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Biomedical subjects

E Boltshauser

Publications and source records attributed to E Boltshauser.

At least 37 records · Page 2Linked to original sources
PubMed2003

Sagittal craniosynostosis: cognitive development, behaviour, and quality of life in unoperated children.

30 patients (23 m/7 f) with untreated, isolated sagittal craniosynostosis (ISC) were re-evaluated at an average age of 9.25 years (2.5 - 25.5). Assessed were neurological status, head shape, school performance, behaviour (with Child Behavior Checklist CBCL), quality of life (TACQOL questionnaire), and a detailed neuropsychological testing (30 patients, 17 siblings as controls). Almost all patients/parents were pleased with the current situation. The aesthetic appearance seemed less obvious compared to photos in infancy. Psychological adjustment as measured by the CBCL was well within normal range. There was a slight tendency for increased internalizing symptoms. TACQOL revealed a lower score for positive emotions. Total score and subscores of test batteries assessing general intellectual performance were in the average range. 6 patients had below average scores in subtests for learning and memory. 12 children had below average scores in one or more subtests for attention. These "deficits" were obviously not of functional importance as all children attended regular school classes (1 exception, an immigrant child of low socio-economic status). These reassuring results regarding school performances, behaviour, and quality of life as well as aesthetic outcome may be helpful when discussing the indication for surgical correction of ISC.

Adolescent↗
PubMed2002

Progressive white-matter disease with primary cerebellar involvement: a separate entity?

Abstract. Although its metabolic basis has not yet been clarified, we report a progressive white-matter disease in a Turkish girl, starting in the cerebellum and spreading to supratentorial white matter. The onset was at the age of 2.5 years with diabetes insipidus, followed by ataxia and pyramidal signs resulting in loss of walking. Aqueduct stenosis was first recognised at the age of 8 years. To our knowledge, this MRI and clinical pattern does not correspond to a recognised, well-defined white-matter disease and may indicate a separate entity.

Age of Onset↗
PubMed2002

[Treatment of acne with consequences -- pseudotumor cerebri due to hypervitaminosis A].

Pseudotumor cerebri (PTC) is an entity characterized by elevated intracranial pressure of probably multifactoral origin, but most cases remain idiopathic. We report a 15-year-old girl with PTC due to prolonged consumption of Arovit (Vitamin A) for treatment of acne. The diagnosis was established by measuring raised cerebrospinal fluid pressure after an intracranial mass lesion and dural venous sinsus thrombosis were excluded. The increased level of vitamin A confirmed the diagnosis of hypervitaminosis A as the causative pathogen. The patient was treated with lumbar punctures and acetazolamide (Diamox). PTC due to hypervitaminosis A is a serious complication, which can cause permanent visual impairment. Patients treated with retinoids require proper surveillance. The elevated serum level of retinoids after withdrawal may persist for weeks.

Acetazolamide↗
PubMed2002

"Vanishing white matter" and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype.

We describe a girl with intrauterine growth retardation, congenital cataracts, mild dysmorphic features and joint contractures. MRI performed at 1 week and 6 months, demonstrated postnatal cerebral and cerebellar atrophy and loss of white matter. The patient died at 10 months. Post-mortem examination revealed ovarian dysgenesis. There was normal development of neuronal and axonal structures, but lack of myelination in brainstem and cerebellum. Subcortical and deep white matter of the cerebral hemispheres were largely destroyed (cavitated), with preserved, but unmyelinated axons in other brain areas. These findings are compatible with a severe leukodystrophic process of pre- or perinatal onset. The exact pathogenesis is not known.

Abnormalities, Multiple↗
PubMed2002

Outcome in children with space-occupying posterior fossa arachnoid cysts.

