abstracts for poster presentations

Abstracts for poster presentations

25 Early-onset benign leukodystrophy - a new hereditary disease: CT, MR and clinical study T AUTTI, M MUlTILAINEN, R RAININKO, J PURANEN, A-M H;iKKINEN, H HEISKALA, P SANTAVUORI, P SUOMINEN, M SOMER Departments of Radiology and Anaesthesiology; Department of Paediatric Neurology, Hospital for Sick Children and Adolescents, Helsinki University, Finland; Department of Paediatrics, Hospital, Espoo, Finland; Department of Diagnostic Radiology, Uppsala University, Uppsala, Sweden; Rinnekoti Foundation, Espoo, Finland

Three subjects (a 30-year-old father and his two sons aged 6 and 8 years) with extremely slight neurological symptoms and their five close relatives (parents and three half-sisters of the father) were examined clinically and with magnetic resonance imaging (MRI). Previous computed tomography (CT) scans and MRI were re- evaluated. The clinical symptoms of the three subjects were extremely mild and no abnormalities were found in the neurophysiological or biochemical (including urinary ammo-acid screening, arylsulphatase and sulphatides and quantitative assays of plasma amino-acids as well as serum cortisone and very long chain fatty acids) examinations. MRI of the brains revealed large white matter changes similar to those seen in leukodystrophies in the frontal, parietal and partly in the occipital lobes of the patients. The white matter beneath the motor cortex was not affected. Brain volume was normal and the grey matter showed signal intensities. No progression of the disease could be detected in 13 year follow-up of the father. The proton magnetic resonance spectroscopy of the father at the age of 30 years showed normal ratios between the main metabolites (N-acetyl aspartate, choline and creature) in the affected white matter and thalami. MRIs of the close relatives were normal suggesting a fresh mutation in the father.

26 Provocation of complex partial status epilepticus by tiagabine in paediatric patients T BALSLEV, P ULDALL, J BUCHHOLT Aarhus University Hospital, State University Hospital, Copenhagen; Dianalund Hospital, Denmark

A 12-year-old girl had frequent simple partial seizures, infrequent complex partial seizures and rare secondary generalization. She was treated with vigabatrin. Add-on treatment with tiagabine initially reduced the seizure frequency somewhat. At dosage 22.5 mg daily (0.54 mg/kg) exacerbation of seizures including long-

standing staring spells with purposeless and stereotypic movements of the hand were seen.

An 11-year-old girl with frontal lobe partial epilepsy and intractable epilepsy experienced long-standing complex seizures (30 min) when the dosage was increased to 30mg a day (0.65 mg/kg). In both cases the long-standing seizures disappeared when the doses were diminished.

Provocation of complex partial status by tiagabine at dosage 48-60 mg has been reported in adults. The mechanism is unknown. This is the first report of exacerbation of seizures by tiagabine in childhood.

Tiagabine inhibits the uptake of y-aminobutyric acid (GABA) in glial and neural cells and thereby increases the level of GABA in the presynaptic cleft. This report suggests paediatric patients on moderate to high dosages (> 50mg/kg/day) of tiagabine should be closely mon- itored for exacerbation of seizures, especially complex partial status epilepticus.

27 Parental perception of the process of habilitation I BJERRE, M LARSSON et a/. Department of Paediatrics, Child Habilitation Centre, Malmd’ University Hospital, Malmd;, Sweden

The purpose of this study is to try the Measure of Processes of Care (MPOC) in four Swedish habilitation centres in order to find out if it would be useful in assessing habilitation processes in Sweden. The MPOC is designed to assess family-centred behaviour of health care providers. We translated it into Swedish and sent it to the parents of 850 children in four habilitation centres (Karlstad, Lund, Malmii and Visby). The children were from 0 to 20 years of age and chosen at random from the registers of the centres.

In all, 75% of the parents answered but some answers were fragmentary. About 500 questionnaires (60%) were complete enough to be analysed. The questions con- cerned the parents’ perception of habilitation during the previous year. It comprised 56 questions covering five areas: 1) enabling and partnership, 2) providing general information, 3) providing specific information about the child, 4) coordinated and comprehensive care, and 5) respectful and supportive care.

