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Biomedical subjects

W P Whitehouse

Publications and source records attributed to W P Whitehouse.

At least 19 recordsLinked to original sources
PubMed2006

Pyruvate dehydrogenase E3 binding protein (protein X) deficiency.

Pyruvate dehydrogenase (PDH) deficiency is a major cause of neurological dysfunction and lactic acidosis in infancy and early childhood. The great majority of cases (>80%) result from mutations in the X-linked gene for the E1alpha subunit of the complex (PDHA1). Mutations in the genes for the other subunits have all been described, but only dihydrolipoamide dehydrogenase (E3) and E3 binding protein (E3BP) defects contribute significantly to the total number of patients with PDH deficiency. Although previously considered rare, with only 13 reported cases, we have found that mutations in PDX1, the gene for the E3 binding protein, are in fact relatively common. Clinical, biochemical, and genetic features of six new patients (four males, two females; age range 15mo-6y) with mutations in this gene are compared with previously reported cases. All patients with E3BP deficiency identified to date have mutations which completely prevent synthesis of the protein product. However, they are generally less severely affected than patients with PDHA1 mutations, although there is considerable overlap in clinical and neuroradiological features.

Child↗
PubMed2005

Comparison of a dedicated children's seizure clinic to mixed general paediatric clinics.

BACKGROUND: In the light of recent recommendations regarding the current management of children with possible epilepsy in the UK, different models of care are compared using an existing validated audit tool. METHODS: The initial clinical assessment process, investigation, management and communication regarding children referred with suspected epilepsy to general paediatric clinics or a paediatric seizure clinic was compared using the British Paediatric Neurology Association (BPNA) audit tool. Results Ninety-three children were included in the comparison. The history and description of the episodes was better documented in the Seizure Clinic (SC). Children's early development (79% vs. 50%) and school performance (86% vs. 42%) were better documented in the SC. Documentation of possible side effects relating to newly prescribed anti-epileptic drugs was poor in both groups (33% vs. 15%). CONCLUSIONS: Differences between models of epilepsy care can be detected using audit tools although there are some methodological limitations of this particular study. Future similar studies as well as informing local practice can add to the debate on the appropriate way forward in improving the care for children with epilepsy.

Anticonvulsants↗
PubMed2005

Occult carotid pseudoaneurysm following streptococcal throat infection.

Pseudoaneurysm of the internal carotid artery (PAICA) is a rare complication of neck space infection. An 8-year-old girl presented with odynophagia (painful swallowing), trismus and left peritonsillar swelling. Abscess was suspected, but aspiration was dry. The PAICA was diagnosed on computed tomography. The aneurysm and involved left internal carotid artery were occluded endovascularly. She has made an uneventful recovery.

Aneurysm, False↗
PubMed2003

Brachial neuritis following infection with Epstein-Barr virus.

A case of brachial neuritis after infection with Epstein-Barr virus in a 15-year-old girl is presented. A review of the literature contrasts the presenting features in children and adults. Diagnostic tests, treatment and prognosis are discussed.

Adolescent↗
PubMed2003

Acute bilateral thalamic necrosis in a child with Mycoplasma pneumoniae.

A previously neurodevelopmentally intact 5-year-old male was admitted to hospital with a right lower lobe pneumonia with pleural effusion, subsequently confirmed to be a Mycoplasma pneumoniae infection. On the seventh day of the illness he had a prolonged generalized tonic or tonic-clonic convulsion, requiring intubation and ventilation. He was slow to regain consciousness (Child's Glasgow Coma Score 7-10 over 6 days) and brain imaging with CT and then MRI demonstrated bilateral thalamic lesions with oedema and central haemorrhage suggestive of acute bilateral thalamic necrosis, without striatal or white-matter involvement. He was treated with a 2-week course of erythromycin, and as an autoimmune process was considered possible, 5 days of intravenous methylprednisolone (20 mg/kg/day) followed by a 4-week oral prednisolone taper. He made a slow recovery over the next few weeks with almost complete neurological recovery by 2 months but with significant dysarthria, drooling, and a mild left hemiparesis. At 9 months, significant dystonia continued to affect his speech and, together with tremor, his upper-limb fine motor function bilaterally. His gait, personality, and higher cognitive functions appeared to have recovered fully. Although acute striatal necrosis, acute disseminated encephalomyelitis, and encephalitis have been reported with Mycoplasma pneumoniae and a similar picture of acute bilateral thalamic necrosis with influenza-A ('acute necrotizing encephalopathy'), this is the first reported case of Mycoplasma pneumoniae-associated isolated acute bilateral thalamic necrosis.