While prognostic information for Dandy-Walker syndrome and non-progressive cerebellar ataxia/cerebellar hypoplasia is available, surprisingly scant literature reports are found for space-occupying posterior fossa arachnoid cysts (PFAC). We describe the outcome of patients with symptomatic PFAC shunted as infants. Only 11 children were seen over a 20-year period (1980-1999). Cyst location was retrocerebellar (n = 8), supravermian (n = 2) and in the cerebellopontine angle (n = 1). Motor and cognitive impairments in one child were interpreted as the result of neurosurgical complications (intraventricular and intracerebral haemorrhage). One 6-year-old boy had mild truncal ataxia and mild cognitive delay. The 9 other patients had no evidence of ataxia or clumsiness and had average, some even above average, cognitive ability and scholastic achievements. Epilepsy was not a feature. We conclude that the prognosis of PFAC for cognitive development and neurological signs is favourable.

Adolescent↗
PubMed2002

Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children.

Rhombencephalosynapsis is a rare congenital abnormality characterised by dorsal fusion of the cerebellar hemispheres, agenesis or hypogenesis of the vermis, fusion of dentate nuclei and superior cerebellar peduncles. We describe 9 children, aged 1.5 to 6 years, with rhombencephalosynapsis. Isolated rhombencephalosynapsis was found in 2 patients, hydrocephalus in 3 children and another 3 children had ventriculomegaly. Additional supratentorial abnormalities were documented in 5 patients. Clinical findings ranged from mild truncal ataxia and normal cognitive abilities to severe cerebral palsy and mental retardation. No correlation between clinical findings and magnetic resonance imaging could be established so far.

Cerebellum↗
PubMed2002

Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness.

BACKGROUND: The peroneal muscular atrophy syndrome is the most common inherited disorder of the peripheral nervous system and has extensive clinical and genetic heterogeneity. Cranial nerve involvement is rare, though there are distinct peroneal muscular atrophy syndromes in which vocal cord paralysis is a characteristic feature. Among these dHMN-VII and HMSN-IIC are clinically similar but are differentiated by sensory involvement in HMSN-IIC. The gene for dHMN-VII, designated DHMNVP, has been localised to chromosome 2q14, but the location of the gene for HMSN-IIC is currently unknown. It has been suggested that dHMN-VII and HMSN II-C are allelic disorders. OBJECTIVE: To assess the contribution of the dHMN-VII predisposition gene to peroneal muscular atrophy syndromes associated with vocal cord weakness. METHODS: Linkage analysis of microsatellite markers at chromosome 2q14 was undertaken on two families, one affected by HMSN-IIC and a second manifesting vocal cord paralysis and sensorineural deafness in addition to distal muscular atrophy. RESULTS: Two-point LOD scores at chromosome 2q14 markers encompassing the DHMNVP gene were negative in both families. CONCLUSIONS: These results suggest that at least one further gene predisposing to distal muscular weakness in association with vocal cord paralysis is likely to exist, and that dHMN-VII and HMSN-IIC are unlikely to be allelic disorders. Analyses of further HMSN-IIC families are required to confirm this.

Charcot-Marie-Tooth Disease↗
PubMed2001

Stroke in hemoglobin (SD) sickle cell disease with moyamoya: successful hydroxyurea treatment after cerebrovascular bypass surgery.

An 11-year-old boy with hemoglobin sickle disease (HbSD), bilateral stenosis of the intracranial carotid arteries, and moyamoya syndrome had recurrent ischemic strokes with aphasia and right hemiparesis. His parents (Jehovah's Witnesses) refused blood transfusions. After bilateral extracranial-intracranial (EC-IC) bypass surgery, hydroxyurea treatment increased hemoglobin F (HbF) levels to more than 30%. During a follow-up of 28 months, flow velocities in the basal cerebral arteries remained stable, neurologic sequelae regressed, and ischemic events did not recur. This is the first report of successful hydroxyurea treatment after bypass surgery for intracranial cerebral artery obstruction with moyamoya syndrome in sickle cell disease. The patient's religious background contributed to an ethically challenging therapeutic task. (Blood. 2001;97:2165-2167)

Anemia, Sickle Cell↗
PubMed2001

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH.