We found the answers to the questionnaire by parents in Sweden to be well in accordance with those by parents in Canada (reliability tested with Cronbach’s alpha was high for all the scales - between 0.8009 and 0.9573). There were significant differences between the habilitation centres concerning general and specific information, between different disabilities and handicaps (those with mental retardation and vision impairment were less

Abstracts for poster presentations A31

content with their habilitation services) and between age groups (parents of younger children were more satisfied than those of older children).

Our conclusion is that the MPOC would be a useful measure of the habilitation process in Sweden.

28 Neuropsychological findings in children with benign childhood epilepsy with centrotemporal spikes (BCECTS) C CROONA,’ M KIHLGREN,’ S LUNDBERC,2 0 EEC-OLOFSSON,’ K E EEC-OLOFSSON3 ‘Department of Psychology, Uppsala University; ‘Department of Paediatrics, University Children‘s Hospital; 3Department of Clinical Neurophysiology, University Hospital, Uppsala, Sweden

Due to findings of cognitive deficits in children with BCECTS the favourable prognosis of this epileptic syndrome has recently been challenged. Verbal dysfunction as well as impaired visuomotor coordination, learning disabilities and attention deficit have been reported.

Methods: Seventeen children, ten boys and seven girls, aged 7-14 years, with seizure onset between three and 10 years were investigated using: neuropsychological tests focusing on capacity to register and recall auditory- verbal and visuospatial material, processing speed, verbal fluency, problem-solving ability and visuospatial constructional ability; Raven’s coloured matrices to measure intellectual abilities; questionnaires to the teachers and parents regarding academic achievement and behaviour. In addition a control group was investigated in which the children were matched according to age at testing, gender and intelligence.

Results: Children with BCECTS had significantly lower scores than their controls on tests concerning immediate and delayed recall of auditory-verbal material, verbal fluency and problem solving ability. Results of memory for visuospatial material, processing speed and visuo-spatial constructional ability did not differ between the groups, neither did intellectual abilities. According to teachers there were no group differences in academic achievement and behaviour. Parents, however, recognized greater difficulties with distract- ibility, concentration, temper, impulsiveness and ability to understand instructions in children with BCECTS.

Conchdon: BCECTS seems not to be ‘benign’ in its development since neuropsychological deficits are present in many children. The BCECTS group need to be followed longitudinally to prove the importance of the findings.

The clinical significance of the results has to be further evaluated.

29 Project ‘Anonymous’ - An organization for families with severely brain-diseased children without diagnosis 6 HAGBERG Department of Paediatrics, d;stra University Hospital, Gtiteborg, Sweden

To have a child with a hopelessly progressive brain disorder is a hard burden for any family. When, after meticulous efforts there still is no diagnosis obtained, the situation is even more distressing. There are no experi- ences to learn from; nothing to grasp at for help; no hope for meaningful treatment; no interest group to join; not even a name for the appalling condition.

The situation illustrated above is not unique. In Sweden, progressive brain disorders are as frequent as neural tube defects and hemiplegic cerebral palsy, i.e. 0.5-0.6 per 1000. To date around 500 different disorders have been identified. However, there is a huge number of conditions still unsolved.

In addition, we know that there is an even larger group of children with unexplained non-progressive prenatal encephalopathies. Many such families have ended up in a similar situation of despair and disappointment after years of searching for a diagnosis.

As a consultant I have met these problems all over Sweden. As a consequence ‘Anonymous’ was initiated in 1994 as a network for support and information for the families. It was rapidly established and in 1998 comprises over 120 families.

Of the ‘Anonymous’ children so far involved, 95% fall into one of two principal groups of clinical categories: 1) unknown progressive encephalopathies (one-third of cases), and 2) non-progressive encephalopathies where defined syndromes and malformations have been excluded (two-thirds of cases). In both, genetic back- grounds are frequent. Within the stationary group many show ‘white matter’ magnetic resonance imaging pathology indicating dysmyelination.