Acute Disease↗
PubMed2003

Acute disseminated encephalomyelitis: a review of 18 cases in childhood.

OBJECTIVE: Acute disseminated encephalomyelitis (ADEM) is a treatable inflammatory demyelinating disorder seen more commonly in children than in adults. It typically presents to general paediatricians, often, like encephalitis, with non-specific cerebrospinal fluid findings. The brain computerized tomography scan is usually normal, so is falsely reassuring and delays the diagnosis, which might result in considerable morbidity. The present study was initiated to report on the various modes of presentation and raise the awareness of the diagnosis of ADEM among general paediatricians. METHODS: A retrospective review of the case notes of 18 children with a diagnosis of ADEM established in a tertiary referral centre from 1995 to 2000 was undertaken with particular reference to clinical features, investigations and treatment. RESULTS: The most common presenting features were ataxia (10 cases), followed by headache (eight cases) and weakness (five cases). Magnetic resonance imaging (MRI) of the brain was needed to confirm the diagnosis in all 18 children. Treatment usually included a course of intravenous methylprednisolone followed by a tapering dose of oral prednisolone over several weeks. Although the outcome for most of the children was generally good, two relapsed after cessation of steroids and five children had ongoing disabilities. CONCLUSIONS: The investigation of choice for establishing the diagnosis of ADEM was MRI of the brain. Other investigations were seldom helpful in reaching the diagnosis. Early diagnosis and prompt treatment of ADEM will probably reduce morbidity.

Acute Disease↗
PubMed2003

Acute disseminated encephalomyelitis: recognition in the hands of general paediatricians.

Acute disseminated encephalomyelitis will often present to the general paediatrician as an acute polysymptomatic encephalopathy, and initially the diagnosis may not be clear. A brain MRI scan is essential in establishing the diagnosis and so enabling appropriate advice and treatment to be given. Multicentre clinical audit of outcome and controlled therapeutic trials are needed to secure an evidence base for current practice.

Anti-Bacterial Agents↗
PubMed2002

Comparative audit of intravenous lorazepam and diazepam in the emergency treatment of convulsive status epilepticus in children.

There is little evidence on which to judge the optimal treatment for convulsive status epilepticus (CSE) in children. This study compares the effect of intravenous (iv) lorazepam with iv diazepam as the first line of treatment of CSE. We studied all children with prolonged seizures arriving in the Accident and Emergency (A&E) Department in two separate periods. In the first 6-month period iv diazepam was used as standard treatment, in the second 1-year period iv lorazepam was used. We measured latency to stopping of seizure and any adverse events. A successful treatment was defined as one in which the seizure clinically ceased within 15 minutes after siting the iv cannula, requiring no further treatment.Intravenous diazepam (0.32 mg kg (-1)) was used in 17 of 26 patients, whilst iv lorazepam (0.13 mg kg (-1)) was used in 31 of 59. There were no differences between the two groups regarding age, sex and seizure type.The seizure was successfully controlled 15 minutes after siting the iv cannula in 11 (65%) patients treated with diazepam (median time of 3 minutes) and in 20 (65%) patients treated with lorazepam (median time of 5 minutes). These preliminary results suggest that iv lorazepam may be as effective as iv diazepam.

Anticonvulsants↗
PubMed2001

Idiopathic central pontine myelinolysis in childhood.

Central pontine myelinolysis (CPM) is rare in childhood with only a few cases reported in world literature. We report a 7-year-old male who presented with acute ataxia, swallowing difficulties, dysarthria, and radiological features consistent with the disorder. He improved remarkably with oral prednisolone therapy and was almost back to normal by 2 weeks. A review of the literature is also included.

Anti-Inflammatory Agents↗
PubMed2001

Melatonin is useful for recording sleep EEGs: a prospective audit of outcome.

The study aimed to determine if melatonin could reliably induce sleep in children undergoing sleep EEG without affecting the usefulness of the EEG itself. One hundred and sixty three children (112 males, 51 females; mean age 8 years, range 1 to 16 years) referred for sleep EEG were studied. The children were given 2 to 10 mg of melatonin, depending on age, just before EEG recording. Measurements included sleep-onset latency, adverse effects, and acceptability of the EEG. Usefulness and acceptability of melatonin-induced sleep EEG were compared with the standard technique of sleep EEG following sleep deprivation in 30 children (matched for sex and age). Sleep was obtained in 79% of the 163 children who received melatonin after an average of 33 minutes. Yield of epileptiform abnormalities demonstrated in the melatonin sleep EEG was similar to that reported in the literature for sleep-deprived EEGs. There was no significant adverse effect. When compared, a melatonin-induced sleep EEG was as useful as a sleep-deprived EEG. However, the children's behaviour on the day of the melatonin-induced sleep EEG recording was more acceptable to parents.

