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Biomedical subjects

R O Robinson

Publications and source records attributed to R O Robinson.

At least 19 recordsLinked to original sources
PubMed1997

Salla disease--rare or underdiagnosed?

Salla disease is described in two English children. Eighty-seven of the 89 cases so far reported come from Finland. It may be genuinely rare outside Finland or possibly underdiagnosed. Although a lysosomal disorder, it lacks many of their more characteristic features. Deterioration, for example, in the paediatric age range is rare. The clinical features are, however, consistent and specific. Definitive diagnosis is achieved by demonstrating increased amounts of free sialic acid in cultured skin fibroblasts. If the colorimetric method in widespread use is employed for this, a false negative result may be obtained. High-pressure liquid chromatography is sufficiently sensitive. It is possible therefore that Salla disease is under-reported, both from lack of clinical awareness and from lack of appropriate laboratory confirmation.

Child↗
PubMed1997

Early-onset benign occipital seizure susceptibility syndrome.

PURPOSE: Childhood epilepsy with occipital paroxysms (CEOP) is characterised by ictal visual hallucinations and occipital epileptiform activity on interictal EEG. A variant has been described with nonvisual symptoms including tonic head and eye deviation, vomiting, and episodes of partial status epilepticus. We fully documented the electroclinical features of such patients to determine whether classification separate from CEOP is justified. METHODS: This was a multicentre study with participating investigators submitting details of patients with idiopathic occipital seizures characterised by ictal head or eye deviation and vomiting. RESULTS: One hundred thirteen patients were recruited. Seizures began in early childhood (mean, 4.6 years) and occurred infrequently (mean total seizures, 3); 30% of patients had only a single seizure. Two thirds of seizures were nocturnal. Ictal eye deviation occurred in 79%, vomiting in 70%, and head deviation in 35%. Seizures were predominantly complex partial in type. Partial status epilepticus occurred in 44% of patients. Seventy-four percent of patients had occipital interictal EEG epileptiform activity, predominantly right sided, with fixation-off sensitivity. Extraoccipital EEG abnormalities occurred in 35% of patients. Prognosis was excellent: the mean duration of active seizures was 1 year. CONCLUSIONS: Although the two groups shared identical EEG features, the distinct clinical symptoms probably justify separate classification. Early-onset benign occipital seizure syndrome (EBOSS) is suggested as an appropriate name for the variant group.

Adolescent↗
PubMed1997

Cortical and subcortical glucose metabolism in childhood epileptic encephalopathies.

OBJECTIVES: Nearly one third of children with cryptogenic epileptic encephalopathies have been reported to have focal cortical defects on 18fluorodeoxyglucose (FDG) PET. As diffuse cortical dysfunction and involvement of subcortical structures, particularly the thalami, is postulated to underlie the propensity to seizures in these conditions, the aim was to determine the frequency of bilateral and diffuse cortical metabolic defects and of subcortical metabolic abnormalities in the same patients. METHODS: The interictal uptake of FDG was studied in 32 children with epileptic encephalopathies. Using a semiquantitative technique, the ratio of uptake in cortical regions and subcortical structures to that in the cerebellum was compared with that of age matched historical controls. Uptake more than 2 SD above ("hypermetabolic") or below ("hypometabolic") that of age matched controls was considered abnormal. RESULTS: Diffusely abnormal cortical up-take (nearly always hypometabolic) occurred in almost two thirds of patients; in all but two of the remaining patients at least one cortical region showed significantly decreased uptake bilaterally. When analysed as age cohorts, the mean cortical:cerebellar FDG uptake was significantly lower than that of controls in all cortical regions (P<0.005). Ninety per cent of patients had evidence of relative thalamic hypometabolism and in each age group there was a significant reduction in relative thalamic FDG uptake compared with that of controls (P<0.005). In nine out of 11 patients with unilateral cortical hypometabolic defects thalamic FDG up-take was lower ipsilateral to the cortical abnormality. CONCLUSIONS: Diffuse cortical dysfunction is common in the epileptic encephalopathies and may reflect the underlying cause of the condition or arise as a consequence of uncontrolled seizures. Altered thalamic glucose metabolism is further evidence of subcortical involvement in these conditions.

Cerebellum↗
PubMed1996

Psychotic and severe behavioural reactions with vigabatrin: a review.

Behavioural disturbances and psychotic reactions are commoner in patients with epilepsy than in the general population and may be precipitated by the majority of antiepileptic drugs, including the newer ones. These reactions may be more frequent in patients with complex partial seizures, reflecting underlying temporal lobe pathology. A review of the literature on vigabatrin found an incidence of severe abnormal behaviour in controlled trials in adults of 3.4%. In children open studies gave an incidence of around 6%. This may be related to dosage and speed of introduction. Such reactions may be related to changes in seizure control, either unaccustomed good control (force normalisation) or breakdown in control, implying non-specific causative mechanisms. Alternatively, any relationship to control may be fortuitous and specific, unknown pharmacological mechanisms may be involved. Appropriate risk reduction measures include slow introduction, limiting the dose to that required for seizure control, slow withdrawal and increased vigilance in those on polytherapy or with psychiatric histories. Such advice is pertinent to all antiepileptic medications. Additionally, vigabatrin is probably contraindicated in idiopathic generalised epilepsies. Behavioural reactions are uncommon with vigabatrin, and have not been shown to be greater with it than with other antiepileptic agents. Therefore, it maybe inappropriate to withhold the drug from those who may benefit from it.