30 Intact brain-adrenal-axis: A prerequisite or an associated phenomenon in favourable ACTH response in infants with West syndrome? H HEISKALA Rinnekoti Foundation, Espoo, Finland

Individualized adrenocorticotropic hormone (ACTH) treatment of West syndrome was assessed in a prospec- tive study, in which each patient’s (n = 30) dosage was increased stepwise according to response. During the treatment period the total ACTH dose ranged from 58 (rapid responders) to 373 (non-responders) ID/kg. Most of the cryptogenic patients with a favourable outcome responded to the lowest dosage, whereas most of the symptomatic patients needed higher doses. Complications such as arterial hypertension, cerebral ventricle dilatation, cardiac hypertrophy, and prolonged

A32 Abstracts: 26th Meeting Scandinavian Neuropediatric Society

adrenocortical hyporesponsiveness were related to the dose. Prior to treatment, the levels of cerebrospinal fluid (CSF) ACTH were significantly higher in infants with cryptogenic spasms and normal development than in those with symptomatic spasms and delayed development, higher levels probably resulting from intact stress stimulation. At response, the infants could be divided into three groups: 1) short-course, low-dose responders with a CSF ACTH decline; 2) long-course, high-dose responders with a tendency towards an upward incline, and 3) non-responders with no significant CSF ACTH changes. The changes in CSF beta-endorphin were somewhat similar, but the greater variability did not allow statistical significance. Rapid response hypotheti- cally could signify normalization of brain-adrenal-axis imbalance in response to the exogenous ACTH in those infants with relatively intact brains. More delayed responses could involve more complex regulatory systems in those infants with brain abnormality.

31 Continuous intrathecal infusion of baclofen for treatment of children with spasticity and dystonia N ILLUM, F JUUL HANSEN, 0 AMTOFT NIELSEN Departments of Paediatrics and Neurosurgery, State University Hospital, Copenhagen, Denmark

Management of severe spasticity and especially dystonia in children is often difficult and orally administered medications may offer limited benefits. Eleven children from 7 to 18 years old suffered from severe dystonic tetraplegia and were tested with intrathecally administered baclofen (Lioresal’g) with positive results. Five of these children to date have been operated with implanta- tion of a continuous infusion pump and intraspinal catheter system. A catheter was placed in the lumbar subarachnoid space at L3-4 and passed in a cephalad direction to Th12-4, depending on intended effect on upper extremities. The continuous infusion pump (IP 20.1 from Tricomed Medicintechnik GmbH) is gas-driven with a constant infusion rate of 0.35ml/day. Filling volume is 20 ml and refilling takes place approximately every 45 days. Dosages from 8 to 10 mg per filling were initially used and with subsequent increasing steps to administered doses of 200 to 360 pg/day. (Lioresal concentrations of 0.5 mg/ml and 2.0 mg/ml are used.) One pump had to be removed due to local infection and in one child a temporary pump pocked effusion occurred. All remaining pumps have now been in use for 1.5 to 3.5 years. We registered no episodes of hypotension, bradycardia, sedation, respiratory depres- sion or apnoea. Each child had improved ease of care and increased tolerance of handling and with Ashworth Scale rating generally improved one to two steps, although with some variability on a daily basis. Unfortunately we observed no weight gain in one very slim child. It is concluded that children with severe spasticity and dystonia can benefit from intrathecal continuous baclofen infusion.

32 Hand function in children 1-12 years of age K JENSEN Paediatric Occupational Therapy, State University Hospital, Copenhagen, Denmark

This is a quantitative study of hand function in children 1-12 years of age. The aim is to construct a test to access which level of development the child has reached.

A total of 132 normal children from Copenhagen, randomly selected, were given tasks involving varying degrees of manual dexterity, according to the normal development of hand skills. Children from the age of 1 year old were presented with tasks incorporating grasp and release, pincer grasp, bilateral hand usage and eye- hand coordination.

From the age of 3 years, children were expected to perform tasks demanding a more precise and coordinated grasp and release, pincer grasp, pencil grasp, as well as bilateral activities with active use of one hand while the other holds or stabilizes an object.

