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Neurology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Fenella Kirkham, Adnan Manzur, Stephanie Robb
This is due to mitochondrial disorders (pyruvate carboxylase deficiency, pyruvate dehydrogenase deficiency, respiratory chain enzyme deficiencies). Children show progressive movement disorders, usually extrapyramidal, ptosis and ophthalmoplegia and seizures.
The Cerebellar Ataxias and Hereditary Spastic Paraplegias
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
The intermittent metabolic ataxias of childhood are rare. Affected children have a fluctuating cerebellar ataxia which tends to appear for a few weeks and then remit. Seizures, episodes of coma and cognitive impairment are often associated. Attacks may arise spontaneously or in association with infections or dietary changes. Patients with X-linked ornithine transcarbamylase deficiency may be only mildly affected in between attacks of severe encephalopathy and cerebral oedema. A photosensitive rash is characteristic of Hartnup disease. The most likely metabolic derangements are: Hyperammonaemias (several autosomal recessive forms and X-linked ornithine transcarbamylase deficiency)Aminoacidurias (Hartnup disease, maple syrup urine disease and isovaleric acidaemia)Derangements of pyruvate or lactate metabolism (various autosomal recessive or X-linked inborn errors including pyruvate dehydrogenase deficiency and pyruvate carboxylase deficiency).
Coincidental occurance of episodic ataxia and multiple sclerosis: a case report and review of the literature
Published in International Journal of Neuroscience, 2022
Melike Batum, Ayşın Kısabay Ak, Güldeniz Çetin, Hamide Betül Gerik Çelebi, Sırrı Çam, Hatice Mavioğlu
Episodic ataxia is a clinical condition characterized by episodes of balance and impairment that last minutes to hours. It can be inherited or occur sporadically. It can also be seen sporadically in epilepsy, basilar migraine, multiple sclerosis, vertebrobasilar ischaemia, and labyrinth diseases. Apart from these. Symptoms of paroxysmal dysarthria-ataxia (secondary PDA) may also be present. Attacks of paroxysmal ataxia of primary type have been associated with genetic etiologies (EA 1-7) [1]. Hereditary episodic ataxias, spinocerebellar ataxia type 6, some mitochondrial disorders (such as pyruvate decarboxylase deficiency and pyruvate dehydrogenase deficiency), aminoaciduria (such as Hartnup disease, ketoaciduria, and isovaleric acidaemia), and hyperammonaemia due to urea cycle enzyme deficiency can also lead to episodic ataxia [1].
Current challenges in the pathophysiology, diagnosis, and treatment of paroxysmal movement disorders
Published in Expert Review of Neurotherapeutics, 2021
Cécile Delorme, Camille Giron, David Bendetowicz, Aurélie Méneret, Louise-Laure Mariani, Emmanuel Roze
Paroxysmal dyskinesia have been associated with focal lesions of the striatum in stroke patients[5]. Genetic early-onset Parkinson’s disease (especially Parkin mutations) and dopa-responsive dystonia due to GTP cyclohydrolase I (GCH1) mutations are characterized by reduced dopaminergic levels in the striatal microcircuits, which likely account for the paroxysmal exercise-induced dyskinesia (PED) occasionally observed in these disorders[6,7]. The internal globus pallidus (GPi) is the key output structure of the basal ganglia, conveying information from the striatal projection neurons. The GPi is particularly vulnerable to energetic defects. Lesions of this structure result in paroxysmal dyskinesia in disorders of the cerebral energy metabolism such as pyruvate dehydrogenase deficiency[8] or Enoyl Coenzyme A hydratase Short Chain 1 (ECHS1) mutations[9,p.1]. GPi deep brain stimulation can improve paroxysmal movements in G protein subunit alpha o1 (GNAO1)-related PMD [10,p.1], adenylate cyclase 5 (ADCY5)-related dyskinesia [11,p.5,12,p.5] and Paroxysmal non-kinesigenic dyskinesia (PNKD) [13].
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.