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder whose hallmark is bilateral vestibular schwannoma. It displays a pronounced clinical heterogeneity with mild to severe forms. The NF2 tumor suppressor (merlin/schwannomin) has been cloned and extensively analyzed for mutations in patients with different clinical variants of the disease. Correlation between the type of the NF2 gene mutation and the patient phenotype has been suggested to exist. However, several independent studies have shown that a fraction of NF2 patients with various phenotypes have constitutional deletions that partly or entirely remove one copy of the NF2 gene. The purpose of this study was to examine a 7 Mb interval in the vicinity of the NF2 gene in a large series of NF2 patients in order to determine the frequency and extent of deletions. A total of 116 NF2 patients were analyzed using high-resolution array-comparative genomic hybridization (CGH) on an array covering at least 90% of this region of 22q around the NF2 locus. Deletions, which remove one copy of the entire gene or are predicted to truncate the schwannomin protein, were detected in 8 severe, 10 moderate and 6 mild patients. This result does not support the correlation between the type of mutation affecting the NF2 gene and the disease phenotype. This work also demonstrates the general usefulness of the array-CGH methodology for rapid and comprehensive detection of small (down to 40 kb) heterozygous and/or homozygous deletions occurring in constitutional or tumor-derived DNA.

Adolescent↗
PubMed2001

Cerebellar imaging--an important signpost in paediatric neurology.

Cerebellar function has traditionally been viewed as limited to the control of voluntary movement. There is increasing clinical and experimental evidence that the cerebellum is involved in nonmotor behaviours and cognitive operations. In acquired and congenital cerebellar lesions such deficits can be demonstrated by appropriate testing. These nonmotor functions explain, at least in part, why many children with congenital cerebellar deficits or malformations first come to medical attention because of developmental delay. While the outcome of defined cerebellar syndromes, such as Dandy-Walker and Joubert, is documented, the relevance of cerebellar involvement related to prenatal (ischaemic) insults and of those observed in the context of more widespread CNS disorganization is not well understood. The cerebellum is vulnerable to prenatal infections and to many toxins and metabolic disorders, but not to perinatal and postnatal hypoxic-ischaemic injury. Consideration of cerebellar involvement and analysis of imaging patterns are crucial in recognizing many neuropaediatric disorders and helpful in guiding appropriate additional investigations.

Cerebellar Diseases↗
PubMed2001

Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.

UNLABELLED: Trichothiodystrophy or sulphur-deficient brittle hair is a clinical marker for several autosomal recessive neurocutaneous syndromes. The typical hair abnormality is frequently associated with many alterations affecting the skin, nervous system, eyes and bones as well as the immune, gonadal and endocrine systems. We report the first cases of dilated cardiomyopathy in two sisters with trichothiodystrophy, leading to cerebral infarction in the younger one. In addition, both suffer from severe hearing impairment, osteosclerosis, and psychomotor retardation with central hypomyelination. CONCLUSION: Severe cardiac involvement and stroke may be associated features of trichothiodystrophy.

Cardiomyopathies↗
PubMed2001

MRI and proton spectroscopy in Lowe syndrome.

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. We report two patients with typical intracranial lesions on MRI. The proton spectroscopy study of the periventricular white matter showed a moderate elevation of the signal at 3.56 ppm in the patient with cystic lesions. This resonance is usually assigned to myo-inositol and interpreted as a glial marker. In our patient it could also represent a true accumulation inside the cysts of phosphatidylinositol 4,5-biphosphate which is not degraded in patients with Lowe syndrome.

Brain↗
PubMed2001

Long-term outcome in children with congenital unilateral facial nerve palsy.

During a 20-year period (1980 - 1999) 12 children with isolated congenital unilateral facial nerve palsy were seen at our hospital. The only child delivered by forceps made a full recovery from his palsy within two months, whereas functional improvement in patients with non-traumatic delivery was generally poor. In two patients the palsy affected predominantly the upper periocular region. In 10 children the lower facial region seemed to be mainly involved. Cognitive outcome was within normal limits, with one exception. Conventional neuroimaging was not contributory to the understanding of the pathogenetic mechanisms. We conclude that the majority of congenital unilateral facial nerve palsies are not of traumatic origin and carry a poor functional prognosis.

