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Biomedical subjects

E Boltshauser

Publications and source records attributed to E Boltshauser.

At least 19 recordsLinked to original sources
PubMed2006

Spontaneous pregnancy outcome after prenatal diagnosis of anencephaly.

Parents are usually told that many anencephalic offspring die in utero or soon after delivery, and many obstetricians offer elective termination of the pregnancy. Following the personal experience of the first author, a personal website was created with the intention of providing information and exchanging views with other parents confronted with a prenatal diagnosis of anencephaly. Data were collected from 211 pregnancies where the parents opted not to terminate pregnancy. These data revealed that polyhydramnios was a feature in 56 (26%) pregnancies, death in utero in 15 (7%) pregnancies, 72 (34%) babies were born prematurely (<37 weeks of gestation), 113 (53%) at term and 21 (10%) after 42 weeks. Stillbirth, presumably resulting from intrapartum death, occurred in 43 (20%) deliveries. One hundred and fifty-three (72%) of anencephalic offspring were liveborn, of those, 103 (67%) died within 24 hours but 6/211 survived 6 or more days (maximum 28 days). Continuation of pregnancy after a diagnosis of anencephaly is medically safe and should be considered as an option.

Anencephaly↗
PubMed2006

Neuropsychological problems after paediatric stroke: two year follow-up of Swiss children.

AIM: The aim of this study was to obtain information about neurological and cognitive outcome for a population-based group of children after paediatric ischaemic stroke. METHODS: Data from the Swiss neuropaediatric stroke registry (SNPSR), from 1.1.2000 to 1.7.2002, including children (AIS 1) and neonates (AIS 2). At 18-24 months after a stroke, a follow-up examination was performed including a history, neurological and neuropsychological assessment. RESULTS: 33/48 children (22 AIS 1, 11 AIS 2) participated in the study. Neurological outcome was good in 16/33. After childhood stroke mean IQ levels were normal (94), but 6 children had IQ < 85 (50-82) and neuropsychological problems were present in 75%. Performance IQ (93) was reduced compared to verbal IQ (101, p = 0.121) due to problems in the domain of processing speed (89.5); auditory short-term memory was especially affected. Effects on school career were common. Outcome was worse in children after right-sided infarction. Children suffering from stroke in mid-childhood had the best prognosis. There was no clear relationship between outcome and localisation of the lesion. After neonatal stroke 7/11 children showed normal development and epilepsy indicated a worse prognosis in the remaining 4. CONCLUSION: After paediatric stroke neuropsychological problems are present in about 75% of children. Younger age at stroke as well as an emergence of epilepsy were predictors for worse prognosis.

Adolescent↗
PubMed2006

Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex.

We report on 4 boys from 3 families presenting initially in infancy with an acute onset of flaccid tetraparesis and areflexia, resembling Guillain-Barré syndrome (GBS). However, the cerebrospinal fluid (CSF) protein was normal, while serum and CSF lactate were elevated. All patients had recurrent similar episodes, usually associated with infections. Brain MRI showed T (2) hyperintensities in the basal ganglia in two boys, in one of them at the first clinical presentation; the other one had a normal brain MRI during the first episode. A third boy had a normal MRI twice but an increased lactate peak in the basal ganglia in (1)H-MR spectroscopy. Motor nerve conduction velocities (NCV) were normal in all patients. Biochemical analyses of muscle tissue, performed in two patients, revealed a deficiency of the pyruvate dehydrogenase (PDH). Molecular genetic analysis of the X-chromosomal E1alpha subunit of PDH showed three new mutations in phylogenetically conserved areas of the protein: Glu358Lys in patient 1; Arg88Lys in patient 2 and 3 (brothers); and Leu216Ser in patient 4. In conclusion, children with "atypical GBS" should be evaluated for a mitochondrial disorder, including pyruvate dehydrogenase deficiency, even after a first episode.

Adolescent↗
PubMed2006

Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.

Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked MECP2 gene encoding methyl CpG binding protein 2 (MeCP2). Recently, a new isoform of MeCP2 including exon 1 was identified. This new isoform is more abundantly expressed in brain than the isoform including exons 2-4. Very little is known about the phenotypes associated with mutations in exon 1 of MECP2 since only a limited number of RTT patients carrying such mutations have been identified so far. In this study, we screened a cohort of 20 girls with RTT for exon 1 mutations by sequencing and multiplex ligation-dependent probe amplification (MLPA). We identified one girl with a novel exon 1 mutation (c.30delCinsGA) by sequencing and three with genomic rearrangements by MLPA. Comparison of the phenotypes showed that the girls carrying a mutation or rearrangement encompassing exon 1 were more severely affected than the girls with rearrangements not affecting exon 1.