From the age of 6, children were expected to have gamed control of intrinsic muscles of the hand, providing dexterity and precision of movements. In addition, they were expected to be able to manipulate an object with both hands performing different movements simulta- neously.

The results indicate that hand skills develop in a natural order, following the same basic sequence in every child. There is a significant correlation between the child’s age and the speed with which he/she performs manual activities. It is hereby possible to construct a series of tasks which assess a child’s fine-motor abilities in relation to his/her age. It is also possible to express hand function in percentiles by comparing the child’s performance to the performance according to age-related norms.

33 Oral sumatriptan in adolescents A C KORSCAARD Neurology Specialist Clinic, Odense, Denmark

Four double-blind, placebo-controlled clinical studies have evaluated sumatriptan in adolescents (11-18 years), suffering from migraine with or without aura (International Headache Society) for at least 3 months. The first two studies evaluated the efficacy and safety of oral sumatriptan 50 mg (patients weighing 30-50 kg) or sumatriptan 100 mg (patients weighing > 50 kg).

Sumatriptan was well tolerated in the two studies. On a four-point combined headache/disability scale no statistically significant difference between the sumatriptan groups and the placebo group was seen. However, in one study the sumatriptan groups were significantly superior to placebo with regard to time to return to normal activities, and in the other study with regard to time to complete headache relief.


Two studies evaluating 25mg, 50mg, and 100mg sumatriptan, in 577 patients, were both inconclusive, partly due to high placebo responses.

Several reasons could explain the inconclusive results of these studies: 1. The high response to sleep among adolescents. 2. In the first two studies the lower limit of duration of

symptoms was 3 months; thus diagnoses may have been uncertain.

3. Insufficient sensitivity of the combined headache/ disability scale used in the first two studies.

4. The adolescent population may have higher expecta- tions of headache relief than adults. Case stories of sumatriptan treatment of adolescents

will be presented, and suggestions for a new study protocol will be discussed.

34 Tourette syndrome: Neurological, sensory motor and neuropsychological examination A G KORSGAARD Neurology Specialist Clinic, Odense, Denmark

A total of 19 boys aged 7-12 years with Tourette syndrome (TS) were examined by a specialist in neurology, an occupational therapist and a neuropsychologist. All children fulfilled the international criteria for TS DSM3R and were selected for the project if they had a history of either learning disability, obsessive compulsive behaviour, attention deficit, or hyperactivity.

The purpose was to illustrate: 1. How these three professional examinations support

each other in uncovering the total function in TS- children.

2. Is there a correlation between sensory motor and neuropsychological examinations. Twelve children had cognitive dysfunction, including

perceptual problems in sensory motor tests. Clear agreement was found in these 12 between short-term memory and attention deficit; 18 of 19 had one or more areas of dysfunctions in sensory motor testing.

A multiprofessional approach to patients is very important in Tourette syndrome.

35 Migraine and tension headache in children and adolescents - more common today than 40 years ago? K LAURELL, 0 EEG-OLOFSSON Department of Paediatrics, University Children’s Hospital and Department of Rehabilitation, University Hospital, Uppsala, Sweden

Introduction: In 1955 the prevalence of headache was studied in 9000 schoolchildren, 7-15 years old, by Bo Bille, Uppsala. The prevalence of migraine was 4%, and 6.8% concerning frequent non-migrainous headache (probable tension headache).

Purpose: To investigate the 1997 prevalence of migraine and tension headache in children and adolescents in Uppsala.

Methods: 1850 students aged 7-15 years are included. We adapted the methods used in the Bille study including questionnaires and interview. The methodology has been tested in two pilot studies: The first (Uppsala, 1994) comprised 266 schoolchildren, 7-15 years old, and the other one (Lemshaga, 1996) 161 children aged 3-12 years.

Results: In both pilot studies the prevalence of migraine was more than twice that of the 1950 study. Tension headache was found in about one in ten of the children. Concerning the total prevalence of headache there was no increase. These results will be discussed and preliminary results from the ongoing investigation reported.

