No abstract

Background: Repeated crises in children with sickle cell anaemia (SCA), which is a manifestation of disease severity, results in depletion of their minimal tissue folate stores, with higher likelihood of folate deficiency. The study aimed to determine the relationship between disease severity and the folate status of children with SCA attending University of Nigeria Teaching Hospital (UNTH), Enugu. Methods: This was a hospital based, cross-sectional study conducted between September 2018 and March 2019. One hundred participants were recruited, consisting of 50 children having sickle cell crisis and 50 age and gender matched hae- moglobin AA genotype controls. Relevant information was documented using a pretested questionnaire. Sickle cell severity score was determined using frequency of crisis, admissions and transfusions in the preceding one year, degree of liver and splenic enlargement, life-time cummulative frequency of specific complications of SCA, leucocyte count and haematocrit. Results: Folate deficiency was observed in eight percent of the subjects and none of the controls. The difference was not significant (Fisher’s exact = 4.167, p=0.117). The odds of being folate deficient was 8.5 times more likely during anaemic crisis than in vaso-occlusive crisis, though not significant (95% C.I 0.05 – 89.750, p = 0.075). The mean SCA severity score was 8.06 ± 3.64, signifying a moderate SCA severity in the study population. There was a no relationship between folate status and severity of SCA (Fisher’s exact = 0.054, p = 0.949) Conclusion: Folate status in children with SCA is not affected by their disease severity. Therefore, there may be no need for additional folate supplementation with increasing severity of sickle cell anaemia. Keywords: Sickle cell anaemia; disease severity; folate status; children; Enugu.

Background: Epilepsy is the most common childhood neurological disorder in Nigeria. Treatment of epilepsy is long-term and sometimes lifelong with anti-seizure medications. There are conflicting reports on the effect of anti-seizure medications on serum folate. There is therefore a need to determine the effect of a commonly used anti-seizure medication's on serum folate levels of children. This would provide an evidence-based consideration for folic acid supplementation in children on anti-seizure medication as has been suggested by some studies. Study objectives: To determine whether serum folate levels were lower in children taking long-term carbamazepine or sodium valproate, compared to a control group. Methods: Serum folic acid levels were measured from well-nourished children between the ages of 1–17 years on carbamazepine and sodium valproate monotherapy and their age/sex-matched controls, using spectrophotometry. Results: The mean serum folate levels of patients on carbamazepine (43) and sodium valproate (22) were 0.032 mg/l ± 0.009 and 0.028 mg/l  ±  0.008, respectively. The mean folate levels of the controls were 0.046 mg/l  ±  0.03 ( p = 0 001). No statistically significant difference was observed between the serum folate levels of children on the two anti-seizure medications, that is, carbamazepine and valproate. Conclusion: The children on treatment with carbamazepine and sodium valproate for more than 6 months had statistically significantly lower serum levels of folic acid compared to the standard reference range and controls. The serum folate levels of children on carbamazepine were not statistically different from those on sodium valproate.

Introduction: Glanzmann’s Thrombasthenia (GT) is a rare autosomal recessive bleeding disorder due to defective platelet membrane glycoprotein GP IIb/IIIa (integrin αIIbβ3). The prevalence is estimated at 1:1,000,000 and it is commonly seen in areas where consanguinity is high. Case Presentation: The authors report a 12 year old Nigerian girl of Igbo ethnic group, born of non-consanguineous parents, who presented with prolonged heavy menstrual bleeding which started at menarche 3 months earlier, weakness and dizziness. She had a past history of recurrent episodes of prolonged epistaxis, gastrointestinal bleeding and gum bleeding during early childhood. On examination, she was severely pale with a haemic murmur and vaginal bleeding. The initial diag- nosis was menorrhagia secondary to bleeding diathesis possibly von Willebrand’s Disease. She was on supportive treatment with fresh whole blood, fresh frozen plasma and platelets until diagnosis of GT was made in the USA. Currently, she is on 3 monthly intramuscular Depo-provera with remarkable improvement. Conclusion: To the best of our knowledge, this is the first documented report of GT in our environment where consan- guinity is rarely practised. Our health facilities require adequate diagnostic and treatment facilities for rare diseases like GT. Keywords: Glanzmann’s thrombasthenia; Menorrhagia; Nigerian girl.

No abstract