Adolescent↗
PubMed2006

Serial MR imaging, diffusion tensor imaging, and MR spectroscopic findings in a child with progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome.

PEHO syndrome is a rare symptom complex of severe progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy. Disease onset is in early infancy. The current case report presents and discusses serial conventional MR imaging findings and serial functional studies including diffusion tensor imaging and quantitative MR spectroscopy findings in a 6-year-old child with PEHO.

Aspartic Acid↗
PubMed2005

Conservative management of significant epidural haematomas in children.

OBJECTIVE: A significant epidural haematoma (EDH) is generally treated by craniotomy and evacuation. This is a report of conservative management following an EDH on computerized tomography (CT) in a paediatric population. The authors examined whether conservative treatment of radiologically significant EDH is a successful and safe therapeutic option. METHODS: Retrospective data were collected from charts of patients with conservatively treated EDH in the Department of Surgery of the University Children's Hospital Zurich between September 1993 and January 2004. Included were patients without focal neurological deficits, with a Glasgow Coma Scale (GCS) of 15 and an initial CT demonstrating an EDH with a minimal thickness of 1 cm. Mild clinical symptoms of raised intracranial pressure such as headache, nausea or vomiting were treated symptomatically. Follow-up included a standardized interview, a neuropaediatric examination and CT. RESULTS: Thirteen children with EDH had successful conservative management. Only one 12-year-old female patient with a delayed diagnosed frontal EDH required surgical intervention 24 h after admission and 5 days after the accident. Clinical follow-up showed patients without neurological deficits, a Glasgow Outcome Scale of 5 and no post-traumatic sequelae over an average of 4 4/12 years (range 4 months to 10 4/12 years). Follow-up CT showed complete resolution of the EDH within 2 to 3 months. CONCLUSIONS: Our results demonstrate that significant EDH can be treated non-operatively in neurologically normal children. We recommend that such treatment be performed in specialised paediatric centres under adequate neurological observation since prompt emergency operation in case of neurological deterioration should be provided.

Adolescent↗
PubMed2005

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

The authors describe four unrelated girls with a distinctive neurologic disorder with early-onset progressive ataxia and hypodontia with a characteristic pattern of delayed dentition. Cerebral MRI shows hypomyelinated white matter and cerebellar atrophy; 1H-MRS of white matter reveals a marked elevation of myo-inositol.

Age of Onset↗
PubMed2005

The first three years of the Swiss Neuropaediatric Stroke Registry (SNPSR): a population-based study of incidence, symptoms and risk factors.

We report the results of three years of the population-based, prospective Swiss NeuroPaediatric Stroke Registry (SNPSR) of children (up to 16 years) with childhood arterial ischaemic stroke (AIS1), neonatal stroke (AIS2), or symptomatic sinus venous thrombosis (SVT). Data on risk factors (RF), presentation, diagnostic work-up, localisation, and short-term neurological outcome were collected. 80 children (54 males) have been included, 40 AIS1, 23 AIS2, and 17 SVT. The data presented will be concentrated on AIS. The presentation for AIS1 was hemiparesis in 77% and cerebellar symptoms and seizures in 20%, respectively. AIS2 presented in 83% with seizures and in 38% with abnormality of muscle tone. Two or more RF were detected in 54%, one RF in 35%. The most prominent RF for AIS1 were infections (40%), followed by cardiopathies and coagulopathies (25% each). AIS2 were frequently related to birth problems. Neurological outcomes in AIS1 and AIS2 were moderate/severe in 45 % and 32 %, respectively. The outcome correlated significantly with the size of infarction (p = 0.013) and age at stroke (p = 0.027). The overall mortality was 6%. Paediatric stroke is a multiple risk problem, which leads to important long-term sequelae.

Adolescent↗
PubMed2005

Marchiafava-Bignami-like injury of the corpus callosum in an infant.

We report on a 16-month-old boy who presented with truncal ataxia and intermittent nystagmus. Magnetic resonance imaging (MRI) at 19 months showed a T (2)-hyperintensity of the splenium and the genu of the corpus callosum with extension into the adjacent frontal white matter. Diffusion tensor imaging (DTI) revealed a corresponding area of restricted diffusion, suggesting cytotoxic oedema. The extent and localisation of the signal abnormalities mimic tissue injury as seen in Marchiafava-Bignami disease (MBD). Metabolic investigations were normal. Follow-up imaging at 24 months showed a similar T (2)-hyperintensity of the corpus callosum and white matter while on DTI the cytotoxic oedema had resolved. Clinically a remaining truncal and gait ataxia, clumsiness and a developmental delay is seen. Goal of this case report is (a) to present a rare case of Marchiafava-Bignami-like injury of the corpus callosum in an infant and (b) to discuss the neuroradiological imaging findings including MRI and DTI.

