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Study design Retrospective, cross-sectional study. Objectives To investigate prevalence, types, and severity of fecal incontinence (FI) and constipation in adults with spina bifida (SB), in relation to self-perception and help-seeking, and to compare findings to data from a general population reference group. Setting University Medical Center Groningen (UMCG), the Netherlands. Methods The 294 adults with SB registered at UMCG in 2017 were invited to participate. The Groningen Defecation and Fecal Continence Questionnaire was used to assess functional outcomes for FI and constipation using Rome IV criteria. Vaizey (for FI) and Agachan (for constipation) scores were determined. Socio-demographic factors and self-perception of bowel-related problems were recorded through the questionnaire. Data were compared with an age and sex matched reference group. Results The completed questionnaires of 112 (38%) responding participants were analyzed. FI and constipation were more prevalent in the study group (35% and 45%, respectively) than in the reference group (8.9% and 22%, respectively). In general, in participants with SB aperta (SBA; n = 75), FI was more severe than in participants with SB occulta (SBO; n = 37). However, severity of FI was higher in SBO participants than in the SBA group after the age of 61. Bowel problems in adults with SB were associated with worse self-perception regarding health. Conclusions In adults with SB, anorectal dysfunction is often present and severe. Older persons with SBO experience more severe FI than in early age. Bowel problems should systematically and more adequately be addressed and controlled throughout adulthood in both the spina bifida groups.

Retrospective, cross-sectional study.To investigate prevalence, types, and severity of fecal incontinence (FI) and constipation in adults with spina bifida (SB), in relation to self-perception and help-seeking, and to compare findings to data from a general population reference group.University Medical Center Groningen (UMCG), the Netherlands.The 294 adults with SB registered at UMCG in 2017 were invited to participate. The Groningen Defecation and Fecal Continence Questionnaire was used to assess functional outcomes for FI and constipation using Rome IV criteria. Vaizey (for FI) and Agachan (for constipation) scores were determined. Socio-demographic factors and self-perception of bowel-related problems were recorded through the questionnaire. Data were compared with an age and sex matched reference group.The completed questionnaires of 112 (38%) responding participants were analyzed. FI and constipation were more prevalent in the study group (35% and 45%, respectively) than in the reference group (8.9% and 22%, respectively). In general, in participants with SB aperta (SBA; n = 75), FI was more severe than in participants with SB occulta (SBO; n = 37). However, severity of FI was higher in SBO participants than in the SBA group after the age of 61. Bowel problems in adults with SB were associated with worse self-perception regarding health.In adults with SB, anorectal dysfunction is often present and severe. Older persons with SBO experience more severe FI than in early age. Bowel problems should systematically and more adequately be addressed and controlled throughout adulthood in both the spina bifida groups.

Deze tevoren gezonde jongen is 8 jaar oud als hij in maart 2012 naar ons ziekenhuis wordt overgeplaatst. Ruim een week daarvoor is hij met hoge koorts uit school gekomen en heeft tweemaal gebraakt. Twee dagen daarna heeft hij nog steeds een temperatuur boven 39° C en toont hij vreemd gedrag, volgt geen opdrachten op, spreekt onduidelijk en ziet mannen die er niet zijn.

Acute flaccid myelitis (AFM) is a relatively rare disorder affecting the anterior horn of the spinal cord and brain stem. It is characterised by rapid progressive weakness of the limbs and respiratory muscles, often combined with cranial nerve dysfunction. This used to be seen in infections with the polio virus, but in recent years, AFM has been mainly associated with enterovirus D68 infection.A boy of nearly 4 years-old developed rapidly progressive weakness and respiratory failure after an upper airway infection. Initially, Guillain-Barré syndrome was suspected, but after further investigations enterovirus D68 was detected in the nasopharyngeal aspirate and the diagnosis of AFM was made.Progressive weakness after a respiratory tract infection should raise the suspicion of enterovirus-associated AFM. This syndrome can be distinguished from Guillain-Barré syndrome by its more rapid progression, asymmetrical weakness and greater involvement of the upper limbs. The diagnosis can be confirmed by typical findings on MRI and electromyography of the spinal cord and brain stem, combined with the detection of enterovirus D68 in nasopharyngeal specimens.

