Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases.

Cold-induced sweating syndrome (CISS), a rare autosomal recessive disorder, is genetically heterogeneous. Deficiency of the CRLF1 and the CLCF1 gene functions results in CISS1 and CISS2, respectively. So far, only a single patient with CISS2 has been reported. Here we describe four new cases of CISS, two additional patients with CISS2 (confirming locus heterogeneity) and two patients with CISS1. Their case histories are given in detail to emphasize the striking similarity of their presentation, which makes a clinical differentiation impossible. All four cases had a uniform presentation in the neonatal period, much like Crisponi syndrome - inability to suckle and swallow due to facial and bulbar weakness; excessive startle and trismus-like facial contractions when crying or being handled; apnoeic spells; episodic unexplained fevers (up to 41 degrees C) and associated seizures or even sudden death; erythematous skin rashes; and camptodactyly. Thus it is evident that Crisponi syndrome is the pediatric manifestation of both CISS1 and CISS2. Signs abate during infancy and most children have a normal psychomotor development. During the first decade all children develop scoliosis and abnormal sweating which is the most disabling symptom in adulthood. We report that cold-induced sweating can be effectively treated. Detailed clinical observations, correlated with the findings from basic science research, may serve to elucidate the role(s) of this important cytokine complex in embryonic and postnatal development.

The combined burden of cognitive, executive function, and psychosocial problems in children with epilepsy: a population-based study.

The combined burden of psychosocial (Achenbach scales), cognitive (Raven matrices), and executive function (EF) problems was studied in a population-based sample of 6- to 12-year-old children with epilepsy (n=162; 99 males, 63 females) and in an age- and sex-matched control group (n=107; 62 males, 45 females). Approximately 35% of the children with epilepsy had severe non-verbal cognitive problems. In those that did not, mild cognitive problems (26% vs 11%, p=0.005), EF problems (31% vs 11%, p<0.001), and psychosocial problems (45% vs 10%, p<0.001) were each much more common than among controls. Having problems in two or all three of these areas simultaneously was more frequent among the children with epilepsy (14% vs. 3%, p<0.001 and 4% vs 0%, p<0.001 respectively). Excluding those having remote symptomatic epilepsy aetiology did not change the problem load significantly for the children with epilepsy with the important exception that having severe non-verbal problems was approximately halved from 35 to 18%. In 30 children with benign epilepsy of childhood with centrotemporal spikes, mild cognitive problems were somewhat more common, but psychosocial and EF problems were similar compared with control children.

Overweight and obesity in Norwegian children: secular trends in weight-for-height and skinfolds.

AIM: The prevalence of overweight and obesity in paediatric populations has been rapidly increasing in many countries over the past decades. The aims of the present study were to provide new data on weight-for-height and skinfolds, and to compare these to growth references for children between 3 and 17 years, collected in the same city between 1971 and 1974. MATERIAL: The present study is based on cross-sectional data of 4115 children (2086 boys and 2029 girls) aged 4-15 years measured in 2003-6. RESULTS: Overall, 18.0% of the boys and 20.1% of the girls were above the 90th weight-for-height percentile of the 1971-1974 references, 8.0% and 7.2% were above the 97.5th percentile, indicating an upward shift in weight-for-height. An even more prominent increase was observed for skinfold thicknesses; for triceps skinfolds about 30% of the boys and 28% of the girls were above the 90th percentile of the 1971-1974 references, and corresponding values for subscapular skinfolds were 26.5% and 25.9%. Using international cut-off values for body mass index, the overall prevalence of overweight and obesity was 12.5% and 2.1% in boys, and 14.8% and 2.9% in girls. CONCLUSIONS: Our study has demonstrated a significant increase in weight-for-height in Norwegian children over the last 30 years, and that these changes are caused by an increase in fat tissue, as shown by skinfold measurements. The current prevalence of overweight and obesity is comparable to recent estimates from most Western and Northern European countries.

Executive functions and seizure-related factors in children with epilepsy in Western Norway.

Executive functions (EFs), seizure-related factors, and school performance were studied in a population-based sample of children with epilepsy (n=117; 71 males, 46 females; mean age 10y 5mo [SD 2y]; range 6y-12y 11mo) and a comparison group (n=124; 71 males, 53 females; mean age 10y 1mo [SD 2y 1mo]; range 6y-12y 11mo). EF, cognitive function, depression, socioeconomic status, and school performance were examined. Patients with epilepsy performed significantly lower than the comparison group on all EF measures except incidental memory. Intellectual dysfunction and depression accounted for 43% of EF problems. All epilepsy syndrome groups (except Rolandic epilepsy) were associated with decreased EF in addition to early epilepsy onset, high seizure frequency, and polytherapy. Patients had more school performance problems than comparison children which were attributed partly to EF difficulties. All aspects of EF were affected in children with epilepsy and all epilepsy syndrome groups, except Rolandic epilepsy, influenced EF negatively. EF problems contributed to patients' school difficulties beyond intellectual dysfunction.