Corpus Callosum↗
PubMed2005

Outcome of medulloblastoma in children: long-term complications and quality of life.

To study the outcomes in long-term survivors of paediatric medulloblastoma (MB), we followed 51 consecutive children who were treated between 1980 and 2000 in a single institution. In 18 of 26 survivors (mean follow-up time 12.2 years), tumour control, neurological, endocrine, and neurocognitive complications and their impact on behavioural and psychological adjustment, and health-related quality of life (QoL) were comprehensively assessed using qualitative and quantitative measures. Endocrine deficits occurred in 61 %, neurological complications in 72 %, and significant school problems in 72 %. All patients had significant deficits in neurocognitive functioning: attention and processing speed was impaired in 79 %, learning and memory in 88 %, language in 56 %, visual perception in 50 %, and executive functions in 64 %. In comparison with healthy controls, social functioning was rated by the patients as the QoL dimension most affected. Parents' ratings were considerably lower than those of the patients. No MB survivor > 18 years of age (n = 12) had a boy- or girlfriend. Because of their treatment, including craniospinal radiotherapy, MB long-time survivors are not only at great risk for neurological, endocrine, and neurocognitive complications, but also of social isolation thereby decreasing self-rated QoL substantially.

Activities of Daily Living↗
PubMed2004

Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy.

Episodic ataxia type1 (EA1) is an autosomal dominant disorder characterised by episodes of ataxia, dysarthria, tremor and visual disturbances lasting for seconds or minutes, precipitated by physical and emotional stress, startle or sudden movements. In addition there is continuous myokymia. Phenotypic variants such as the combination with epilepsy, shortening of the Achilles tendon in children, transient postural abnormalities in infancy, and a very few patients with longer lasting episodes have been reported. We describe a 10-year-old girl with EA1 who has distal weakness with paresis of the extensors of the feet and prolonged spells of limb stiffness (neuromyotonia) lasting up to 12 hours. A novel single nucleotide change at position 785 T > C that alters a highly conserved residue in the third transmembrane segment of the voltage-gated potassium channel Kv1.1 was found.

Ataxia↗
PubMed2004

Cerebral actinomycosis before adolescence.

In a 10-year-old boy presenting with focal seizures and 6 months later with acute right-sided hemiparesis, the diagnosis of a cerebral abscess due to Actinomyces israelii was established. The immunocompetent child suffered from a complex congenital heart disease with pulmonary arteriovenous shunts and pulmonary hypertension causing mild cyanosis. His parents had been reluctant to agree to neuroimaging investigations resulting in a delayed diagnosis. Despite the long interval between first symptoms and commencement of treatment including neurosurgical excision of the abscess followed by a 4-week course of ceftriaxone, a complete recovery of the hemiparesis was observed. This patient is the first case with cerebral actinomycosis before adolescence reported so far.

Actinomycosis↗
PubMed2004

Follow-up of a child with hypoacetylaspartia.

We provide a 5-year follow-up of a patient previously reported to have no NAA signal on neurospectroscopy. At 8 years this boy was found to have profound neurological dysfunction: he had truncal ataxia, no expressive speech, behaviour abnormalities, secondary microcephaly and cognitive achievements corresponding to less than 12 months of age. He started to have generalized seizures at 5 years 9 months. Although not directly proven we assume an inborn error of NAA metabolism, possibly a defect of the anabolic enzyme L-aspartate N-acetyltransferase (EC 2.3.1.17).

Amino Acid Metabolism, Inborn Errors↗
PubMed2004

Cerebellar agenesis and diabetes insipidus.

We report on a 7-year-old female, born after a normal pregnancy at term, previously referred because of delayed psychomotor development. MRI revealed isolated cerebellar agenesis (CA) with only minute tissue remnants of the anterior vermis/paravermian anterior quadrangular lobes and pontine hypoplasia. The patient demonstrated truncal ataxia, saccadic ocular pursuit and mild gaze evoked nystagmus. At the age of 2.5 years, the girl achieved independent walking, though with a markedly ataxic gait; at the same age diabetes insipidus was recognized and appropriately treated. This association has not been reported before. At the ages of 3.5 and 6.5 years, her developmental quotient (DQ) was 65 and 60, respectively, with a very poor vocabulary and cerebellar dysarthria. The term "agenesis" is problematic as several reports describe considerable cerebellar tissue remnants and may include pontocerebellar hypoplasia. A literature review disclosed only a few patients with CA (defined in a strict sense) diagnosed in vivo by MRI. It is questionable whether asymptomatic CA occurs.

Cerebellum↗
PubMed2004

Homozygosity mapping of a third Joubert syndrome locus to 6q23.