Wegrakingen komen op de kinderleeftijd vaak voor. De differentiaaldiagnose omvat syncope, dan wel bewustzijnsverlies van neurologische, psychogene of metabole origine. Als er sprake is van syncope dan is het meestal een onschuldige reflexsyncope, maar in een klein percentage kan het een cardiale syncope zijn met risico op acute dood. Het is dus zaak eerst syncope en niet-syncope (bijv. epilepsie) te onderscheiden en in geval van syncope te beoordelen of er sprake is van een onschuldige zaak dan wel van een risicovolle cardiale syncope. Er bestaat consensus dat met name de (familie)anamnese samen met lichamelijk onderzoek en een elektrocardiogram voldoende is om tussen de diverse categorieen te differentieren. Een voorwaarde is dat dan wel alle relevante vragen worden gesteld en de antwoorden op waarde worden beoordeeld.

We beschrijven een pasgeborene die op de vijfde dag na de geboorte stimulussensitieve symmetrische myoclonieen van de extremiteiten vertoonde. Deze myoclonieen reageerden niet op toediening van anti-epileptica (fenobarbital en clonazepam) en het elektro-encefalogram was volledig normaal. Aangezien de moeder gedurende de zwangerschap clomipramine (anafranil) had gebruikt, werd eenmalig een lage dosis hiervan aan het kind toegediend, waarop de myoclonieen verdwenen.

Een meisje van 14 jaar werd op de afdeling Spoedeisende Hulp gezien nadat zij een epileptische aanval had doorgemaakt. In de maanden daarvoor had zij enkele episoden gehad met motorische uitvalsverschijnselen en eenmaal ook een gedaald bewustzijn. Omdat zij na de epileptische aanval niet goed herstelde, werd verdere diagnostiek ingezet waarbij een primaire hypothyreoidie ten gevolge van de ziekte van Hashimoto werd vastgesteld. Bij een Hashimoto-thyreoiditis kan een scala aan neurologische verschijnselen optreden in het kader van een encefalopathie. De exacte ontstaanswijze van een Hashimoto-encefalopathie is onbekend, al zijn er sterke aanwijzingen dat het een auto-immuunaandoening betreft die over het algemeen goed en snel reageert op een behandeling met corticosteroiden. Tijdig herkennen van dit ziektebeeld voorkomt onnodige diagnostiek naar mogelijke andere aandoeningen.

Progressive walking difficulties and bladder dysfunction may be attributed to Alzheimer disease or atlanto-axial subluxation in people with Down's syndrome (DS). The present authors describe five patients with DS suffering from the above symptoms as a result of cervical spondylarthrotic myelopathy. Clinical and radiological data were collected from all patients with DS who underwent surgery for cervical spondylarthrotic myelopathy at the Leiden University Medical Centre during the period between 1991 and 1995. Five patients with DS (four males and one female) were identified. Their mean age at diagnosis was 42 years. The main clinical features were weakness of the arms and legs, ataxic gait, hyperreflexia and bilateral Babinski signs. Radiological examination showed spondylarthrosis, compression of the spinal cord and myelomalacia. The mean delay in diagnosis was 3 years. All five individuals showed clinical stabilization after laminectomy. Cervical spondylarthrotic myelopathy seems a rather frequent disorder in DS, occurring at a relatively young age. Early diagnosis may prevent irreversible neurological deficits.

