Volume 1 Issue 2

Case Report: Metabolic Encephalopathy vs Seizures: Distinguishing between Triphasic Waves and Epileptiform Discharges

Jocelyn Y. Cheng*

Continuous Video EEG (CVEEG) monitoring is often utilized in the evaluation of impaired consciousness. Non convulsive seizures may be distinguished from encephalopathies in this manner. However, Triphasic Waves (TWs), commonly associated with metabolic dysfunction, may assume a pattern concerning for epileptiform activity, calling into question the presence of electrographic seizures, and thus requiring further assessment for elucidation. The following case describes the transient resolution of quasiperiodic TWs after acute administration of glucose in a patient with hypoglycemic encephalopathy.

Cite this Article: Cheng JY. Metabolic Encephalopathy vs Seizures: Distinguishing between Triphasic Waves and Epileptiform Discharges. Int J Neurol Dis. 2017;1(2): 044-047.

Published: 05 December 2017

Review Article: Lysosomal Storage Disorders (LSDs): The Prevalence in the Eastern Province of Saudi Arabia

Nouriya A. Al-Sannaa*, Hind Y. Al-Abdulwahed and Mohammed S. Al-Ghamdi

The aim of this hospital-based retrospective analysis is to estimate the prevalence of Lysosomal Storage Disease (LSDs) in the Eastern Province of Saudi Arabia between 1983 and 2016. A total number of 89 Saudi patients from 43 families were diagnosed with different types of LSDs within this time period. Genotypes were available for 24 families (55 %). The overall prevalence for LSDs was estimated to be 42.2 per 100,000 live birth. This figure is significantly higher than that previously reported for other countries. This high prevalence was anticipated in such communities with an increased degree of consanguinity. In our studied population, Lipidosis was found to be the most common diagnosed subtype (40 % of LSDs) followed by Mucopolysaccharidosis (37%). A single common genotype was identified for Mucopolysaccharidosis type VI, ARSB (c.753C > GY251X), and Neuronal Ceroid Lipofuscinosis type 5, CLN5 (c.595C > Tp.R199X) in geographically isolated population at the Eastern Province explaining the relatively high prevalence for these two disorders (8/100,000, & 4.74/100,000 respectively). This information will justify evaluating the LSDs as candidates for the national newborn screening program. Estimating the birth prevalence will provide the opportunity to increase the awareness among the healthcare providers for these inherited live-threatening disorders.

Cite this Article: Al-Sannaa NA, Al-Abdulwahed HY, Al-Ghamdi MS. Lysosomal Storage Disorders (LSDs): The Prevalence in the Eastern Province of Saudi Arabia. Int J Neurol Dis. 2017;1(2): 038-043.

Published: 05 October 2017

Opinion: Tooth Hypoplasia for Differential Diagnosis of Childhood Epilepsy Associated with SLC13A5 Mutations

Jonathan J. Kopel, Yangzom D. Bhutia, Sabarish Ramachandran, J. Josh Lawrence, Volker Neugebauer, and Vadivel Ganapathy*

Epilepsy remains one of the most common neurological conditions affecting both children and adults. Various genes have been linked to epileptic conditions, which has unveiled, in many cases, mechanistic aspects of epileptogenesis and also lead to development of appropriate treatment strategies. However, neonatal epilepsy continues to be a significant problem, both in terms of understanding the pathogenic mechanisms and designing effective therapies. Early Infantile Epileptic Encephalopathy (EIEE) occur within the first month of life when the brain is most vulnerable and its symptoms least likely to be recognized. Recently, loss-of-function mutations in human SLC13A5, a Na+-coupled transporter for citrate in neuronal cells, have been linked to a unique form of EIEE. Patients with SLC13A5 mutations present with delayed motor development, impaired speech and language, and seizures. More importantly, there are significant defects in teeth (hypoplasia) and bone (osteopenia) development, not seen in children with other forms of EIEE. Teeth and bone contain high levels of citrate where it plays an obligatory role in mineralization. It is likely that SLC13A5 is essential for citrate accumulation in these tissues and that loss-of-function mutations in the transporter leads to defective mineralization of bone and teeth. As EIEE can arise from mutations in different genes, the exact genes involved cannot be predicted just based on epileptic phenotype. We propose that tooth hypoplasia is a telltale sign of defective function of the citrate transporter SLC13A5 and that this easily observable phenotype is unique to children with EIEE arising from loss-of-function mutations in this gene. Therefore, tooth hypoplasia could be very useful in the differential diagnosis of EIEE associated with SLC13A5 mutations, thus being of great practical value in the clinics in the selection of appropriate treatment strategies for the affected children.

Cite this Article: Kopel JJ, Ganapathy V, Bhutia YD, Ramachandran S, Lawrence JJ, et al. Tooth Hypoplasia for Differential Diagnosis of Childhood Epilepsy Associated with SLC13A5 Mutations. Int J Neurol Dis. 2017;1(2): 033-037.

Published: 27 September 2017

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