Adult↗
PubMed1996

Focal abnormalities detected by 18FDG PET in epileptic encephalopathies.

A prospective study of 32 children with epileptic encephalopathies 12 years or younger revealed a high incidence of focal cortical metabolic defects on 18-fluorodeoxyglucose positron emission tomography (PET) not suspected from clinical, EEG, or magnetic resonance imaging findings. PET scans were normal in all five children with typical de novo Lennox-Gastaut syndrome but showed cortical metabolic abnormalities in three out of four with atypical de novo Lennox-Gastaut syndrome, five out of six with Lennox-Gastaut syndrome following infantile spasms, six out of eight with severe myoclonic epilepsy in infancy, one out of two with epilepsy with myoclonic-astatic seizures, and four out of six with an unclassified epileptic encephalopathy. This suggests that some children with epileptic encephalopathies previously thought to have primary generalised seizures or seizures due to multifocal pathology may have unifocal cortical origin for their seizures. Such an origin may be amenable to surgery.

Child↗
PubMed1996

Difficulties in diagnosing intrinsic spinal cord tumours.

Thirteen children with intrinsic spinal cord tumours were seen between 1984 and 1995. In only one was this the presumptive diagnosis at referral, despite a high incidence of characteristic features. Eight had presented to their local paediatrician, four to local orthopaedic teams, and one to a general surgeon. Eleven had back pain. Eleven had either spinal curvature or change in gait. The interval between onset of symptoms and diagnosis ranged from one week to six years, with a mean of 17.5 months. In nine children symptoms had been present for four or more months. In nine, unrewarding investigations had been carried out. This paper highlights typical presenting features of these tumours and how earlier diagnosis can be achieved.

Back Pain↗
PubMed1995

Lamotrigine as an add-on drug in typical absence seizures.

INTRODUCTION: Lamotrigine is licensed in many countries for use in patients with partial seizures. Evidence suggests that it may also be effective in generalised epilepsies. MATERIAL & METHODS: We analysed retrospectively our patients with idiopathic generalised epilepsy with refractory absences. RESULTS: Fifteen patients with idiopathic generalised epilepsies were identified who had been treated with lamotrigine for 3 months or more. All patients were also treated with sodium valproate. Fourteen patients had active absences. Nine (64%) had a total or virtual cessation of absences and in a further patient they became milder and less frequent. One patient reported an increase in seizures. The effective dose of lamotrigine was 1.6-3.0 mg/kg/day in children and 25-50 mg/day in adults. Patients who responded did so after the first or second dose. Lamotrigine was well tolerated. CONCLUSION: Low-dose lamotrigine added to sodium valproate appears to be effective in typical absence seizures. A therapeutic interaction of the two drugs seems likely.

Adolescent↗
PubMed1993

Mycoplasma pneumoniae infection and neurological disease.

The cases are reported of 13 children seen over a 22 month period who presented with a variety of acute neurological illnesses associated with Mycoplasma pneumoniae infection. Although presentation with a decreased level of consciousness or seizures was common, psychosis, hemiparesis, cranial nerve palsies, and Guillain-Barré syndrome were also seen. In contrast with published reports, only one child had an associated chest infection. Although some children have been left with residual disability, most have made a complete recovery. In this recent experience, M pneumoniae is a not rare cause of neurological illness in childhood and may present in unusual ways.

Adolescent↗
PubMed1991

Familial schizencephaly.

Familial cases of schizencephaly hitherto have been associated with readily diagnosable metabolic conditions or malformation syndromes. Where such associations are absent, it is usually considered to be a sporadic event without a genetic contribution. Described here are a brother and sister with identical bilateral symmetrical schizencephaly. Genetic counselling must therefore allow for the possibility of an autosomal recessive form of this condition.

Adolescent↗
PubMed1990

Arthrogryposis multiplex congenita; feeding, language and other health problems.

A survey of the health problems of 87 individuals with arthrogryposis multiplex congenita revealed a high proportion (51) with major feeding difficulties in infancy. This was generally related to structural abnormalities of the jaw and tongue. Children thus involved were more prone to recurrent chest infections, constipation, and poor growth and weight gain. In addition, there was a strong association between initial feeding difficulties and subsequent language problems. Early identification of a sub-group of children with arthrogryposis multiplex congenita is therefore possible who may require continuing therapy from a number of disciplines.

Arthrogryposis↗