Extrapolating the figures from a previous study on FSHD in a province of The Netherlands to the entire Dutch population suggests that at present a nearly complete overview is obtained of all symptomatic kindred. In 139 families, dominant inheritance was observed in 97, a pattern compatible with germline mosaicism in 6, while sporadic cases were found in 36 families. A mutation frequency of 9.6% was calculated. Mental retardation and severe retinal vasculopathy were reported in low frequencies (1%). Early onset was seen more frequently in sporadic cases. Chromosome 4 linkage appeared excluded in 3 of 22 autosomal-dominant families. The clinical pictures in the linked and nonlinked families were identical.

We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy. They showed the same broad range of clinical signs and symptoms as can be seen normally in FSHD. In 7 patients Southern blotting with p13E-11 was performed which showed an abnormal EcoRI fragment (13-22 kb) in 6 of them. We conclude that early onset FSHD does not differ from regular FSHD clinically or genetically. However, the precise mechanisms involved in the extensive clinical variability of the disease are still unknown.

To examine the impact of introduction of the mid-trimester scan on pregnancy outcome in cases of open spina bifida in two regions of The Netherlands.This was a retrospective cohort study of 190 cases of open spina bifida diagnosed pre- or postnatally, with an estimated date of delivery between 2003 and 2011.With implementation of the mid-trimester scan the percentage of cases of open spina bifida detected before the 24(th) week of pregnancy increased from 43% to 88%. The rise in prenatal detection rate was associated with a significant increase in the number of terminated pregnancies and a decrease in the rate of perinatal loss; the percentage of children born alive did not change significantly. In the subgroup that underwent a scan between 18 and 24 weeks of pregnancy, cranial signs were present in 94.4% of cases.Introduction of the mid-trimester scan has led to an increase in early identification of pregnancies complicated by open spina bifida. Pregnancies previously destined to end in perinatal loss are now terminated whilst pregnancies with a relatively good prognosis are frequently continued; the number of children with open spina bifida who are born alive has not changed significantly. Our study confirms that prenatal diagnosis is usually triggered by visualization of a lemon-shaped skull or a banana-shaped cerebellum.

A 9-year-old boy who since 3 years had been treated with a brace for presumed idiopathic thoracic scoliosis was referred because of severe syringomyelia on MRI of the spinal cord. Neuroimaging of the spinal cord had been performed because of back pain, although the patient had no neurological signs or symptoms. Besides extensive syringomyelia, the MRI revealed a type I Chiari's malformation which we assumed to be the primary cause of the syringomyelia and the subsequent scoliosis. Surgical decompression of the Chiari's malformation led to a remarkable reduction of the syringomyelia and to stabilisation of the scoliosis. In children with structural scoliosis, ancillary investigation in the way of neuroimaging of the spinal cord should be considered to exclude underlying spinal cord pathology, even in the absence of neurological abnormalities.

Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited partial epilepsy syndrome of early childhood with remission before the age of 3 years. The syndrome has been linked to loci on chromosomes 1q23, 2q24, 16p12-q12, and 19q in various families. The aim of this study was to identify the responsible locus in four unrelated Dutch families with BFIC. Two of the tested families had pure BFIC; in one family, affected individuals had BFIC followed by paroxysmal kinesigenic dyskinesias at later age, and in one family, BFIC was accompanied by later-onset focal epilepsy in older generations. Linkage analysis was performed for the known loci on chromosomes 1q23, 2q24, 16p12-q12, and 19q. The two families with pure BFIC were linked to chromosome 16p12-q12. Using recombinants from these and other published families, the chromosome 16-candidate gene region was reduced from 21.4 Mb (4.3 cm) to 2.7 Mb (0.0 cm). For the other two families, linkage to any of the known loci was unlikely. In conclusion, we confirm the linkage of pure BFIC to chromosome 16p12-q12, with further refinement of the locus. Furthermore, the lack of involvement of the known loci in two of the families indicates further genetic heterogeneity for BFIC.

