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Biomedical subjects

C D Ferrie

Publications and source records attributed to C D Ferrie.

At least 19 recordsLinked to original sources
PubMed2006

Recovery of consciousness after epileptic seizures in children.

OBJECTIVE: To investigate the duration of postictal impairment of consciousness and the factors that affect it. PATIENTS AND METHODS: 90 children aged 1-16 years (37 male, 53 female, median age 6 years), attending the accident and emergency department, and inpatients of Leeds General Infirmary, Leeds, UK, who had experienced seizures involving impairment of consciousness. Interventions-hourly modified paediatric coma scores were determined, until a coma score of 15 was obtained. Linear regression analysis was used to determine the factors influencing recovery time. RESULTS: 49 children were excluded owing to incomplete coma scoring, lost notes and refusal of consent. Median time for full recovery of consciousness was 38 min (0.63 h, range 0.05-17 h). Median recovery time was 18 min (0.3 h, range 0.05-9 h) from febrile seizures, which was significantly shorter than for seizures of other aetiologies (p<0.05), 1.35 h (range 0.07-13.13 h) from idiopathic seizures, 1.25 h (0.07-12.1 h) from remote symptomatic seizures and 4.57 h (0.25-17 h) from acute symptomatic seizures. Median recovery time after the use of benzodiazepines was 3.46 h (range 0.08-14.25 h), and was significantly longer (p<0.05) than for seizures not treated with benzodiazepines (median 0.47 h, range 0.05-17 h). Age, sex, seizure type and duration did not significantly affect recovery time. CONCLUSIONS: Most children experiencing febrile seizures recover within 30 min. An acute symptomatic aetiology should be considered if recovery takes >1 h.

Adolescent↗
PubMed2004

Juvenile Sandhoff disease--nine new cases and a review of the literature.

Juvenile Sandhoff disease (McKusick 268800) is a rare lysosomal storage disorder with only 12 cases recorded in the literature. This condition is also referred to as the subacute form of hexosaminidase deficiency. We describe 9 new cases of Pakistani origin and compare these with the other published cases. Ataxia and speech abnormalities were the commonest presentation. Constipation and urinary incontinence were frequent and may be due to autonomic neuropathy. Cherry-red spot was not noted in any of our cases. Increased lower limb reflexes were the commonest physical finding. Significant delay in diagnosis may be due to the nonspecific presentation of this condition. Diagnosis was on the basis of hexosaminidase deficiency. Residual enzyme activity did not correlate with the clinical picture. Emerging therapies make early diagnosis of this disorder important.

Child↗
PubMed2002

Two siblings with a new Aicardi-Goutières-like syndrome.

We present two siblings (male and female) with very similar characteristics comprising dysmorphic features, severe developmental delay, progressive microcephaly, tonic seizures, and hypothyroidism. The male also had micropenis and cryptorchidism. Both children developed pericardial effusions which caused the death of the female at age 16 months. The male's cardiac function was stable at last follow-up at the age of 15 months. Cerebral imaging showed widespread intracranial calcifications, delay in myelination, hypoplasia of the corpus callosum, and cerebral atrophy. CSF examination showed normal CSF white-cell count and was negative for interferon, although a cytotoxic antibody was thought to be present. Other causes of a neurodegenerative condition and congenital infection were excluded. The combination of these features has not been described before. We believe that these patients represent a new syndrome which has some of the features of Aicardi-Goutières syndrome but is distinct from it.

Abnormalities, Multiple↗
PubMed2001

Idiopathic generalised epilepsy with phantom absences and absence status in a child.

A syndrome of idiopathic generalised epilepsy with phantom absences of undetermined onset has been recently described. This syndrome clinically becomes apparent in adulthood with generalised tonic clonic seizures and frequently absence status epilepticus. We report an 11 year-old normal girl with frequent episodes of absence status and no other overt clinical manifestations. However, appropriate video-EEG recordings documented that she had frequent absence seizures that were so mild as to escape recognition by her and the parents. These consisted of mild impairment of cognition and eyelid fluttering during brief generalised discharges of spike/multiple spike and slow waves. No further seizures occurred and the EEG normalised after appropriate drug treatment. Thus, it appears that this syndrome of phantom absences and absence status may start much earlier, in late childhood. Appropriate video-EEG documentation is needed for the recognition of these patients that may be more common than it appears from the few published cases (with Video).

