Analysis of different treatment modalities of tethered cord syndrome.

Introduction: Although MRI has improved the diagnosis of tethered cord, many controversies still exist in the treatment of tethered cord syndrome (TCS). Especially the indications for and timing of surgical release have remained topics of discussion.

Materials And Methods: We retrospectively analysed a group of 41 spina bifida occulta (SBO) patients with a tethered cord to evaluate the results of treatment.

The prognostic value of serial EEG recordings following acute neonatal asphyxia in full-term infants.

Perinatal asphyxia is one of the major causes of non-progressive neurological deficits seen in children. It is reported that currently no set of parameters allowing for accurate prediction of prognosis following severe perinatal asphyxia is available. Even electroencephalogram (EEG) recordings, which are known to give a fairly good prediction of long-term outcome, have their flaws.

Alexander disease: diagnosis with MR imaging.

Background And Purpose: To date, the demonstration of Rosenthal fibers on brain biopsy or autopsy specimens is considered a prerequisite for a definitive diagnosis of Alexander disease. We initiated a multiinstitutional survey of MR abnormalities in both presumed and confirmed cases of Alexander disease to assess the possibility of an MR-based diagnosis.

Methods: MR imaging studies in three patients with an autopsy-based diagnosis of Alexander disease were analyzed to define MR criteria for the diagnosis.

11q- syndrome: three cases and a review of the literature.

We report on three children with de novo terminal deletions of the long arm of chromosome 11 (11q-) and breakpoints in 11q23-q24. Eighty-nine other patients with partial monosomy 11q have been reported and were reviewed by us. Salient features of 11q- syndrome are psychomotor retardation, trigonocephaly, telecanthus/hypertelorism, broad depressed nasal bridge, micrognathia, low set abnormal ears, cardiac anomalies and hand/foot anomalies.

Perinatal motor behaviour and neurological outcome in spina bifida aperta.

Aim Of The Study: In the present longitudinal study we investigated the relationship between prenatal motor behaviour and the postnatal neurological sequelae of infants with spina bifida aperta.

Methods And Patients: Prenatal isolated leg movements and general movements of 13 fetuses/infants with spina bifida aperta were assessed by means of ultrasound recordings, and were compared with: 1. the spinal level of morphological defect (meningo-myelocele), 2.

Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities.

A survey was performed of magnetic resonance imaging (MRI) findings in 21 patients with congenital muscular dystrophy (CMD) with cerebral abnormalities to evaluate the contribution of MRI to the classification of CMD patients. In 5 patients with Walker-Warburg syndrome (WWS), MRI showed hydrocephalus due to aqueduct stenosis, generalized cerebral cortical agyric or pachygyric polymicrogyria, diffuse cerebral hemispheric white matter abnormalities, and malformations of posterior fossa structures. In 4 patients with muscle-eye-brain disease, MRI showed cortical dysplasia, but less severe than in WWS.

A new leukoencephalopathy with vanishing white matter.

We identified nine children with a leukoencephalopathy of similar type according to clinical and MRI findings. The patients included three affected sibling pairs. The age range was 3 to 19 years.

An atypical case of Fanconi anemia in elderly sibs.

We describe a 56-year-old woman suspected of Fanconi anemia on the basis of the following clinical findings: microcephaly, short stature, congenital deafness, and the clinical findings in her deceased brother. Hematologic or other signs of malignancy were absent. The diagnosis was confirmed by demonstrating hypersensitivity of her lymphocytes to mitomycin C (MMC).

[Future prospects for children with spina bifida aperta].

Objective: To determine the prospects for independent functioning in society of children born with meningomyelocele who are receiving maximal treatment.

Design: Retrospective descriptive.

Setting: University Hospital Groningen, the Netherlands.

Intracranial tuberculosis in The Netherlands: four paediatric cases.

Unlabelled: Since 1987 a resurgence of tuberculosis is occurring in the Netherlands in analogy to the situation in other industralised countries. So far this has not been associated with an increased incidence of tuberculous meningitis, which is still a rare complication of the disease. Four cases of intracranial tuberculosis were recently diagnosed in our hospital.

The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees.

The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, severely impaired mental and motor development, and extrapyramidal dyskinesia is a distinct system degeneration, previously designated pontocerebellar hypoplasia type 2 (PCH-2). To further characterize its clinical and neuroimaging features, we compiled data from 10 nonrelated pedigrees. Six pedigrees were Dutch, two Swedish, and two German.

Metachromatic leukodystrophy and coincidental finding of papillomatosis of the gallbladder. A case report.

In this case report we describe the coincidental finding of polyps in the gallbladder by ultrasound investigation in a six-year-old girl, known to have metachromatic leukodystrophy. The investigation was carried out because of suspicion of abdominal trauma after falling down the stairs and finding elevated serum amylase.

Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation.

In a family with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with extremely varying clinical expression, we have identified the A3243G heteroplasmic point mutation in mitochondrial DNA. The degree of severity of the clinical symptoms in the various family members was reflected in the relative quantity of mutated mitochondrial DNA in different tissues. The biochemical activity of complex I of the respiratory chain in muscle was decreased in some members of this family.

Apparent SMA I unlinked to 5q.

A proband with a clinical picture indistinguishable from SMA type I is described. The parents are second cousins. On DNA analysis it appeared that the proband and his healthy 2 year old sib had inherited the same haplotypes for DNA markers flanking the SMA locus on 5q.

Growth and the tethered cord syndrome.

We investigated the role of growth in relation to the tethered cord syndrome. By investigation of the growth curve in relation to the operation date we could not establish a period of increased growth preceding the operation date. Thus the operation date was not related to periods of increased length growth.

Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.

Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this syndrome is discussed including the syndromes described by Berman et al and Koletzko et al.

Acute cerebellar ataxia in a child with transient pontine lesions demonstrated by MRI.

A case of acute cerebellar ataxia with discrete signs of pyramidal and tegmental involvement is reported, several days after recovery from an upper respiratory infection of unknown etiology. Magnetic resonance imaging showed transient pontine lesions, disappearing in the convalescence phase. Laboratory tests established the etiologic diagnosis of post-infectious encephalitis.

Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and hypogonadism.

A patient is described with severe mental retardation, a peculiar face with small palpebral fissures and premature balding, habitual patella luxations, small hands and feet, and hypogonadism, a combination which appears to represent a new syndrome.

Vanishing calcification of the brain in an infant after open heart surgery.

Neurological complications after cardiac operations with the aid of cardiopulmonary bypass and hypothermia are well known. A 6 months-old child is described with severe neurological complications after cardiac surgery for Fallot's tetralogy. On the CT scan cortical calcification was seen to vanish.