source records attributed to E Boltshauser.
Cognitive impairments in patients with congenital nonprogressive cerebellar ataxia.
OBJECTIVE: To report neuropsychologic functions and developmental problems of patients with congenital nonprogressive cerebellar ataxia. BACKGROUND: Growing interest in cerebellar function has prompted closer attention to cognitive impairments in patients with cerebellar damage. METHODS: The authors studied 11 patients with nonprogressive congenital ataxia (NPCA) with Wechsler's intelligence testing, with additional tests of attention, memory, language, visual perception, and frontal functions. RESULTS: Seven of the 11 patients had an IQ of 60 to 92, with marked nonverbal deficits and subnormal to normal verbal performance (group A). Four patients had an IQ of 30 to 49 without pronounced profile asymmetry (group B). Four of the 7 group A patients had decreased alertness and sustained attention, but all had normal selective attention. Tests of frontal functions and memory yielded higher verbal scores than nonverbal scores. There was no deficit on the Aachener Naming Test (similar to the Boston Naming Test), because there were marked difficulties in the majority with visuoconstructive tasks and visual perception. Group B was significantly abnormal in almost all subtests, having a less prominent but similar profile. CONCLUSION: Patients with NPCA have significant cognitive deficits with an asymmetric profile and better verbal than nonverbal performance. Effects on nonverbal performance of longstanding deficits in visuospatial input during learning, the influence of impaired procedural learning, and asymmetric plasticity of the cerebral hemispheres may contribute to this uneven neuropsychological profile.
Adolescent↗
Neonatal Escherichia coli meningitis: spinal adhesions as a late complication.
We describe two boys who had severe spinal complications in adolescence after a favorable initial recovery from neonatal Escherichia coli meningitis. Due to spinal granulomatous adhesions, one boy died after an attempted scoliosis operation (high cord lesion). The other showed severe progressive neurological deterioration with spinal and cerebellar symptoms. Conclusion The severe complication of chronic arachnoiditis with spinal adhesion may occur many years after neonatal acute bacterial meningitis.
Adolescent↗
Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy.
The nemaline myopathies are muscle disorders of variable severity and age of onset, with characteristic nemaline bodies in the sarcoplasm. Genes for dominant (NEM1) and recessive (NEM2A) nemaline myopathy have been localised to chromosomes one and two, respectively. A missense mutation in the alpha-tropomyosin gene (TPM3) has been associated with NEM1 in one family. Probands from 76 other nemaline myopathy families have now been screened for TPM3 mutations. One proband, who was not noted to have any weakness neonatally, but who died at 21 months of age, was shown to be homozygous for a single strand conformation polymorphism (SSCP) in skeletal-muscle-specific exon 1 of TPM3. Sequencing revealed homozygosity for a nonsense mutation at codon 31 (CAG to TAG). The patient should have no functioning alpha-tropomyosin slow protein. The nemaline bodies in this patient were exclusively in type one fibres, consistent with the expression of TPM3 only in type one fibres.
Fatal Outcome↗
Visual field constriction is not limited to children treated with vigabatrin.
Vigabatrin (GVG) is widely used in the treatment of complex partial seizures and infantile spasms. Persistent visual field constriction associated with GVG therapy in adults was reported as a rare but serious side-effect. Visual field examination in children is more difficult because of a lack of cooperation among very young or mentally handicapped patients. We performed Goldmann perimetry in 12 of 153 patients treated with GVG as mono- or as add-on therapy. The others would not cooperate, and two adolescents refused the examination. For comparison, we examined 12 age-matched patients with complex partial or generalized epilepsy who had never taken GVG. In five of 12 GVG-treated patients, and in one of the control group, we found a concentric visual field constriction. All patients were subjectively asymptomatic. The GVG-treated patients had taken the drug in combination with valproic acid (VPA) or oxcarbazepine (OCB). In four patients, GVG treatment was already stopped at the time of the ophthalmologic examination. Three patients had intracerebral lesions that could not account for the pathologic perimetric findings. The single patient from the control group with concentric visual field constriction had an absence epilepsy, treatment being performed with VPA and lamotrigine (LTG). In conclusion, GVG has a causal but not unique connection with visual field constriction in pediatric patients.
Adolescent↗
Clinical features and revised diagnostic criteria in Joubert syndrome.
