Search Results - "Brett, E M"

The Significance and Management of Incidental [18F]Fluorodeoxyglucose-Positron-Emission Tomography Uptake in the Thyroid Gland in Patients with Cancer by Eloy, J.A, Brett, E.M, Fatterpekar, G.M, Kostakoglu, L, Som, P.M, Desai, S.C, Genden, E.M

“…Incidental positron-emission tomography (PET) uptake in the thyroid bed represents a diagnostic dilemma. Currently, there is no consensus regarding the…”
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Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA by McShane, M A, Hammans, S R, Sweeney, M, Holt, I J, Beattie, T J, Brett, E M, Harding, A E

“…A patient is described who has features of Pearson syndrome and who presented in the neonatal period with a hypoplastic anemia. He later developed hepatic,…”
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Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease by McShane, M A, Boyd, S, Harding, B, Brett, E M, Wilson, J

“…Fazio-Londe disease is a label sometimes applied to a degenerative disease of the motor neurons characterized by progressive bulbar paralysis in children. It…”
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Hypomelanosis of Ito: spectrum of the disease by Glover, M T, Brett, E M, Atherton, D J

“…Nineteen children with hypomelanosis of Ito are described. Fourteen were developmentally delayed and nine had a history of seizures. Hemihypertrophy was…”
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Peripheral neuropathy as the presenting feature of tyrosinaemia type I and effectively treated with an inhibitor of 4-hydroxyphenylpyruvate dioxygenase by Gibbs, T C, Payan, J, Brett, E M, Lindstedt, S, Holme, E, Clayton, P T

“…A 21 month old girl presented with a short history of frequent falls and a right sided foot drop. She went on to suffer recurrent episodes of distal weakness…”
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Distal spinal muscular atrophy with vocal cord paralysis by Pridmore, C, Baraitser, M, Brett, E M, Harding, A E

“…We describe a family with distal spinal muscular atrophy and vocal cord paralysis, similar to the condition reported by Young and Harper in 1980. Both…”
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Severe microcephaly associated with congenital varicella infection by Scheffer, I E, Baraitser, M, Brett, E M

“…A case of second-trimester congenital varicella infection, in association with isolated microcephaly and severe brain damage, is reported, and cases of…”
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The 'happy puppet' syndrome of Angelman: review of the clinical features by Robb, S A, Pohl, K R, Baraitser, M, Wilson, J, Brett, E M

“…Thirty six children with typical features of Angelman's syndrome, including global developmental delay, ataxia, episodes of paroxysmal laughter, seizures, and…”
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A form of juvenile Batten disease with granular osmiophilic deposits by Lake, B D, Brett, E M, Boyd, S G

“…The clinical, neurophysiological and pathological features of a patient who presented with the clinical features of juvenile Batten disease, yet who had…”
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Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration by Hurst, J A, Markiewicz, M, Kumar, D, Brett, E M

“…We describe three children with Hirschsprung's disease and microcephaly, two of whom also have an iris coloboma. Two of the children, one with a coloboma and…”
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Effects of sodium valproate in 100 children with special reference to weight by Egger, J, Brett, E M

“…Excessive weight gain occurred in a patient who was taking sodium valproate and phenytoin. The sodium valproate was therefore withdrawn but the rapid weight…”
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Angelman's syndrome by Scheffer, I, Brett, E M, Wilson, J, Baraitser, M

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Two siblings with mental retardation and progressive spasticity by Nicolaides, P, Baraitser, M, Brett, E M

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Eye movement tics by Shawkat, F, Harris, C M, Jacobs, M, Taylor, D, Brett, E M

“…An 8-year-old girl presented with opsoclonus-like eye movement and an 18 month history of intermittent facial tics. Investigations were all normal…”
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"It isn't epilepsy is it, doctor?" by Brett, E M

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Moebius' syndrome with unilateral cerebellar hypoplasia by Harbord, M G, Finn, J P, Hall-Craggs, M A, Brett, E M, Baraitser, M

“…A case is reported of a child with Moebius' syndrome who also has unilateral cerebellar hypoplasia. We suggest that this combination of abnormalities could…”
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Megalencephaly with dysmyelination, spasticity, ataxia, seizures and distinctive neurophysiological findings in two siblings by Harbord, M G, Harden, A, Harding, B, Brett, E M, Baraitser, M

“…A progressive neurological condition characterised by megalencephaly, spasticity, ataxia and seizures in two siblings of consanguineous parents is described…”
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Pelizaeus-Merzbacher disease: classical or connatal? by Scheffer, I E, Baraitser, M, Wilson, J, Harding, B, Kendall, B, Brett, E M

“…The clinical features and investigation results of 7 patients with Pelizaeus-Merzbacher disease (PMD) are described; one patient had a brain biopsy and two…”
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Central nervous system malformations in Mohr's syndrome by Reardon, W, Harbord, M G, Hall-Craggs, M A, Kendall, B, Brett, E M, Baraitser, M

“…A boy with severe developmental delay, bilateral, symmetrical hallucal duplication, and accessory alveolar frenula was found to have radiological evidence of a…”
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The Angelman (Happy Puppet) syndrome: is it autosomal recessive? by Baraitser, M, Patton, M, Lam, S T, Brett, E M, Wilson, J

“…We report seven cases of Angelman's syndrome from three families. Recurrence risks are not small, as previously suggested…”
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