36 Demonstration of HSV-DNA in cerebrospinal fluid and serum in neonates with herpes simplex virus (HSV) infections G MALM,’ M FORSGREN’ Department of ‘faediatrics and ‘Virology, Huddinge University Hospital, Sweden

Neonatal HSV infections are serious but rare diseases. Early treatment is a prerequisite for beneficial effect. The polymerase chain reaction (PCR) used for detection of HSV-DNA in cerebrospinal fluid (CSF) has been of crucial significance for rapid diagnosis in encephalitis; however, the sensitivity has been reported to be lower in neonates than in adults. Frozen CSF and sera from 34 children with neonatal HSV-infections, five with dis- seminated and 29 with only central nervous sytem disease, diagnosed between 1973-1995 were retrospec- tively analysed by nested PCR-technique against HSV-1 and HSV-2; in 21 children both CSF and sera were available, in another four children only CSF and in nine children only sera. In 21 children with both specimens available, positive PCR was found in 19 children (90%), in one or both specimens. Positive HSV-DNA was found in CSF in 19 (76%) of 25 analysed children and in sera in 20 (67%) of 30 children. Positive PCR was still found in CSF in a child, later dead, 6 days after a lo-day course of intravenous aciclovir and in another child, severely damaged, 24 days after 21 days course of intravenous aciclovir. Our findings indicate that PCR analysis of both CSF and serum reinforce the diagnostic sensitivity in neonatal herpes. It does not replace the search for virus in other localizations and the use of other diagnostic tools as well, in clinically suspected cases of neonatal herpes.

37 Early methods of habilitation of small children with neurological disorders at Kaunas Kalnieciu Polyclinic L MASlONYTi Kalnieciu Polyclinic, Savanoriu, Kaunas, Lithuania

Public opinion in Lithuania stands for isolation for retarded children at central medical, developmental


and protection institutions. As of 1996 there were no mini-centres to give help (medical, psychological or social) to such children under 4 years old and their families.

On 1 September 1996 at Kalnieciu polyclinic three work rooms with special equipment were established. The main idea was to help the children who live in the district of our polyclinic. Parents bring l-month-old babies with risk factors to the polyclinic where they are examined by specialists. Ailing children are sent for physiotherapy courses and supervised by the neurologist.

The early correction team consists of three specialists: neurologist, physiotherapist and speech language pathol- ogist. The specialists apply the Bobath method. Last year 35 children were looked after.

The best results are in those cases where contacts with parents are good and they handle and do physical exercises with their babies by themselves regularly at home.

38 Mortality of Danish children with cerebral palsy of pre- or perinatal aetiology J D NIELSEN, P ULDALL, M TOPP Department of Paedialrics, State University Hospital, Copenhagen, Denmark

The Cerebral Palsy Register in Denmark includes subjects born after 1940 and covers Denmark east of Lillebaelt with about 50% of the Danish population.

Death certificates from the Danish Central Person Register have been used to register mortality of children with cerebral palsy born 1971-1986 (n = 1093).

The mean registration time was 17.5 years. The total mortality was found to be 7%. It was closely linked to intelligence (IQ > 85: 1.7%, IQ 85-51: 6.7%, IQ < 50: 18%/o), motor handicap (unassisted walking: 1.7%, assisted walking 1.3%, no walking 21.5%), and subclassification of cerebral palsy (highest mortality found in tetraplegia).

No difference in mortality was found when children born 1971-1978 were compared with children born 1979- 1986.

Furthermore, when a similar mortality study of children born 1940-1945 from the register was compared with the present very little change in the mortality was observed.

39 lack of seizures and hyperexitability in Krabbe’s disease treated with vigabatrin L B NIELSEN, E A ANDERSEN Department of Paediatrics, Nybbing Falster, Denmark

A boy born after an uneventful pregnancy at term was admitted to the paediatric ward at 6 weeks of age due to vomiting, which resolved spontaneously. Intermittent causeless crying and quivering were noted. He was readmitted at 6 months old with delayed development, universal rigidity and inconsolable crying. Ultrasound

revealed ventricular dilatation and the boy was trans- ferred to Rigshospitalet, Copenhagen University Hospital. A computed tomography scan showed cerebral atrophy. Due to loss of milestones a progressive encephalopathy was suspected. A total lack of galacto- sylceramide beta-galactosidase in leucocytes and fibroblasts was found and Krabbe’s disease was diagnosed.