The clinical presentation of children with Joubert syndrome can include nonspecific features such as hypotonia, ataxia, and developmental delay. Careful examination of the face shows a characteristic appearance, and a neuro-ophthalmologic examination shows the presence of oculomotor apraxia. In the neonatal period, most children have hyperpnea intermixed with central apnea. Neuroimaging of the head in the axial plane demonstrates the "molar tooth sign"--deep posterior interpeduncular fossa, thick and elongated superior cerebellar peduncles, and hypoplastic or aplastic superior cerebellar vermis. The central nervous system malformation spectrum observed in radiologic and neuropathologic studies accounts for many clinical features of Joubert syndrome. The developmental delay and cognitive impairment cannot be fully explained by the hindbrain malformation and probably result from dysfunction of the cerebral hemispheres. Although related conditions with vermian hypoplasia or aplasia (including Arima; Senior-Loken; and cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndromes) can mimic Joubert syndrome, detailed imaging data are lacking in such cases. We propose a revision in diagnostic criteria for Joubert syndrome.
Abnormalities, Multiple↗
Morning glory disc anomaly in neurofibromatosis type 2.
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Child↗
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".
Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder is reminiscent of another rare condition, the Stüve-Wiedemann syndrome (SWS), which comprises campomelia at birth with skeletal dysplasia, contractures, and early death. To test for possible nosologic identity between these disorders, we reviewed the literature and obtained a follow-up of the only two surviving patients, one with SJS type 2 at age 10 years and another with SWS at age 7 years. Patients reported as having either neonatal SJS or SWS presented a combination of a severe, prenatal-onset neuromuscular disorder (with congenital joint contractures, respiratory and feeding difficulties, tendency to hyperthermia, and frequent death in infancy) with a distinct campomelic-metaphyseal skeletal dysplasia. The similarity of the clinical and radiographic findings is so extensive that these disorders appear to be a single entity. The follow-up observation of an identical and unique pattern of progressive bone dysplasia in the two patients (one with SJS type 2, one with SWS) surviving beyond infancy adds to the evidence in favor of identity. The hypothesis that SWS and SJS type 2 are the same disorder should be testable by molecular methods.
Abnormalities, Multiple↗
Cerebellar involvement in metabolic disorders: a pattern-recognition approach.
Inborn errors of metabolism can affect the cerebellum during development, maturation and later during life. We have established criteria for pattern recognition of cerebellar abnormalities in metabolic disorders. The abnormalities can be divided into four major groups: cerebellar hypoplasia (CH), hyperplasia, cerebellar atrophy (CA), cerebellar white matter abnormalities (WMA) or swelling, and involvement of the dentate nuclei (DN) or cerebellar cortex. CH can be an isolated typical finding, as in adenylsuccinase deficiency, but is also occasionally seen in many other disorders. Differentiation from CH and CA is often difficult, as in carbohydrate deficient glycoprotein syndrome or 2-L-hydroxyglutaric acidaemia. In cases of atrophy the relationship of cerebellar to cerebral atrophy is important. WMA may be diffuse or patchy, frequently predominantly around the DN. Severe swelling of white matter is present during metabolic crisis in maple syrup urine disease. The DN can be affected by metabolite deposition, necrosis, calcification or demyelination. Involvement of cerebellar cortex is seen in infantile neuroaxonal dystrophy. Changes in DN and cerebellar cortex are rather typical and therefore most helpful; additional features should be sought as they are useful in narrowing down the differential diagnosis.
Adolescent↗
Treatment with the N-methyl-D-aspartate receptor antagonist dextromethorphan in severe bacterial meningitis: preliminary results.
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Child↗
Vigabatrin as a first-line drug in West syndrome: clinical and electroencephalographic outcome.
The cessation of infantile spasms and the disappearance of hypsarrhythmia in sleep EEG are the criteria for successful treatment in West syndrome. In a prospective study at the Children's University Hospital, 28 children with West syndrome (17 symptomatic, 7 cryptogenic, 4 idiopathic) were treated with vigabatrin monotherapy for at least 2 weeks. Seven children received vigabatrin 150 mg/kg/day, and 21 children received 65-75 mg/kg/day. Patients were classified as responders, when infantile spasms and hypsarrhythmia in sleep EEG disappeared within 2 weeks. After 2 weeks, 18 patients were seizure-free, 14 without hypsarrhythmia. Fourteen children were responders (8 symptomatic, 3 cryptogenic, 3 idiopathic), and 14 non-responders. The follow-up encompassed 6 months to 5.3 years (mean 20.3 months). In the responder group, 12/14 patients (6 symptomatic, 3 cryptogenic and 3 idopathic) remained seizure-free, no relapse of West syndrome occurred. In the non-responder group, ACTH was efficient in 11, valproic acid in 2 children and clonazepam in 1 child. Relapse occurred in 4 children after discontinuation of ACTH. At last visit EEG was normal in 8/14 responders and 1/14 non-responders. The efficacy of vigabatrin monotherapy was comparable to ACTH and occurred within 2 weeks.
