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Epilepsy
Published in Ibrahim Natalwala, Ammar Natalwala, E Glucksman, MCQs in Neurology and Neurosurgery for Medical Students, 2022
Ibrahim Natalwala, Ammar Natalwala, E Glucksman
With Lennox-Gastaut syndrome (LGS), which of the following statements are true and which are false? Onset is most often in pre-adolescent children.EEG of these patients usually shows diffuse slow spike and waves of ∼2 Hz frequency.The most common seizures experienced in this syndrome are partial.The mortality rate of patients with LGS is less than 2%.LGS can be preceded by a diagnosis of West syndrome.
Epilepsy and Sleep Disorders
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
West syndrome is also known as infantile spasms, salaam spasms and hypsarrhythmia. The onset is usually around the age of six months (range 3–9 months), and the child may have identifiable brain lesions (such as tuberous sclerosis, cortical dysplasias, malformations or anoxic-ischaemic insults) prior to the onset, but in about one-third of cases no aetiology can be found. In this syndrome a characteristic EEG pattern, termed hypsarrhythmia, is seen. This consists of a chaotic pattern of high amplitude, irregular, slow activity intermixed with multifocal spike and sharp wave discharges.
Gastroenterology and endocrinology
Published in Olamide Orekunrin, Helen Chaplin, Revision Questions for Paediatrics, 2019
Olamide Orekunrin, Helen Chaplin
From the list of options below, please select the most likely diagnosis for each of the following scenarios concerning possible causes of faltering growth or short stature. Each option may be used more than once. Renal failureTrisomy 18Cortisol excessKwashiorkorMonosomy 45 XMarasmusFamilial short statureEdwards’ syndromeGrowth failureKlinefelter’s syndromeConstitutional growth delayDeprivation dwarfismA 2-year-old girl who was born at term was subsequently diagnosed with infantile polycystic kidney disease. Her height has decreased from the 50th percentile at 6 months of age to below the 0.4th percentile currently.An infant who is receiving treatment for West syndrome shows decreased linear growth.An 11-year-old boy is being investigated for short stature. Both of his parents are of normal height. His bone age is delayed by more than two standard deviations from normal, and his growth rate remains in the lowest range of normal. All other investigations are normal.A 2-year-old refugee has recently arrived in the UK and presents with gross oedema, muscle wasting, fatigue and multiple skin lesions.A 4-year-old child is being investigated for short stature. She has missed several previous appointments and appears unkempt. Investigations are normal.
From next-generation sequencing to targeted treatment of non-acquired epilepsies
Published in Expert Review of Molecular Diagnostics, 2019
Rikke S. Møller, Trine B. Hammer, Guido Rubboli, Johannes R. Lemke, Katrine M. Johannesen
DEEs are a heterogeneous group of severe infancy and childhood onset disorders, characterized by often treatment-resistant seizures, developmental delay, and ID. According to the most recent classification [54], the overall term ‘developmental and/or epileptic encephalopathy’ can be used in the following combinations: 1) developmental encephalopathy (DE) consisting of developmental impairment, without frequent epileptic activity, leading to regression or developmental slowing; 2) epileptic encephalopathy (EE) where there is no pre-existing developmental delay, where the epileptic activity plays a crucial role in developmental derangement, and where the genetic alteration is not thought to cause developmental slowing in its own; and 3) developmental and epileptic encephalopathy where both DE and EE play a role. The clinical picture of DEEs is often complicated by comorbidities including intellectual, behavioral, and movement disorders. Ohtahara syndrome, EIMFS, West syndrome, DS, Lennox–Gastaut syndrome and ESES/Landau Kleffner syndrome are all examples of classical DEE syndromes. The precise incidence of DEEs remains unknown; however, they are presumed to account for a substantial number of epilepsies with onset in infancy. West syndrome, defined as the triad of epileptic spasms, hypsarrhytmia on the EEG and developmental stagnation or regression is among the most common DEEs with an estimated incidence of 1:2400 [55]. The incidence of DS is reported to be 1:22.000 [56].