Psychosocial problems and seizure-related factors in children with epilepsy.

In this study we describe psychosocial functions and seizure-related factors in a population-based sample of children with epilepsy. Psychosocial problems (Achenbach scales), cognitive function, and socioeconomic status were studied in 117 children with epilepsy aged between 6 and 13 years (mean age 11y [SD 2y 1mo] and 10y 8mo [SD 2y]; 71 males, 46 females) and in randomly selected controls matched with 117 children for sex and age (mean age 11y 2mo [SD 2y 1mo] and 10y 5mo [SD 2y 4mo]; 69 males, 48 females). The children had partial (n=67), generalized (n=43), or undetermined (n=7) epilepsy syndromes, and partial (n=68), generalized (n=47), or other (n=2) main seizure types. Psychosocial problems were more common among children with epilepsy than controls (odds ratio 5-9) and significantly related to epilepsy syndrome, main seizure type, age at onset, and seizure frequency. Mothers and teachers reported males with epilepsy as having more problems than females. Females self-reported psychosocial problems, males did not. Psychosocial problems were common in childhood epilepsy. Females appreciated the problems more realistically than males. Psychosocial problems should be considered an integral part of epilepsy management.

Seizure-related factors and non-verbal intelligence in children with epilepsy. A population-based study from Western Norway.

PURPOSE: To study the relationship between seizure-related factors, non-verbal intelligence, and socio-economic status (SES) in a population-based sample of children with epilepsy. METHODS: The latest ILAE International classifications of epileptic seizures and syndromes were used to classify seizure types and epileptic syndromes in all 6-12 year old children (N=198) with epilepsy in Hordaland County, Norway. The children had neuropediatric and EEG examinations. Of the 198 patients, demographic characteristics were collected on 183 who participated in psychological studies including Raven matrices. 126 healthy controls underwent the same testing. Severe non-verbal problems (SNVP) were defined as a Raven score at or <10th percentile. RESULTS: Children with epilepsy were highly over-represented in the lowest Raven percentile group, whereas controls were highly over-represented in the higher percentile groups. SNVP were present in 43% of children with epilepsy and 3% of controls. These problems were especially common in children with remote symptomatic epilepsy aetiology, undetermined epilepsy syndromes, myoclonic seizures, early seizure debut, high seizure frequency and in children with polytherapy. Seizure-related characteristics that were not usually associated with SNVP were idiopathic epilepsies, localization related (LR) cryptogenic epilepsies, absence and simple partial seizures, and a late debut of epilepsy. Adjusting for socio-economic status factors did not significantly change results. CONCLUSIONS: In childhood epilepsy various seizure-related factors, but not SES factors, were associated with the presence or absence of SNVP. Such deficits may be especially common in children with remote symptomatic epilepsy aetiology and in complex and therapy resistant epilepsies. Low frequencies of SNVP may be found in children with idiopathic and LR cryptogenic epilepsy syndromes, simple partial or absence seizures and a late epilepsy debut. Our study contributes to an overall picture of cognitive function and its relation to central seizure characteristics in a childhood epilepsy population and can be useful for the follow-up team in developing therapy strategies that meet the individual needs of the child with epilepsy.

Children with bilateral temporal arachnoid cysts may have glutaric aciduria type 1 (GAT1); operation without knowing that may be harmful.

BACKGROUND: Bilateral, temporal arachnoid cysts are common in patients with Glutaric aciduria type 1 (GAT1). The present study investigates whether bitemporal cysts may occur unrelated to GAT1. and it reports our experience with 2 GAT1 patients. METHODS: During the last 11 years, the regional neurosurgical department has seen a total of 147 patients with arachnoid cysts in a population of 890,000. Eight of these patients had bitemporal arachnoid cysts, 4 boys, 3 adult females, and 1 adult male. Urine from 7 of these patients was examined with gas chromatography-mass spectrometry. FINDINGS: Large amounts of glutaric acid were discovered in the urine of only 2 of these patients, both young boys with severe neurological symptoms of the disease. One of them died 2 years after the clinical start of the disease. The remaining 5 urinary specimens contained low (normal) concentrations of glutaric acid. INTERPRETATION: For neurosurgeons, it is important to recognise that children with bitemporal arachnoid cysts may have GAT1, and that even simple surgical procedures may be extremely harmful for such patients. All paediatric patients with bitemporal arachnoid cysts should therefore be screened for GAT1 before any surgical procedure takes place, especially if there is also macrocephaly, an acute encephalitis-like illness, or a dystonic, cerebral palsy-like condition. It is concluded that bitemporal arachnoid cysts are extremely rare, and that they may well occur unrelated to GAT1.