Adrenocorticotropic Hormone↗
Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects.
Information on the long-term development of larger series of children with non-progressive congenital ataxia (NPCA) is scarce. We have updated a personal cohort of subjects previously diagnosed as having NPCA. Children with brain malformations, acquired neurological illness, or defined syndromes were excluded. From 58 subjects, 34 were available for review (including three pairs of siblings). All our subjects had delayed motor and speech development. Truncal ataxia persisted but became less significant. Two subjects developed spasticity and three a focal dystonia. Epilepsy was a feature in 10 of the subjects. Cognitive impairment was present in 22 of 34 subjects. MRI was normal in 15 of 27. There were no obvious correlations between degree of motor delay, severity of ataxia, cognitive impairment, and neuroimaging. Although genetically and clinically not a homogeneous entity, NPCA is a helpful diagnostic label. Major problems arise in the majority of subjects related to cognitive impairment and less to neurological symptoms. Early individual prognosis is not possible from early developmental milestones, neurological signs, or neuroimaging.
Adolescent↗
Adverse effects of vigabatrin in Angelman syndrome.
New antiepileptic drugs designed for enhancing GABAergic inhibition, such as vigabatrin (VGB) may be effective in Angelman syndrome (AS), because associated convulsions could be related to a reduced GABA-receptor density or receptor abnormality. From our preliminary experiences in four children with AS treated with VGB, we conclude that it may induce and increase seizures in patients with AS.
Adult↗
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia.
UNLABELLED: The Schwartz-Jampel syndrome (SJS; chondrodystrophic myotonia; McK 255,800) is a recessively inherited condition defined by myotonia, short stature, and bone dysplasia. Genetic linkage between SJS and chromosomal region 1q36-34 has been observed in several families, but the gene has not yet been identified. We studied the clinical and radiological features in 81 patients from the literature and 5 own patients trying to identify distinct subgroups. In addition, we tested genetic linkage to the SJS locus on chromosome 1 in one family with two affected sibs. We found that a group of patients have mild skeletal changes which may be secondary consequences of myotonia, while another group of patients appear to have primary bone dysplasia with myotonia. Within this latter group, there are differences in age of manifestation, clinical course and pattern of bone changes. We tentatively isolate three different types of SJS: type 1A, usually recognized in childhood, with moderate bone dysplasia, corresponding to the original descriptions of Schwartz, Jampel and Aberfeld; type 1B, similar to type 1A but recognizable at birth, with more pronounced bone dysplasia resembling Kniest dysplasia; and type 2, manifest at birth, with increased mortality and bone dysplasia resembling Pyle disease. Genetic analysis of the family with two sibs affected by SJS type 2 showed evidence against linkage to chromosome 1p36-34. CONCLUSIONS: SJS is clinically and radiologically heterogeneous. The causes of heterogeneity are not known yet but are likely to include both different mutations at the SJS locus on chromosome 1 and the presence of a second SJS locus. A tentative clinico-radiological classification can be useful for the characterization of patients and the development of genotype-phenotype correlations.
Adolescent↗
Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR.
We used a strategy based on long PCR (polymerase chain reaction) for detection and characterization of mitochondrial DNA (mtDNA) rearrangements in two patients with clinical signs suggesting Pearson syndrome and Kearns-Sayre syndrome (KSS), respectively, and one patient with myopathic symptoms of unidentified origin. Mitochondrial DNA rearrangements were detected by amplification of the complete mitochondrial genome (16.6 kb) using long PCR with primers located in essential regions of the mitochondrial genome and quantified by three-primer PCR. Long PCR with deletion-specific primers was used for identification and quantitative estimation of the different forms of rearranged molecules, such as deletions and duplications. We detected significant amounts of a common 7.4-kb deletion flanked by a 12-bp direct repeat in all tissues tested from the patient with Pearson syndrome. In skeletal muscle from the patient with clinical signs of KSS we found significant amounts of a novel 3.7-kb rearrangement flanked by a 4-bp inverted repeat that was present in the form of deletions as well as duplications. In the patient suffering from myopathic symptoms of unidentified origin we did not detect rearranged mtDNA in blood but found low levels of two rearranged mtDNA populations in skeletal muscle, a previously described 7-kb deletion flanked by a 7-bp direct repeat and a novel 6.6-kb deletion with no repeat. These two populations, however, were unlikely to be the cause of the myopathic symptoms as they were present at low levels (10-40 ppm). Using a strategy based on screening with long PCR we were able to detect and characterize high as well as low levels of mtDNA rearrangements in three patients.