Adolescent↗
PubMed2001

Neurological outcome in comatose children with bilateral loss of cortical somatosensory evoked potentials.

Bilateral loss of median nerve cortical somatosensory evoked potentials (SEP) in comatose patients is reported to be one of the most discriminating predictors of poor outcome. We reviewed 53 children with bilateral absent cortical SEP with respect to their outcome and their follow-up SEP. Brain injury was caused by global cerebral ischaemia in 18 children, severe head trauma (SHT) in 13, nervous system infections in 10, and other aetiologies in 12 children. Thirty of 53 children died within the first 4 weeks and another 8 children within 4 years after the event. Two children (both ischaemia) survived in a persistent vegetative state, 9 children (1 ischaemia, 2 SHT, 3 nervous system infections, 3 other aetiologies) survived with severe deficits and 4 children (all SHT) with mild or moderate deficits. In 30 children SEP were repeated and in 8 children (5 SHT, 2 nervous system infection, 1 other aetiology) unilateral or bilateral cortical responses reappeared. Although bilateral loss of cortical SEP predicted an unfavourable outcome in most patients, a few comatose children with SHT showed an outcome with mild or moderate neurological deficits.

Adolescent↗
PubMed2000

Long-term follow-up and residual sequelae after treatment for intracerebral germ-cell tumour in children and adolescents.

BACKGROUND: Information on long-term follow-up of children and adolescents treated for intracerebral germ-cell tumour is scant. We report on the results of a small series of patients treated at a single institution. PATIENTS AND METHODS: Hospital records from 15 patients treated between 1980 and 1998 were reviewed. An attempt was made to correlate sequelae to tumour location and treatment modalities. RESULTS: This cohort constitutes 5.5% of all brain tumours diagnosed at our institution. HISTOLOGY: 10 germinomas, 2 benign teratomas, 2 malignant teratomas, and one mixed germ-cell tumour. Overall survival was 87%, with a mean follow-up time of 7 years and 8 months. The majority of patients have long-term sequelae involving one or several organ systems. In 66% endocrine, in 47% ophthalmologic, in 60% neuropsychological defects were observed. Endocrine and ophthalmologic sequelae show a correlation to tumour location. Neuropsychological long-term abnormalities are frequent and are associated with cranial irradiation in particular at young age, but less with tumour location, irradiation dose or surgery. CONCLUSIONS: Our preliminary data suggest that today intracerebral germinomas and mature teratomas have a good prognosis even when a relapse occurs. The outcome for mixed germ-cell tumours and malignant teratomas is less favourable. Although long-term sequelae are present in the majority of patients, there is some evidence that patients treated after 1990 suffer fewer severe long-term defects, thereby indicating that recent treatment protocols may result in a reduction of sequelae.

Adolescent↗
PubMed2000

Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muscular weakness.

A newborn presented with respiratory insufficiency requiring artificial ventilation, inability to swallow, lack of spontaneous movements including the facial muscles, and areflexia. Nerve conduction velocities were not recordable. Molecular analysis showed a homozygous deletion in the spinal muscular atrophy (SMN) gene region on chromosome 5q. Pathological and neuropathological examination revealed a normal number of anterior horn cells, hypomyelinated axons in peripheral nerves and some atrophy of skeletal muscle fibres in combination with sarcoplasmic glycogen accumulation. This observation illustrates that severe congenital neuropathy can result from deletions in the SMN gene.

Axons↗
PubMed2000

[Pronounced physiological pupillary hippus].

BACKGROUND: The term "hippus" describes pupillary oscillations of variable amplitude and frequency and may be physiological or part of a pathological entity. Thus, pupillary hippus is often the target of extensive clinical investigation. CASE REPORT: A 9-year-old boy was seen in our emergency room in March 1998. Examination showed distinct pupillary oscillations in the absence of any other pathological findings. We presented the patient to a pediatric neurologist. Apart from a history of enuresis and of motor tics in the neck region, the present neurological examination was normal. CONCLUSIONS: Even a pronounced hippus may be physiological and does not necessarily require extensive diagnostic investigations.

Child↗