To gain insight into the reporting and assessment of active termination of life in newborns in The Netherlands. DESIGN; Retrospective.Data on all cases of deliberate termination of life in newborns up to the age of 6 months, reported to the public prosecutor as from 1997 onward, were collected and compared.In January 1997-June 2004, 22 cases of deliberate termination of life in newborns were reported. All cases concerned newborns with spina bifida and hydrocephalus. Deliberate termination of life was acceptable to the physicians because of the presence of hopeless suffering, with no means of alleviating the suffering. In all cases, at least 2 doctors were consulted outside the medical team. In 17 of 22 cases, a multidisciplinary spina bifida team was consulted. All parents consented to the termination of life; in 4 cases they explicitly requested it. In 14 cases a combination of analgesics, sedatives and paralyzing drugs were used, in 8 cases only analgesics and sedatives were administered. For the public prosecutor the termination of life was acceptable if 4 requirements were properly fulfilled: the presence of hopeless and unbearable suffering, consent of the parents to termination of life, consultation having taken place and a careful execution ofthe termination. The mean time between reporting of the case and the decision concerning prosecution was 5.3 months. None of the cases led to prosecution.Three cases of deliberate termination of life in newborns were reported in The Netherlands annually. The public prosecutor used fixed criteria to assess the case and all cases of active termination of life reported were found to be in accordance with good practice.

To study the outcome of pregnancies with a prenatally diagnosed central nervous system (CNS) malformation.Leiden University Medical Centre is a tertiary referral center for fetal ultrasound and invasive prenatal diagnosis. Maternal and neonatal records of prenatally diagnosed CNS malformations were retrospectively reviewed over a 6-year period (1993-1998). Information on current development of surviving children was obtained by contacting the care-giving pediatric neurologist.During the study period 124 fetuses were diagnosed with a CNS malformation. Data on pregnancy and delivery were available for 118 pregnancies. Additional malformations were present in 47% of fetuses (55/118). A total of 46% of pregnancies (54/118) were terminated, and 15% (18/118) ended in spontaneous intrauterine death. A total of 39% of pregnancies (46/118) resulted in live birth, and 29 of the infants were still alive at the age of 3 months. One child was lost to follow-up, one infant died at the age of 4 months, and two children died at the age of 3 years. Psychomotor development of the remaining 25 children was normal for five, slightly disabled for seven, moderately disabled for five and severely disabled for eight.Due to the high rate of termination of pregnancy and to the frequent association with other anomalies, the survival rate of pregnancies in which a CNS defect had been diagnosed prenatally was only 25%. More than 50% of surviving children were moderately or severely disabled.

De zwangerschap van Joke verloopt prima. Ook bij de bevalling, die poliklinisch plaatsvindt, gaat alles vlot. De baby, een meisje dat Anne wordt genoemd, heeft een goede start. Aanvankelijk lijkt ze zich normaal te ontwikkelen, al vindt Joke de baby wel rustiger dan haar vorige, een gezonde zoon.

Editor—Maternal clomipramine use during pregnancy may cause epilepsy in newborns.1-3 We present the case of a neonate who developed a thus far unrecognised manifestation of clomipramine withdrawal. A 38 year old woman had been treated for depression throughout pregnancy with clomipramine (100 mg/day). No other medication had been taken. A boy weighing 3370 g was born at term; he had excellent Apgar scores. Two days later, the child was jittery following startling impulses. On the fifth day, simultaneous …

Four previously healthy children, two boys aged 5 and one boy and one girl aged 4 more or less acutely developed a stumbling gait. The causes varied from benign such as postviral acute cerebellar ataxia and benign paroxysmal vertigo to potentially life-threatening such as intoxication with benzodiazepines and medulloblastoma. Treatment led to complete or partial recovery. (Sub)acute balance disorders in previously healthy children can be due to cerebellar ataxia, vestibular disorders and abnormal proprioception. Ancillary investigations are warranted in case of gradually developing ataxia, accompanying neurological deficits, suspicion of intoxication, recurrent or familial ataxia, no spontaneous remission or even progression. In children with an isolated cerebellar ataxia without these features, ancillary investigations may be avoided, although in such cases careful follow-up remains necessary.