Adolescent↗
The effect of the N-methyl-D-aspartate receptor antagonist dextromethorphan on perioperative brain injury in children undergoing cardiac surgery with cardiopulmonary bypass: results of a pilot study.
Experimental evidence indicates a role of the N-methyl-D-aspartate receptor in the pathogenesis of brain injury occurring during cardiac surgery with cardiopulmonary bypass (CPB). Dextromethorphan is a noncompetitive antagonist of this receptor with a favorable safety profile. Thirteen children age 3-36 months undergoing cardiac surgery with expected CPB of 60 minutes or more were randomly assigned to treatment with dextromethorphan (36-38 mg/kg/day) or placebo administered by naso-gastric tube. Dextromethorphan was absorbed well and reached putative therapeutic levels in blood and cerebrospinal fluid. Adverse effects were not observed. Mild hemiparesis developed after operation in one child of each group, and severe encephalopathy in one of the placebo group. Sharp waves were recorded in postoperative continuous electroencephalography in all placebo (n = 7) but only in 2/6 dextromethorphan treated children (p = 0.02). Pre- and postoperative cranial magnetic resonance imaging (MRI) revealed less pronounced ventricular enlargement in the dextromethorphan group (not significant). An increase of periventricular white matter lesions was visible in two placebo-treated children only. No elevations of cerebrospinal fluid enzymes were observed in either group. Although children with dextromethorphan showed less abnormalities in electroencephalography and MRI, dissimilarities of the treatment groups by chance diminished conclusions to possible protective effects of dextromethorphan at this time.
Brain Chemistry↗
Follow-up in children with Joubert syndrome.
Although Joubert syndrome (JS) was first reported in 1969 by Joubert et al (21), the long-term outcome is not yet documented. We report 19 children (4 pairs of siblings) from a single institution diagnosed with JS. Nine children were last seen between ages 10 and 18 years, seven between ages 1 and 4 years. Three children died before 3 years of age, showing marked breathing problems and minimal development. The 16 surviving children showed variable motor development, walking was typically achieved between 2 and 10 years, two children did not learn to walk. Cognitive development showed four with development quotient (DQ) of 30 or less and nine with DQ of 60-85, the others could not be judged confidently. Siblings did not show similar development and sex was not predicting outcome. The following oculomotor problems were seen: mystagmus in 11, ocular motor apraxia in six, isolated ptosis in two, and vertical gaze palsy in three. Additional features were retinal involvement in eight and kidney involvement in four, in one of them after normal previous ultrasound. In conclusion development of children with JS can be split into distinct subgroups, with one group dying at a young age. Those who survive show variable motor and cognitive development and can be grouped into those with DQ of less than 30 or those with DQ between 60 and 85. Ophthalmological and renal involvement may change or develop over the years and should be followed carefully.
Adolescent↗
Benign focal epileptiform discharges in children after severe head trauma: prognostic value and clinical course.
PURPOSE: To assess the occurrence and prognosis of benign focal epileptiform discharges (BFED) in EEG after severe head trauma (SHT) in children. METHODS: Between January 1987 and December 1994, 47 of 828 children with anamnestic SHT showed a single or dominant epileptic focus in EEG. Spike wave localization and morphology were either suggestive for BFED (group I, 21 children) or were suspected to be symptomatic (group II, 26 children). We analyzed the course of epilepsy and epileptic discharges in EEG, neuroradiologic findings, neurologic outcome, and school adjustment. RESULTS: After SHT, spike waves appeared immediately (within 72 h) or delayed (maximum 7 years) and disappeared between ages 3 and 14 years in 14 children of group I and between ages 8 and 23 years in 10 of group II. Children with persistent spike waves in group I were all younger than 14 years; in group II, seven were older than 15 years. Computed tomographic (CT) lesions, ipsilateral to the epileptic focus, were seen in 10 children of group I and 15 of group II. Early seizures occurred in nine children of group I and eight of group II and late-onset seizures in one of group I and nine of group II (p = 0.028). Epilepsy developed in three children of group I and 12 of group II and was drug refractory in six children of group II, all with persistent epileptic foci. Regular schools were attended by 14 (67%) children in group I and 12 (48%) of group II. CONCLUSIONS: Benign focal epileptiform discharges in posttraumatic EEGs have the same favorable prognosis as in benign focal epilepsy and should be handled as recommended for classic benign focal epilepsy.
Adolescent↗