Antioxidants↗
PubMed2001

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

PURPOSE: Severe myoclonic epilepsy of infancy (SMEI) is an intractable epilepsy of early childhood of unknown etiology. It is often associated with a family history of seizure disorders, but epilepsy phenotypes have not been well described. We sought to characterize the seizure phenotypes of relatives to better understand to the genetic basis of SMEI. METHODS: Probands with SMEI were identified, and systematic family studies were performed. Epilepsy syndromes were characterized in affected family members. RESULTS: Twelve probands with SMEI were identified. Eleven of the 12 probands with SMEI had a family history of seizures, and the twelfth was the result of a consanguineous marriage. We found that 16.7% of full siblings and 8.3% of parents had definite seizures. A total of 39 affected family members was identified. The most common phenotype was febrile seizures in 14, febrile seizures plus in seven, partial epilepsy in two, and there were single individuals with SMEI, myoclonic-astatic epilepsy, Lennox-Gastaut syndrome, and 13 cases with unclassified or unconfirmed seizures. CONCLUSIONS: The family history of seizures in SMEI is in keeping with the spectrum of seizure phenotypes seen in generalized epilepsy with febrile seizures plus (GEFS+). Our findings suggest that SMEI is the most severe phenotype in the GEFS+ spectrum.

Adolescent↗
PubMed2001

Siblings with development delay, mild spasticity and subcortical cysts: a further leukoencephalopathy?

We present a family with mild neurological symptoms and intra-cerebral subcortical cysts on magnetic resonance imaging (MRI). Common clinical features are microcephaly, learning difficulties, spasticity, dyspraxia and restricted movements of the neck and shoulder. The family has features in common with vacuolating leukoencephalopathy of van de Knaap and Olivier and may represent a new variant.

Adolescent↗
PubMed2000

An established case of dentatorubral pallidoluysian atrophy (DRPLA) with unusual features on muscle biopsy.

Dentatorubral pallidoluysian atrophy (DRPLA) belongs to the group of autosomal dominant ataxias. Central nervous system pathology and inheritance are both well characterized, although the illness is rare. The presentation of a European child affected by this illness is described. He presented at 9 years of age with intractable progressive myoclonus epilepsy against a background of learning difficulties and developed progressive hypertonicity and dementia before his death at 15 years of age. Significant histological changes in a muscle biopsy were found. There was an absence of type IIB fibres and a predominance of type I fibres. Mean fibre diameter of all the fibre types was markedly reduced. All type I fibres showed an increase in lipid droplets. No previous descriptions exist of muscle histology in DRPLA. Although at least five adult family members have symptoms consistent with a diagnosis of DRPLA, their condition had not been recognized. We therefore describe the clinical picture and histological findings.

Adolescent↗
PubMed1999

Status epilepticus on the paediatric intensive care unit-the role of EEG monitoring.

A pilot study was undertaken of the feasibility of continuous EEG monitoring of patients admitted to a Paediatric Intensive Care Unit (PICU) for management of status epilepticus or its immediate sequelae. Eight children were studied and seizure activity was recorded in four patients. Additional information influencing management was obtained: the bedside nurse considered decerebrate posturing in one patient to be a seizure: there were no epileptiform EEG changes. Another patient was considered to have seizures (clonic movements of both upper limbs) following cardiac arrest; the EEG showed electrocerebral silence, and thiopentone treatment was discontinued. In another patient, continuing epileptiform activity on EEG gave intensivists the confidence to use higher than usual doses of thiopentone. The problems encountered were delays in monitoring, once for a CT scan and once because of two admissions within hours of each other. We conclude that EEG monitoring on a PICU is feasible and provides clinically useful information.

Child↗
PubMed1998

A case of Ohtahara syndrome with cytochrome oxidase deficiency.

Ohtahara syndrome is a rare cause of epileptic seizures during the neonatal period. This is believed to be the first report of this syndrome with a specific metabolic defect. Defects in respiratory chain function may be more common than previously assumed in patients with this epilepsy syndrome.

Cytochrome-c Oxidase Deficiency↗