Prevalence, classification, and severity of epilepsy in children in western Norway.

PURPOSE: To determine prevalence of active epilepsy in school children in a defined area and assess the usefulness of International League Against Epilepsy classification of seizures and epileptic syndromes, with special emphasis on frequency, additional handicaps, and therapeutic problems of severe cases. METHODS: The latest International League Against Epilepsy International Classification of Epileptic Seizures (ICES, 1981) and Epilepsies and Epileptic Syndromes (ICE, 1989) were used for determination of prevalence rates, seizure types, epilepsies and epileptic syndromes, and additional neurological deficits in all 6-to 12-year-old children with epilepsy in a Norwegian county. Children had neuropediatric and EEG examination, intelligence evaluation, and, when necessary, additional investigations. RESULTS: Prevalence of active epilepsy on January 1, 1995, was 5.1 per 1,000. Main seizure type and epilepsy syndrome could be classified in 98% and 90% of patients, respectively. Seizure types/epileptic syndromes were more often partial/localization related than generalized. Among generalized epilepsies, idiopathic forms were more frequent in girls, and cryptogenic and symptomatic forms more frequent in boys. Epileptogenic EEG activity was most often generalized or localized to one or two areas of the brain and was never found in 14% of patients. Symptomatic etiology was found in 46% of all children and in 81% of therapy-resistant cases, respectively. Over the years, 11% of children had never used antiepileptic drugs (AED), 62% had tried one or two AEDs, and 26% had tried from three to 15 AEDs. Twenty-five percent of children were without present AED treatment. Complementary/alternative medicine had been tried by 12% of children. CONCLUSIONS: Although most epilepsies could be classified, the number of cases in non-specific categories was relatively high. Symptomatic etiology was frequent, especially in therapy-resistant cases. Multidisciplinary therapeutic and habilitation approaches are often needed in childhood epilepsy.

Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity.

A boy with delayed psychomotor development, attention deficit disorder, and therapy-resistant epilepsy was treated with valproate. The patient died of liver failure after 4 months of valproate treatment. Postmortem investigation of cultured fibroblasts suggested medium chain acyl-CoA dehydrogenase deficiency, an unexpected finding since the boy had not presented typical manifestations of this disease. Because medium chain acyl-CoA dehydrogenase is an important enzyme in the beta-oxidation of fatty acids, our patient probably had a genetically reduced tolerance to valproate. This drug should be omitted in the treatment of seizures in patients with possible medium chain acyl-CoA dehydrogenase deficiency.

Low frequency mosaicism of normal cells in a 16-year-old girl with trisomy 18.

A 16-year-old girl with mosaicism of trisomy 18 has been followed from birth in our department. She had stigmata characteristic for trisomy 18. Chromosome analysis of lymphocytes showed trisomy 18 both at birth and at age 15, whereas analysis of fibroblasts at age 16 showed trisomy 18 with low frequency mosaicism of normal cells (4%). In most case reports, karyotype analyses have been performed in lymphocytes only. The low frequency mosaicism of normal cells found in fibroblasts from the present patient may raise the question of mosaicism in other long-living patients previously reported to be non-mosaic trisomy 18. The main disorders in the present patient were limited to severe mental deficiency, structural cerebral malformations and skeletal deformities, including bilateral equinovarus deformities. At birth, she had a ventricular septal defect which closed spontaneously. Frequent respiratory infections subsided after age 2. At age 7 she developed a seizure disorder. Since then, her medical condition has been stable. Even though patients with trisomy 18 rarely survive early childhood, the possibility that they may reach their teens must be kept in mind when treatment is planned. In our case, the decision not to treat her equinovarus deformities means that she cannot stand, a major problem in her everyday life.

Dysfunction of Holter Mini Elliptical valves caused by minor head trauma.

Two patients with implanted shunts suffered three disconnections of the shunt catheters from the valve chamber as a result of minor head trauma. In all instances a Holter Mini Elliptical valve had been used. The design of this valve may facilitate the kind of shunt dysfunction described. Suggestions are made for small changes in the shunt design or surgical procedures to obviate the vulnerability of the shunt to minor trauma.

[Diagnosis of Spielmayer-Vogt disease. Electron microscopy of conjunctival biopsy]. / Diagnostikk av Spielmeyer-Vogts sykdom. Elektronmikroskopi av konjunktivalbiopsi.