Three neonates had diverse kinds of central apnoea. The first child, a girl aged 3 weeks, had an upper respiratory tract infection caused by the respiratory syncytial virus; she was intubated and needed ventilatory support for three days. The second patient, a boy of 17 days, had an Arnold-Chiari-malformation with apnoeas treated with a carbonic anhydrase inhibitor (acetazolamide). The third patient, a boy of 5 days, had central apnoeas of epileptic origin and was treated with phenobarbital. All three recovered well. If in an infant with apnoeas no paediatric explanation is found, and the child is neurologically at risk, it is advisable to make an EEG to determine if an epileptic substrate is present, even in the absence of motor phenomena.

We determined the diagnostic value of the EEG in young children with Angelman syndrome (AS) and Rett syndrome (RS). EEGs, recorded before 5 years of age, of 10 patients with AS, 10 with RS and 10 with mental retardation of other origin were studied blindly by two examiners for the presence of the following items: (A) 4-6 Hz rhythmic activity of over 200 mu V; (B) 2-3 Hz frontal activity of 200-500 mu V; (C) posterior spikes; (D) triphasic frontal waves; (E) central and/or centro-temporal spike-wave complexes; and (F) other epileptic discharges. Based on these items the EEGs were scored as AS (A-D); RS (E-F); or other. Examiners never made a mistake between AS and RS. One examiner labeled 6 of 10 AS cases correctly, the other 5; 4 (5) were characterized as 'other.' In RS cases 5 were labeled as 'other' by the first examiner and 3 by the second one. We conclude that EEG patterns of AS and RS are sufficiently different to help differentiate between AS and RS at a young age, which has a bearing on genetic counseling. (C) 1998 Elsevier Science Ireland Ltd.

The first report of a positive effect of allogeneic bone marrow transplantation (BMT) on the clinical course in a patient with a lysosomal storage disease was described in 1981. Since then, over 200 patients have been treated in this way but data are scarce and fragmentary. Allogeneic BMT involves replacement of the patient's haemopoietic system by that of a donor. The new cells that repopulate the body can correct the metabolic disturbance. Most experience with allogeneic BMT was gained in patients with mucopolysaccharidosis type I, metachromatic leukodystrophy and adrenoleukodystrophy. Allogeneic BMT reduces the amount of storage material in internal organs: skeletal abnormalities and neurological symptoms are at best stabilized. Transplantation-related mortality and morbidity are high. The applicability of allogeneic BMT is limited.

The clinical findings in 12 Angelman syndrome (AS) patients (4 sib pairs and 4 sporadic cases, aged 12-55 years) without a cytogenetic or molecular detectable defect at the AS locus were compared to those of 28 AS patients (aged 11-50 years) with a deletion, in order to determine whether the clinical spectrum differed between the two groups. There were only two minor differences, i.e., mandibular prognathism was always found in the patients with a defect (100% vs. 58%), whereas truncal hypotonia was found less frequently in the group with a detectable genetic defect (54% vs. 91%). All other clinical and physical characteristics were equally represented in the two groups. Epileptic seizures occurred in 93% and 75%, respectively, of patients with and without a detectable chromosome 15 defect. Specific EEG patterns were found in 90% of both groups. The clinical signs and symptoms of our patients closely resemble those in familial AS cases reported in the literature, with the exception of scoliosis, which was present in 55% of the patients in our study. We conclude that the absence of a detectable cytogenetic or molecular defect at the AS locus is not associated with a strikingly different AS phenotype, compared to those with such a defect. Mutation analysis of the UBE3A gene in our patients without a detectable genetic defect, especially in the familial cases, is currently underway.

Koortsstuipen, een veelvoorkomende reden voor een spoedconsult, wordt in deze bijdrage besproken vanuit het perspectief van de kinderneuroloogkinderneurologie. Zowel de acute aanpak als het beleid op de langere termijn krijgt aandacht.