Medication with baclofen was started and later supplemented with paracetamol and morphine, but hyperirritability and rigidity were not eliminated. Hence vigabatrin was instituted with 30mg/kg/day and after increasing the dose to 50 mg/kg/day 1 week later the boy showed less irritability, crying and rigidity. Symptoms reoccurred 2 weeks later and vibagatrin was further increased with good effect. The co-medication was regulated according to weight regularly, but without the same success as when vigabatrin was increased. Once or twice a month vigabatrin is increased and the boy (15 months old) has as yet had no seizures! The current dose is 285 mg/kg/day and no side-effects have been noted.

Blood tests including complete blood count, liver function tests, blood/urea/nitrogen, electrolytes, cal- cium and phosphorus are all within normal range.

40 Multiprofessional follow-up after palliative surgical treatment of children with hypoplastic left heart syndrome (HLHS) M RASMUSSEN,’ P HACEMO,’ C BRYHN,’ I H VANDVIK3 Department of Paediatrics, Sections of ‘Child Neurology, ‘Paediatric Cardiology and ‘Child and Adolescent Psychiatry, Rikshospitalet, Oslo, Norway

Untreated, HLHS is uniformly fatal with more than 95% of the deaths occurring in the neonatal period. Since 1990 Norwegian children with HLHS have been sent abroad for surgical treatment consisting of three consecutive procedures, completed at 12-18 months of age. By May 1996 a total of 31 children had undergone at least one of the procedures. Ten of the 12 children who were alive, having completed the operative programme, were investigated by a paediatric cardiologist, a child neurologist and a neuropsychologist.

The parents were interviewed by a child psychiatrist. None of the children had a severely affected cardio-

logical function, four were moderately affected. Three of the children were microcephalic. Seven were considered to have one or more slightly dysmorphic traits. One child had epilepsy. Delayed motor development, most often to a mild degree, was found in seven children. Two were mentally retarded and one also had autistic traits. Six had attention problems. The parents reported to be satisfied with their own lives and with the quality of life of their children. An important question is to what extent congenital, respectively acquired pathology in children with HLHS can explain the abnormal neurological/ neuropsychological findings.


41 Dysimmune neuropathy: A follow-up study of 39 children K RISBERG, M KYLLERMAN, E BECKUNG Department of Child Neurology, Habilitation and Neuropsychiatric, Sahlgren University Hospital, EastKXteborg, Sweden

Chronic inflammatory dysimmune neuropathy (CIDP) may take on a rapidly progressive or relapsing course. Deterioration may be reversed by steroids and relapse reduced by immunosuppression. Onset is slower (usually 4 weeks) than in acute inflammatory dysimmune neuropathy, Guillain-Barre syndrome (AIDDP) which responds to intravenous immunoglobulin treatment.

We collected 26 subjects with typical CIDDP (mean onset age 7 years) four who developed transverse myelitis (mean onset age 5 years), six with a familial form with optic and acoustic nerve affection (mean onset age 12 months), two with congenital CIDP, and one with autonomic nerve CJDP (onset age 12 years).

Altogether 55 relapses occurred in 20 patients. The WHO handicap classification for typical CIDP gave a total score of 0 in 17/26 and scores 1-11 in 9/26. In the combined other groups all had persisting handicap, the median score was 15 (9-35). In the typical CIDP group 20/26 were treated with prednisolone and/or azathioprine. Treatment had not been randomized and six cases with mild affection and short duration had not been given prednisolone; 14 of 20 had no remaining handicap and 6/20 median score 6. Three of six non-treated subjects had no handicap and three median score 2. Treated subjects had suffered more relapses indicating more aggressive disease than non-treated subjects.

Considering a general dismal outcome in CIDP the results of prednisolone-azathioprine treatment were encouraging.