The authors describe ultrastructural changes in conjunctival specimens from five patients with Spielmeyer-Vogt-Batten's disease. Four of the specimens contained lysosomal "fingerprint-bodies", regarded as a specific lesion for this disease. When the biochemical defect remains unknown, the recognition of these ultrastructural changes is a valuable diagnostic tool to supplement clinical and electrophysiological examinations.

[Child neurology in a regional hospital]. / Barneneurologi ved regionsykehus.

During the period from 25 October 1988 to 13 June 1989, 624 (13.9%) of the 4,464 outpatients examined in the pediatric department, Haukeland hospital, had neurological problems. In 1986 730 (19.1%) of the 3,829 patients admitted to the pediatric department of nerological disorders. 41 (11%) of the 374 patients admitted to the department of neonatology in 1986 had disorders of the central nervous system (infections excepted). About 40% of the neurological patients suffered from convulsive disorders. Other groups of disorders were developmental retardation, learning disorders, cerebral palsy, mental retardation, hyperactivity, headache, infections and parainfectious diseases, intracranial tumours, hydrocephalus, spina bifida, chromosomal disorders, metabolic diseases, various syndromes and malformations, neuromuscular disorders, functional symptoms and neonatal neurological problems. The practice of child neurology is timeconsuming. The paediatric neurologist must be acquainted with children's developmental problems and the patterns of neurological symptoms seen in the various age groups. Assembling children with neurological disorders in a small, special department might improve the treatment of these patients considerably.

Dynamic aspects of expanding cava septi pellucidi et Vergae.

Two paediatric patients with expanding cysts of the cava Vergae et septi pellucidi are presented. In the first patient, consecutive CT scans showed a growing cavum thought to be responsible for his dramatic increase in head circumference. In the other patient, the expanding cavum was discovered because a routine skull X-ray after minor head trauma revealed marked impressiones digitatae. Both patients were successfully treated with stereotactically placed internal shunts from the cysts via the lateral ventricle to the subarachnoid space. During this procedure, contrast medium was instilled, and the cysts were visualized on postoperative CT scans. Some dynamic aspects of such expanding cava are discussed.

Left and right-handed dyslexic boys: an empirical test of some assumptions of the Geschwind-Behan hypothesis.

Twenty-six dyslexic boys (13 left-handers and 13 right-handers) were tested for hemispheric asymmetry with dichotic listening (DL) and a visual half-field test (VHF). The purpose of the study was an empirical test of the Geschwind-Behan [Proc. natn. Acad. Sci. USA 79, 5097-5100, 1982] hypothesis of a difference in hemispheric asymmetry between left- and right-handed dyslexic boys. Following Geschwind and Behan, left-handedness and dyslexia are caused by a common factor affecting the development of the left hemisphere in utero which results in a right hemisphere dominance. As a consequence, handedness but not language is shifted to the right hemisphere. We therefore predicted that left-handed dyslexics should be superior to right-handed dyslexics on visuospatial tasks, but perform similar to right-handers on verbal tasks. The results revealed a significant right ear advantage (REA) in both groups during a dichotic listening test to verbal stimuli. The left-handed group was however superior to the right-handed group in recognition of visuo-spatial stimuli presented in the left half-field in a visual half-field test. It is concluded that the results provide some, although weak, support for the Geschwind-Behan hypothesis.

Anthropometric studies in Norwegian children.

A mixed longitudinal study of 3,068 children and adolescents from Bergen was carried out in the years from 1971-74. Measurements of height, weight, four skinfolds, biacromial and biiliac diameters, head and arm circumferences, arm length and sitting height, were taken. Distance centile charts were constructed for all 12 variables. Annual height and weight increments were also studied. Children in Bergen were taller in 1971-74 than in 1956 and approached the 1970 values from Oslo. Bergen children were smaller than Dutch children but were taller than children from other Scandinavian countries and children from some other Western countries. Median age at peak height velocity was 13.6 years in boys and 12.2 years in girls. The weights of pubertal girls varied considerably with a tendency to weight loss in some subjects. Weight for height centiles of Bergen children 1971-74 were closer to the results from Bergen 1956 than to Oslo children in 1970. When weights and skinfolds of Bergen children were compared to materials from other countries, a more complicated pattern was found. A tendency to overweight seen in adolescents living in Western countries, was also observed in the present material. A set of weight for height curves based on the median curve and the median weights -10%, +10%, +20%, and +30%, respectively, was found to be more close to the normal situation. This set of curves should therefore be used in practical clinical work. Children from Bergen had head circumferences relatively close to Danish children and larger than the most widely used international standards. Bergen children had similar or higher median sitting height, biacromial and biiliac diameters than children from other countries. Arm circumferences of Bergen children were smaller than in Dutch children and relatively similar to children from other countries. The present growth study may be regarded as representative of normal Norwegian children in a period with a high standard of living and small differences between various subgroups of the population.