We studied the clinical and EEG-findings in 28 adult patients (aged 20-53 years) with Angelman syndrome (AS). Twenty-three showed a maternal chromosome 15q11-13 deletion; in 5, the diagnosis was based on a combination of typical clinical findings. Compared to the clinical manifestations present in childhood, "coarsening" of facial traits (100%), thoracic scoliosis (71%), and being wheelchair-bound (39%) were found more frequently. Paroxysms of laughter were still observed in adulthood (79%), but less frequently than in childhood. Most adult patients could feed themselves, but needed help with many daily activities. The majority (82%) had epileptic seizures. Abnormal EEG-activity consisting of 2-3/s rhythmic triphasic waves of high amplitude with a maximum over the frontal regions, which has been identified in many AS children, was found in 67% of these adult patients.

Patients with lysosomal storage disorders have visceral, skeletal, and neurological abnormalities and a limited life expectancy. Bone marrow transplantation has been used to correct the metabolic defects and leads to metabolic improvements in most patients. However, the long-term effect of such therapy is uncertain. We analysed the data from 63 patients transplanted for lysosomal storage diseases. The transplant-related mortality was 10% if an HLA-identical sibling marrow donor was available (n = 40) and 20-25% if mismatched tissue was used. Data on the effect of bone marrow transplantation on biochemical and clinical disease variables were available in 29 of the 63. 28 had a follow-up duration of 1.0-10.2 years; 1 patient died of disease progression in the first year after stable engraftment. 13 patients who had severe neurological symptoms at the time of transplantation showed disease progression. Engraftment of bone marrow in 5 patients with non-neuronopathic Gaucher's disease led to complete disappearance of symptoms. 11 patients had skeletal symptoms because of various mucopolysaccharidoses (MPSs). There was stabilisation of the skeletal lesions during the observation period of 1.4-6.4 years, but none of the patients showed significant regression of the skeletal symptoms. The visceral features (hepatosplenomegaly, cardiac hypertrophy, and upper airway obstruction) in these patients abated after transplantation. We could not evaluate the biochemical and clinical variables in 34 patients because of graft rejection, transplant-related mortality, or follow-up of less than 1 year. There were significant beneficial effects of bone marrow transplantation in patients with non-neuronopathic Gaucher's disease. Stabilisation of disease was observed in patients with MPS-I and MPS-II; this potential benefit needs to be confirmed by longer follow-up. Bone marrow transplantation was not effective if severe neurological symptoms were already present at the time of transplantation.

We have performed retinal fluorescein angiography and audiometry in 32 familial and 7 sporadic cases of facioscapulohumeral muscular dystrophy. A mild to moderate retinal vasculopathy, consisting of retinal teleangiectasis and microaneursyms, was present in 18 of 37 evaluable angiograms (49%); 5 patients had minimal changes and 14 angiograms (38%) were normal. High frequency hearing loss was found in 25 (64%) out of 39 patients. Retinal changes were absent in 5 of 18 families (6 cases examined), and after correction for age and sex, hearing function was normal in 5 of 19 families (7 cases examined). Age and severity of the myopathy did not have a clear relationship with the retinal vasculopathy or the hearing loss. There were no differences between families in which the myopathy was linked to chromosome 4q35 and families in which linkage could not be proven. Minimal retinal vascular changes and high tone hearing loss can be observed occasionally in the normal population. Therefore, although retinal vasculopathy and hearing loss are part of the clinical picture of FSHD, these signs cannot be accepted as decisive criteria for FSHD in clinically equivocal cases.

Conversion symptoms with a neurological character are not unusual in children. Little is known about prognosis. This study aimed to determine the outcome in a group of children with conversion.Over the period 1979-1989 35 children from 6 to 16 who met DSM-III-R criteria for conversion were selected from the case-records of the Child Neurology department of the University Hospital in Leiden. Case histories were analysed and 20 patients were interviewed at home and a standard questionnaire was used additionally.Conversion symptoms disappeared with time in 15 patients. In comparison with the control group, patients with conversion scored higher on nervousness.Conversion disorder runs a favourable course. The place of child psychiatric treatment should be analysed prospectively.

