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. The aim of this prospective study was to evaluate the additional value of serial EEGs in full-term infants. In all, 36 infants were enrolled. All met strict entrance criteria, received standard treatment and underwent two EEGs according to a pre-set protocol: the first between 12 and 36 hours post-partum, the second between 7 and 9 days post-partum. It is clearly demonstrated that serial EEG recordings do enhance the prognostic value of the EEG. Moreover, distinct progression seen in serial EEGs is highly prognostic for a normal outcome and has even more prognostic value than one single severely abnormal EEG. A better indication of future outcome is obtained from serial EEGs.

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. Renal agenesis and anal atresia are reported first here. Supratentorial white matter abnormality on CT and MRI present in our second patient was reported in three patients. Increased mortality is caused by cardiac anomalies. A third of all patients with partial monosomy 11q had thrombocytopenia or pancytopenia and this seems to be related to the absence of band 11q23-q24. Seventy-six percent of patients have de novo deletions with breakpoints in 11q21-q25. There is no obvious correlation between the length of the deleted segment and the severity of the symptoms. In unbalanced chromosomal patterns with deletions of 11q involving bands 11q23-q24 the typical phenotype of 11q- syndrome remains recognizable. Deletions distal to 11q24.1 do not produce the typical 11q- syndrome.

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. The cerebral white matter either was normal or contained multiple focal abnormalities. Malformations of posterior fossa structures were present. Eight patients, classified as having classic merosin-deficient CMD (MD-CMD), had diffuse cerebral hemispheric white matter abnormalities, no other abnormalities. One patient with MD-CMD had only a few, focal white matter abnormalities. Three CMD patients had occipital agyria, otherwise normal gyration, multifocal or more diffuse cerebral white matter changes, and variable hypoplasia of pons and vermis. Two of the 3 patients had negative muscle merosin staining. The conclusion of the study is that MRI is an important adjunct in the classification of CMD patients. CMD with occipital agyria can be regarded as a newly recognized, separate CMD subtype.

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. The onset of the disease was in childhood; the course was both chronic-progressive and episodic. There were episodes of deterioration following infections and minor head traumas, and these could results in unexplained coma. In eight patients with advanced disease, MRI revealed a diffuse cerebral hemispheric leukoencephalopathy, in which increasing areas of the abnormal white matter had a signal intensity close to that of CSF on all pulse sequences. In one patient in the early stages of disease, initial MRI showed diffusely abnormal cerebral white matter, which only reached the signal characteristics of CSF at a later stage. In the patients in whom the disease was advanced, magnetic resonance spectroscopy (MRS) of the white matter showed an almost complete disappearance of all normal signals and the presence of glucose and lactate, compatible with the presence of mainly CSF and little brain tissue. Spectra of the cortex were much better preserved. However, in addition to the normal resonances, there were signals representing lactate and glucose. MRS of the white matter in the patient whose disease was at an early stage was much less abnormal. Autopsy in one patient confirmed the presence of extensive cystic degeneration of the cerebral white matter with reactive change and a preserved cortex. Typical involvement of pontine tegmental white matter was suggested by MRI and confirmed by autopsy. The disease probably has an autosomal recessive mode of inheritance, but the basic metabolic defect is not known.

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). Cell fusion experiments indicated that the patient belongs to complementation group A. The patient's brother died at the age of 50 of heart and renal failure, and anemia. He had clinical findings similar to those of his sister, and a horseshoe kidney. From 31 years on he had thrombocytopenia and leucopenia. Both patients had insulin-dependent diabetes mellitus. A chromosomal breakage test carried out elsewhere before his death failed to demonstrate MMC hypersensitivity of his lymphocytes, which led to the investigation of his sister. To our knowledge these two cases are the oldest Fanconi anemia patients reported thus far.

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. the postnatal motor behaviour, 3. the postnatal sensory function, and 4. the final motor outcome. RESULTS: In all 13 cases studied, the spinal defect was either at thoracic (n = 8) or at lumbal (n = 5) level. All fetuses displayed active leg movements corresponding to the functioning of low lumbal myelum segments (L4-5 in two cases or L5-S1 in 11 cases), despite vertebral defects at high localisation. These leg movements were of normal quality (normal in appearance) and endogenously generated, since no external stimulus was exerted to elicit them. This implies that in fetuses with spina bifida aperta active leg movements can be generated at spinal segments which are located at (n = 1), or under (n = 12) the meningo-myelelocele. Postnatally, for a short period of time (mostly during the first few hours), leg movements related to myelum function at (n = 1) or lower than (n = 7) the spinal defect were detected. However, only in two infants these early leg movements were of normal quality and corresponded with the final motor outcome. In contrast to these early neonatal leg movements, early sensory function was strongly related to the spinal defect (r = 0.76; P = 0.005) and to the final motor outcome (sensory function predicted outcome in all infants of whom follow-up was performed). CONCLUSION: These data on fetuses/infants with spina bifida aperta strongly indicate that a discrepancy exists between the occurrence of prenatal leg movements and the spinal localisation of the meningo-myelocele on the one hand, and between the occurrence of pre- and postnatal leg movements on the other hand (quantity and quality).

[Future prospects for children with spina bifida aperta]. / Toekomstperspectieven voor kinderen met 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. METHODS: Data were collected in 1994 regarding personal care, mobility, education, living conditions and employment of 163 patients alive and born in 1966-1990. They were divided into three groups according to their age, corresponding to the primary school period (n = 47), secondary school period (n = 37) and subsequent education or employment period (n = 79). All data were related to the level of the neurological lesion. RESULTS: A higher level of the neurological deficit corresponded with a lower probability of functioning independently in society. This was mainly caused by the concomitant mental handicap that occurs frequently in children with a high neurological deficit. Nine out of 46 adult patients with a deficit higher than LIII were living independently. Eleven of these 46 patients were (or had been) capable of attending regular education, and 7 of these 11 patients had a regular job. CONCLUSION: The prospects of children born with a meningomyelocele of reaching independence are relatively poor, depending on the level of neurological deficit.

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. All children were from middle-class Dutch families with no identified risk for tuberculosis. An extensive contact identification search could identify a contact in two patients. Two children were in an advanced stage of disease before diagnosis. Skin tests were repeatedly negative in all cases which delayed treatment in two cases for almost 2 weeks. One patient developing a cerebral tuberculous focus during therapy responded well to a second course of corticosteroids. Three children developed severe neurological sequelae. CONCLUSION: This report illustrates that suspicion of intracranial tuberculosis is warranted in the case of an ill-defined inflammatory neurological syndrome.

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. All 16 patients showed an identical profile of virtually absent developmental milestones, early-onset severe chorea, and microcephaly together with pontocerebellar hypoplasia. Family distribution supports autosomal recessive transmission. The present data support the PCH-2 phenotype as a distinct neurogenetic entity.

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.

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. This supports non-linkage of SMA to chromosome 5q in this family. The consanguinity of the parents raises the possibility of a second locus for autosomal recessive SMA type I outside the 5q12-13 region. This may have implications for genetic counselling after prenatal diagnosis in consanguineous families. Furthermore, this case illustrates the importance of the inclusion of all healthy sibs in prenatal DNA studies for SMA type I.

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. Overstretching with microtraumata of the myelum may be a more important factor.

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. An allergic autoimmune response with subsequent demyelinisation is assumed. The important role of MR-imaging in similar acute syndromes is emphasized.

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. Such calcification has not been reported in similar patients. Possible causes are discussed but the precise pathophysiology of this phenomenon remains unclear.