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Movement disorders
Published in Ibrahim Natalwala, Ammar Natalwala, E Glucksman, MCQs in Neurology and Neurosurgery for Medical Students, 2022
Ibrahim Natalwala, Ammar Natalwala, E Glucksman
viii – This is also known as infantile spasms. It is a rare form of generalised epilepsy in infants, affecting males more than females. It usually presents between 3 and 12 months of age, peaking at 5 months of age. These infants will stop psychomotor development at the age of the seizure onset, making the prognosis very poor and the disease very serious. A characteristic EEG finding is that of hypsarrhythmia (high amplitude and irregular waves and spikes in a background of chaotic and disorganised activity). Seizures are bilaterally symmetric flexion/extension movements of the arms, legs and trunk (hence these seizures are sometimes known as ‘salaam’ spasms or ‘jack knife’ convulsions). Individual spasms last only a few seconds, although they can occur in clusters lasting minutes.5
Neurology and neurosurgery
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
The usual age of onset of infantile spasms is 3-6 months, but they may begin as early as the neonatal period or as late as 2 years. They most commonly occur in association with neonatal asphyxia, birth trauma or previous meningitis. They are also seen in patients with tuberous sclerosis and may sometimes occur in previously normal children. Whooping cough vaccine has also been implicated, but the incidence is less than 1:150000. Although they may remit spontaneously, other seizure types develop later in life in about 50% of patients and mental retardation has been reported in 80-90% of cases on long-term follow-up. The EEG changes when present are diagnostic (hypsarrhythmia).
Cobalamin C, D, F, G diseases; methylmalonic aciduria and variable homocystinuria
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
The clinical picture of the newly discovered Cbl X disease [13] resembles that of a severe Cbl C disease. In three patients, manifestations such as microcephaly had a prenatal onset. In the others, manifestations began at four months or less. Infantile spasms and hypsarrhythmia were seen in three patients. All the rest had seizures. Severe delay or absence of development was the rule. One had a gyral cortical malformation, undescended testis and megacolon. One had hypospadias.
Sleep EEG of Microcephaly in Zika Outbreak
Published in The Neurodiagnostic Journal, 2018
Paulo Afonso Medeiros Kanda, Aline de Almeida Xavier Aguiar, Jose Lucivan Miranda, Alexandre Loverde Falcao, Claudia Suenia Andrade, Luigi Neves dos Santos Reis, Ellen White R. Bacelar Almeida, Yanes Brum Bello, Arthur Monfredinho, Rafael Guimaraes Kanda
The most frequent background EEG abnormality was diffuse slowing (10 cases), followed by classic (3 cases) and modified (5 cases) of hypsarrhythmia (Figure 1). Multifocal epileptiform activity occurred in 13 patients with spikes and sharp waves, found mainly in frontal, temporal, and central regions (Figure 2). A distinct EEG pattern was seen in patients with ZIKV (5 cases), toxo (2 cases), and undetermined diagnosis (1 case). It was characterized by runs of frontocentrotemporal 4.5–13 Hz activity (7 cases) or diffuse and bilateral runs of 17–24 Hz (1 case) (Figure 3), sometimes with spiky morphology (Figure 4). This pattern appeared in cases with and without hypsarrhythmia. The EEG in the patient diagnosed with chikungunya was characterized by an inversion of frequency-amplitude gradient, in other words, background slowing with higher amplitudes in anterior electrodes (Figure 5). In the sleep EEG of normal children, the frequency-amplitude gradient is characterized by a progressive voltage reduction from occipital to frontal areas, associated with a frequency decrease in the anteroposterior direction (Aucélio and Niedermeyer 2007).
Treatment of infantile spasms: why do we know so little?
Published in Expert Review of Neurotherapeutics, 2020
Nicola Specchio, Nicola Pietrafusa, Alessandro Ferretti, Luca De Palma, Marta Elena Santarone, Chiara Pepi, Marina Trivisano, Federico Vigevano, Paolo Curatolo
Many studies have reported on the use of nonstandard therapies for IS in infants for whom standard medications have been ineffective. The ketogenic diet (KD) has been shown in one prospective study [110] and three retrospective studies [111–113] to be very effective for intractable IS, often after ACTH and vigabatrin have been unsuccessful. In a recent systematic review including 13 observational studies (341 patients), a median rate of 64.7% of patients experienced a spasm reduction >50% (IQR: 38.94%) – the median spasm-free rate was 34.61% (IQR: 37.94%). In this review, IS of unknown etiology seemed to increase the probability of achieving freedom from seizures (RR: 1.72, 95%CI: 1.18–2.53) [114]. Though these results might be considered as meaningful when dealing with epilepsies with focal or generalized seizures, reduction of more than 50% of seizures should still be considered as a failure for IS. The response to treatment in IS should consider complete cessation of clinical spasms and resolution of hypsarrhythmia at EEG. Moreover, in a recent cohort of 101 patients with IS, KD showed similar effectiveness when compared with high-dose ACTH: specifically, patients previously treated with vigabatrin presented with a lower relapse rate if treated with KD [115]. These results should be further confirmed with consideration to the etiologies of the patients enrolled. The best candidates for KD are patients with mutation of the gene SLC2A1 (having Glut-1 deficiency) and patients with Pyruvate Dehydrogenase Deficiency (PDH); however, cases with KCNT1 genetic variants have also been reported. Nevertheless, all cases with refractory IS may be good candidates for KD as second/third-line treatment.
Epilepsy: expert opinion on emerging drugs in phase 2/3 clinical trials
Published in Expert Opinion on Emerging Drugs, 2022
Amanda W Pong, Jonathan Ross, Ivana Tyrlikova, Alexander J Giermek, Maya P Kohli, Yousef A Khan, Roger D Salgado, Pavel Klein
An OL phase 2 trial in 10 ACTH- and Vigabatrin- refractory IS infants aged 3–36 months will evaluate the efficacy, safety, and tolerability of fenfluramine titrated to 0.8 mg/kg/day (NCT04280467). Primary outcomes are resolution of spasms and hypsarrhythmia. Secondary outcomes are adverse events including CVT and PHT.