42 Lamotrigine treatment of autistic behaviour disturbances. Three case reports B TONNBY The Child Clinic, Halmstad Hospital, Sweden

Lamotrigine (LTG) is a new anticonvulsant with established efficacy in epilepsy in children. This has been demonstrated in several studies. LTG is believed to act by inhibiting the stimulated presynaptic release of glutamate and possess mood stabilizing properties besides its effect on seizure frequency.

Autism is a neuropsychiatric syndrome, which can be the result of a brain dysfunction with known or unknown aetiology. There have been speculations of malfunctions in the specific synaptic systems as a cause in some cases. Besides the diagnostic triad of restriction of social interaction, reciprocal communication and imagination, many autistic children have prominent behaviour disturbances. Epilepsy is also very frequent and is found in about 40% of the subjects.

When treating epilepsy in autistic children with LTG some children showed a striking positive change in their behaviour as well as a good result on the seizures.

Three cases will be reported.

43 Quantitative proton magnetic resonance spectroscopy and defective myelination in Salla disease T VARHO, M KOMU, P SONNINEN, I HOLOPAINEN, . . . . T MANNER, M SILLANPAA, PAULA, N LUNDBLOM Department of Medical Genetics, University of Turku, Finland

Defective myelination is a constant magnetic resonance imaging (MRf) finding in Salla disease, an autosomal recessive free sialic acid storage disorder, where our fluorodeoxyglucose-positron emission tomography (FDG-PET) study has revealed increased glucose utiliza- tion in the cerebral cortex and basal ganglia. To further elucidate the brain pathophysiology of the disease we studied eight patients aged 6-44 years and eight age- matched healthy volunteers with MRI and proton magnetic resonance spectroscopy (‘H-MES). The spectra were obtained from two selected 8 ml volumes-of- interest localized in basal ganglia and in parietal white matter at 1.5 T. N-Acetylaspartate (NAA), creatine, phosphocreatine (Cr) and choline (Cho) resonances were analysed quantitatively with water and metabolite reference.

In parietal white matter ‘H-MRS revealed 34% higher NAA and 47% higher Cr concentrations, and 35% lower Cho concentration in Salla disease patients. The patients had 22% higher water content in parietal white matter, whereas in basal ganglia the water concentrations did not differ significantly. In the basal ganglia of the patients, Cr concentration was 53% higher. The high Cr is in line with the increased glucose uptake in FDG-PET and probably reflects active gliosis or neuronal repair attempt or both. The high NAA may be a sign of neuronal repair attempt as well. Low Cho in parietal white matter is in concordance with a small pool of membrane turnover metabolites in hypomyelination. Our study shows the importance of quantitative assessment of metabolite concentrations in 1H-MR!3 for detecting altered brain metabolism.

44 Familial occurrence of an unknown entity with severe progressive peripheral neuropathy and congenital cataract: A case report N VEELKEN Department of Paediatrics, Hamburg, Germany

A lbyear-old girl from Bosnia presented with severe pulmonary problems caused by high grade scoliosis. After an uneventful pregnancy and delivery, bilateral cataracts were detected at the age of 3 months. She never learned to walk independently. At the age of 2!4


years her condition worsened coincident with a febrile illness. Since that time she has slowly lost motor abilities. At the time of admission she showed severe contra&rues of all extremities and a high grade scoliosis. Tendon reflexes were not elicitable. She was able to communicate by normal speech. Nerve conduction velocity of the peroneal nerve was not measurable, the electromyogram showed neurogenic abnormalities and para(myotonia. Normal values were found for creatine ldnase, aspartate transaminase, acid-base- status, very long chain fatty acid, arylsulfatase, lipid electrophoresis. Magnetic resonance imaging scan showed some pachygyria of the frontal to temporal lobe.

Despite respiratory support she died in January 1997.

A cousin of the father was born with cataract, was considered delayed in his motor development at the age of 9 months and died at 18 years, severely handicapped. A son of the sister of the index girl is now 2% years old, hypotonic, unable to walk alone. His motor nerve conduction velocity is slow, 35 m/s (peroneal nerve). He also suffered from bilateral congenital cataract. Gene analysis concerning myotonic dystrophy (DM-l-gene) was negative.

The question arises: is this genetic disease consistent with well known entities?

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