BACKGROUND: Joubert syndrome (JS) is a recessively inherited disorder characterised by hypotonia at birth and developmental delay, followed by truncal ataxia and cognitive impairment, characteristic neuroimaging findings (cerebellar vermis hypoplasia, "molar tooth sign") and suggestive facial features. JS is clinically heterogeneous with some patients presenting with breathing abnormalities in the neonatal period, oculomotor apraxia, retinal dystrophy, retinal coloboma, ptosis, hexadactyly, and nephronophtisis or cystic dysplastic kidneys. JS is also genetically heterogeneous, with two known loci, on 9q34 (JBTS1) and 11p11-q12 (CORS2), representing only a fraction of cases. METHODS: A large consanguineous Joubert family (five affected) was analysed for linkage with a marker set covering the entire genome and 16 smaller families were subsequently tested for candidate loci. RESULTS: We report here the identification of a third locus in 6q23 (JBTS3) from the study of two consanguineous families. LOD score calculation, including the consanguinity loops, gave a maximum value of 4.1 and 2.3 at q = 0 for the two families, respectively. CONCLUSIONS: Linkage between the disease and the D6S1620-D6S1699 haplotype spanning a 13.1 cM interval is demonstrated. Genotype-phenotype studies indicate that, unlike CORS2, JBTS3 appears not to be associated with renal dysfunction.

Abnormalities, Multiple↗
PubMed2003

Moyamoya disease and Moyamoya syndrome: experience in Europe; choice of revascularisation procedures.

OBJECTIVES: To present our clinical experience in terms of disease presentation and choice of revascularisation procedure in our first group of 23 European Moyamoya angiopathy (disease and syndrome) patients. METHOD AND PATIENT SELECTION: Twenty three patients were diagnosed and treated from 1997-2001 in our neurosurgical department. All patients underwent preoperative angiography, colour Doppler examination, cranial MRI and/or CT scans, HMPAO-SPECT or H(2)(15)O PET (baseline and Diamox challenge) scans. Nineteen patients presented with child-juvenile Moyamoya angiopathy with an average age at presentation of 8 years (range 1-17 years), in 4 patients adult Moyamoya was diagnosed with a mean age at presentation of 34 years (range 23-40 years). RESULTS: In all but one patient bilateral affection was present at the time of diagnosis. All patients underwent direct and/or additional indirect revascularisation procedures. Twenty-one patients underwent bilateral revascularisation procedures. In two patients a unilateral procedure was performed. A direct STA-MCA bypass (superficial temporal artery branch - middle cerebral artery branch anastomosis) was performed in all patients. Additional direct STA-ACA bypass (STA - anterior cerebral artery branch anastomosis) was performed in 10 patients. Indirect arteriosynangiosis using the occipital artery was performed in the posterior cerebral artery (PCA) territory in 3 patients. The frontal branch of the STA was used for arteriosynangiosis in the frontal region in another 2 patients. Indirect frontal durasynangiosis was performed in 14 patients. The number and location of multiple revascularisation procedures was determined according to the angiographic findings as well as the site of decreased perfusion reserves seen on H(2)(15)O PET. A one stage revascularisation procedure was performed in 7 patients. Fourteen patients underwent two stage procedures. Following operation no complications were encountered in all but one adult patient who died postoperatively due to a massive middle cerebral artery infarct on the nonoperated side. CONCLUSIONS: As territorial hemodynamic disorder seems to be a characteristic in Moyamoya disease and/or syndrome, judging from our experience with European patients in our series, and several reports hitherto, treatment with multiple revascularisation procedures is considered to be justified.

Adolescent↗
PubMed2003

Lhermitte-Duclos disease in 3 children: a clinical long-term observation.

We report three boys in whom a diagnosis of Lhermitte-Duclos disease (LDD) was assumed from characteristic neuroimaging findings. LDD was confirmed by an open biopsy in patient 1, while a biopsy in patient 2 was inconclusive. Histologic confirmation in patient 3 was deliberately not attempted. However, a follow-up observation of stable clinical and neuroimaging findings over 2, 5 and 11 years, respectively, support the diagnosis of LDD. Despite extensive expansion of the lesion with brainstem involvement, clinical signs in two boys were minimal, while one patient has cognitive impairment and a complex oculomotor disturbance. So far we found no evidence for an association with Cowden disease (CD). No germline PTEN mutations were detected in these children, but the amount of available biopsy tissue in patients 1 and 2 was insufficient for a complete genetic analysis of tumor tissue. In conclusion, LDD can usually be diagnosed by MRI. In view of the favourable natural history, a conservative "wait and see" strategy is justified, particularly if radical tumor resection is not possible. LDD is often not associated with CD and germline PTEN mutations seem not to be present in isolated LDD.

Cerebellar Neoplasms↗