Brain↗
PubMed2000

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutières syndrome. Affected individuals had developed an early-onset progressive encephalopathy that was characterized by a normal head circumference at birth, basal ganglia calcification, negative viral studies, and abnormalities of cerebrospinal fluid comprising either raised white cell counts and/or raised levels of interferon-alpha. By means of genomewide linkage analysis, a maximum-heterogeneity LOD score of 5.28 was reached at marker D3S3563, with alpha=.48, where alpha is the proportion of families showing linkage. Our data suggest the existence of locus heterogeneity in Aicardi-Goutières syndrome and highlight potential difficulties in the differentiation of this condition from pseudo-TORCH (toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus types 1 and 2) syndrome.

Abnormalities, Multiple↗
PubMed2000

Topiramate for drug-resistant epilepsies.

Topiramate is a new anti-epileptic drug with proven efficacy against partial seizures in adults. A retrospective assessment of the use of topiramate in drug-resistant childhood epilepsy was undertaken. Thirty-four children (median age of 10 years; range 2-18 years) were treated for a median of 9 months (range 6-18 months). The starting dose was 0.25-2.0 mg/kg/day increasing to a maximum of 13 mg/kg/day. Generalized seizures occurred in 27 patients, partial seizures in 15 and infantile spasms in two. Epilepsies were localization-related in 15 patients and generalized in 18. One patient had severe myoclonic epilepsy in infancy. Two patients had Lennox-Gastaut syndrome, five (two currently and three previously) had West syndrome and one had epilepsy with myoclonic absences. Twenty patients had a substantial (> 50%) reduction in seizure frequency; two of whom became seizure-free. Two-patients had an increase in seizures. Efficacy was seen against simple and complex partial seizures, generalized tonic-clonic seizures (primarily generalized), atonic and tonic seizures, myoclonic seizures and infantile spasms. There was no response in the one patient with myoclonic absence seizures. Adverse effects were reported in nine patients; appetite suppression occurred in five patients, behaviour disturbances in three, somnolence in two and poor concentration in one patient. Topiramate is efficacious in a wide spectrum of childhood epilepsies and is well tolerated.

Adolescent↗
PubMed2000

Neurovascular compression of the trigeminal and glossopharyngeal nerve: three case reports.

Trigeminal neuralgia (TN) is a frequent cause of paroxysmal facial pain and headache in adults. Glossopharyngeal neuralgia (GPN) is less common, but can cause severe episodic pain in the ear and throat. Neurovascular compression of the appropriate cranial nerve as it leaves the brain stem is responsible for the symptoms in many patients, and neurosurgical decompression of the nerve is now a well accepted treatment in adults with both TN and GPN who fail to respond to drug therapy. Neither TN nor GPN are routinely considered in the differential diagnosis when assessing children with paroxysmal facial or head pain, as they are not reported to occur in childhood. Case reports of three children with documented neurovascular compression causing severe neuralgic pain and disability are presented. The fact that these conditions do occur in the paediatric population, albeit rarely, is highlighted, and appropriate investigation and management are discussed.

Adolescent↗
PubMed1999

Plasma amino acids in childhood epileptic encephalopathies.

Abnormalities in plasma amino acid levels have been noted in patients with various epilepsies, and sometimes also in their first degree relatives. We sought to study plasma amino acid levels in children with epileptic encephalopathies and their parents, relating findings to the pattern of cortical glucose metabolism as determined by 18fluorodeoxyglucose (FDG) positron emission tomography (PET). Twenty-eight children with cryptogenic epileptic encephalopathies were studied prospectively. Cortical glucose metabolism was evaluated by FDG PET with combined visual and semiquantitative analysis used to detect focal cortical defects. The plasma concentration of 21 amino acids in the children and their parents was measured by ion exchange chromatography and compared with control values using non-parametric statistical methods. Multivariate analysis was used to assess antiepileptic drug effects. Children were classified as: Lennox-Gastaut syndrome following infantile spasms (six patients); de-novo Lennox-Gastaut syndrome (eight); severe myoclonic epilepsy in infancy (eight) and myoclonic-astatic epilepsy (two). Four patients remained unclassified. Fourteen patients had focal/multifocal abnormalities on PET scans. The plasma level of aspartate was significantly lower in both the children with epileptic encephalopathies and in their parents (P < 0.005). The lowered aspartate levels could not be accounted for by the antiepileptic drug medication taken by the children. Further analysis showed the lowered aspartate levels to be confined to children and their parents who lacked focal PET abnormalities. These findings suggest a possible genetic abnormality in the aspartate neurotransmitter systems in the pathogenesis of seizures in the childhood epileptic encephalopathies.

Amino Acids↗