Valproate-Induced Hyperammonemic Encephalopathy Following Accidental Ingestion in a Toddler.

Clinical manifestations of valproic acid (VPA) toxicity can range from just mild confusion and drowsiness to serious encephalopathy, leading to depressed sensorium and even coma and death. The exact cause(s) of how VPA influences the integrity of brain function remains unknown. Nevertheless, several mechanisms have been postulated including a surge in the blood ammonia concentration. Valproic acid-induced hyperammonemic encephalopathy is a rare yet serious sequalae and that can lead to grave outcomes. We report a case of hyperammonemic encephalopathy with preserved liver function following a moderate VPA intoxication in a toddler, who was successfully managed conservatively. Additionally, we briefly discuss mechanistic basis of VPA toxicity and highlight some of the available potential therapies.

Investigating the awareness, behavior, and attitude toward epilepsy among university students in Benghazi, Libya.

OBJECTIVE: The aim of this study was to explore the level of knowledge regarding epilepsy and attitudes prevalent toward people with epilepsy (PWE) among Libyan university students in comparison with international data. METHODS: A self-administrated questionnaire on awareness regarding epilepsy and behaviors toward PWE was distributed among undergraduate students enrolled in the University of Benghazi. The collected data were analyzed against responses from an Italian survey that utilized a similar questionnaire to explore epilepsy-related knowledge and attitudes among Italian university students in Rome (Mecarelli et al., 2007). RESULTS: Out of the 500 interviewed students, 96% successfully completed the survey. Further, 96.6% asserted that they possessed some knowledge regarding epilepsy, gained mainly from their families (76.6%). A total of 57.5% considered epilepsy to be a psychiatric disorder while 11.6% recommended psychological tests for the diagnosis of epilepsy. Moreover, 37.5% believed in ancient superstitions, such as possession by evil forces, as the underlying cause of the condition, and 31.8% recommended traditional remedies to cure it. Further, 66.6% deemed epilepsy as a barrier for career prospects, 41% indicated that it presents an impediment in participation in sports, and 35% considered it as an obstacle in marriage. Additionally, epilepsy was perceived as a severe illness by 53.3% of the respondents and considered to be a moderately severe condition by 43.7%. The responses were found to be statistically significant (P<0.05) against the responses from the Italian study. CONCLUSION: There is a reasonable level of awareness regarding epilepsy among Libyan students, though a lack of accuracy in the acquired knowledge exists. The ancient misconceptions regarding the nature of epilepsy and negative attitudes toward PWE appear to be rather common among the Libyan students. Consequently, the discrepancies in the views between the two surveys concerning the ways in which epilepsy is perceived and PWE are treated were extremely evident, thus reflecting the already established view that epilepsy faces greater stigma as a health condition in developing countries in comparison with Western nations.

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.

BACKGROUND: Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms. METHODS: An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities. RESULTS: These guidelines set out practical recommendations and include algorithms for the diagnosis and treatment of late-onset Pompe disease. They detail the ideal diagnostic workup, indicate the patients in whom enzyme replacement therapy should be initiated, and provide guidance on appropriate patient monitoring. CONCLUSIONS: These guidelines will serve to increase awareness of the condition, optimize patient diagnosis and treatment, reduce disease burden, and improve patient outcomes.

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

The corpus callosum is the principal cerebral commissure connecting the right and left hemispheres. The development of the corpus callosum is under tight genetic control, as demonstrated by abnormalities in its development in more than 1,000 genetic syndromes. We recruited more than 25 families in which members affected with corpus callosum hypoplasia (CCH) lacked syndromic features and had consanguineous parents, suggesting recessive causes. Exome sequence analysis identified C12orf57 mutations at the initiator methionine codon in four different families. C12orf57 is ubiquitously expressed and encodes a poorly annotated 126 amino acid protein of unknown function. This protein is without significant paralogs but has been tightly conserved across evolution. Our data suggest that this conserved gene is required for development of the human corpus callosum.

Breast-feeding and weaning patterns in Benghazi, Libyan Arab Jamahiriya

An interview survey of 200 mothers attending the emergency service of Al-Fateh Paediatric Hospital, Benghazi, showed that prelacteal feed was given to 18.5% of babies and breast-feeding was ever initiated in 90.5%. After three months exclusive breast-feeding was continued in less than 30%, mixed feeding in 44%-71% and supplementary feeding [with and without breast-feeding] in 65%-97%. Locally consumed food like fruit juice, vegetables, cooked rice and cereals and boiled eggs in mashed form were used as supplementary foods. No association was revealed between the type of feeding and childhood episodes of any illness, including diarrhoea or acute respiratory infection. Measures for prolonged breast-feeding, substitute artificial feeding [when indicated] and supplementary feeding are suggested