DNA studies in 22 families with Angelman syndrome (AS) were performed using the chromosome 15 marker loci D15S9, D15S10, D15S11, D15S12, D15S13, D15S18, D15S24, D15S86, the alpha-actin gene and the GABA beta 3 receptor gene (GABRB3). Uniparental disomy of chromosome 15 was excluded in all patients. Eighteen AS patients (82%) showed a molecular deletion of chromosome 15q11-q13 with one or more of these markers. No duplications of junction fragments, bridging deletions or duplication breakpoints were observed. The GABRB3 gene was deleted in all deletion-positive patients tested. Analysis of maternal DNA indicated that each deletion was a de novo event. All deletions were of maternal origin; this is in agreement with genomic imprinting in AS.

A genetic map of five polymorphic markers in the area of the facioscapulohumeral muscular dystrophy (FSHD) gene on chromosome 4q35-qter has been constructed. With these five markers, a number of recombinants have been identified that allow ordering of the marker and the disease loci. The most likely locus order and the relative position of the FSHD gene supported by the recombinants is centromere-D4S171-F11-D4S187-D4S163-D4S139-FS HD-telomere. However, at least one recombination event appears to be inconsistent with this order and suggests a location of FSHD proximal to D4S139.

We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormalities were present in the whole group. About half of the cases had cleft lip/palate, anophthalmia/microphthalmia, or a cardiac defect. Mental retardation was found in five of the surviving 11 patients and early death occurred in one-third. We compared the cases with OAVS and hydrocephalus with published reports of OAVS and other cerebral anomalies and found no significant clinical differences. However, the clinical characteristics were clearly more severely expressed than generally found in patients with OAVS. Children with OAVS and more severe clinical features, especially anophthalmia/microphthalmia and cleft lip/palate, seem to be at an increased risk for cerebral malformations and for mental retardation.

In 80 children the clinical features of sudden changes of consciousness, motor activity and/or behavior were studied retrospectively. Epileptic and non-epileptic seizures could not be separated because of specific clinical characteristics in this population, although breath holding spells have some rather distinguishing features. The greatest problem was the lack of detailed clinical information in many cases. A group of children remains with paroxysmal events of unknown origin, but from this material the prognosis of them seems to be good. The clinician should be able to differentiate epileptic from non-epileptic seizures by taking a careful history based upon a detailed knowledge of the different kinds of both epileptic and non-epileptic attacks.

The Angelman ('happy puppet') syndrome is clinically characterized by severe mental retardation without any development of speech, a happy disposition with paroxysms of laughter, a stiff-atactic gait with arms in flexion and abduction, epileptic seizures, EEG-abnormalities, and some dysmorphic features like prognathism, macrosomia, tongue protrusion and brachycephaly and/or microcephaly. The genetic background is still obscure, but in some patients with this syndrome small deletions in the long arm of chromosome 15 have been found. So further investigation of this probably rather frequent syndrome seems appropriate.

A family is described containing three sibs with holoprosencephaly. They showed a striking diversity of both cerebral and facial abnormalities. Autosomal recessive inheritance seems most likely. Because of the great variety in expression of this disorder, it is of importance for genetic counselling to examine both sibs and parents.

The history of a girl is described who experienced two separate episodes of acute confusion with agitation. The first occurred at the age of four after a mild head injury, the second recently at the age of thirteen after prolonged physical effort. EEG's performed during both episodes showed marked diffuse slowing. Both clinical picture and EEG normalized rapidly. Clinical features and prompt recovery made the diagnosis 'acute confusional migraine' most likely. The relevant literature and importance of recognizing the syndrome are discussed

A girl with periodic weakness since the age of two, is presented. Not until four years after the first symptoms appeared hypokalaemic periodic paralysis was diagnosed. Some aspects of this disease are discussed.