Study of neurometabolic disorders in Egyptian children

Background: Metabolic brain diseases usually present with a complex neurological picture so they are often overlooked. This prospective study was undertaken to focus on the clinical aspects, biochemical abnormalities and neuroimaging of the brain in children suffering from neurometabolic disorders

Patients and methods: This study was carried out on 130 patients suspected clinically of having metabolic brain diseases and presented to the neuropediatric clinic, neonatal intensive care unit in Benha faculty of medicine and the neurometabolic specialized clinic in Abu El-Reesh hospital. The diagnosis of neurometabolic disorders was confirmed in 29 children [22%]. They were 19 males and 10 females, their age ranged from 5 days to 10 yrs with mean age 3.61 +/- 2.2 years. They presented with clinical manifestations suggestive of metabolic brain diseases. They were subjected to thorough history, clinical examination, investigations in the form of serum ammonia, serum lactate ,blood glucose, blood gases assessment, ketone bodies in urine, CPK [creatine phosphokinase],urine organic acids, plasma aminogram, enzymatic assay, EMG [Electromyography],EEG[electroencephalography], muscle biopsy, CT and MRI of the brain

Results: Patients were classified according to their clinical presentations, biochemical and radiological findings into 5 groups, Group I, Organic acidemia 10 cases [34.5%], including, Methyl malonic acidemia [4 cases], Biotinidase deficiency [3 cases], Glutaric Aciduria type 1 [2 cases] and Maple syrup urine disease [one case]. Group II, Mitochondrial disorders 9 cases [31%] including, Leigh syndrome [4 cases], Pyruvate dehydrogenase deficiency [2 cases], mitochondrial encephalomyopathy [2 cases] and MELAS syndrome[mitochondrial encephalopathy, lactic acidosis and stroke] [one case]. Group III, Urea cycle abnormalities 5 cases [17.2 %]. Group IV Aminoacidopathy 3 cases [10.4 %]in the form of Phenylketonuria. Group V Fatty acid oxidation defect 2 cases [6.9%]. The main neurological manifestations were global developmental delay [93.1%], seizures [89.7%], hypertonia [65.5%] and microcephaly [55.2%]. Biochemical abnormalities were: Group I: had acidosis in 9 cases[90%] [ketoacidosis in [4 cases],lactic acidosis in[3 cases],acidosis without ketosis in [2 cases]], ketosis only in one case [10%] and hyperammonemia in 7 cases [70%] of cases. GroupII: had mainly lactic acidosis 5 cases [55.6%] and mild hyperammonemia [11.1%]. GroupIII: had isolated hyperammonemia [100%]. Group IV: had hyperphenylalaninemia in [100%] of cases with phenylketonuria. Group V: had lactic acidosis,mild hyperammonemia, hypoglycemia and absent ketosis in [100%]of cases. Neuroimaging showed abnormal findings in the form of basal ganglia abnormalities [41.4%], brain atrophy [27.5%], diffuse demeylination and focal demeylination [6.9%]each and normal findings in [17.3%]

Conclusion: Presence of unexplained neurological symptoms whose severity is out of proportion to the inciting illness should arouse suspicion of a metabolic disease. Screening tests like blood gas analysis, blood levels of lactate, glucose and ammonia, urine examination for ketones and neuroimaging provide valuable clues to the presence of an underlying metabolic disease

Umbilical cord blood procalcitonin as an early predictor of early-onset neonatal sepsis in premature neonates: a comparative study versus C-reactive protein

This study aimed to compare the efficacy of umbilical cord blood levels of procalcitonin [PCT] and C-reactive protein [CRP] as early predictors of early-onset sepsis [within 72 hours since delivery] in premature neonate admitted to NICU. The study included 88 preterm neonates with mean gestational age of 33.8 +/- 3; range: 29-38 weeks and mean birth weight of 1955 +/- 234; range: 1480-2350 gm with a mean 5-min Apgar score was 7.7 +/- 1.1; 7 neonates were small-for-gestational age and 23 neonates required resuscitation at birth. Neonates were categorized according to the presence of sepsis into two groups: Infected neonates had clinical manifestations of sepsis and positive blood culture and Non-infected neonates showed no clinical manifestations and had negative blood culture at 72 hours since delivery. Two blood samples were obtained: umbilical cord blood samples obtained at time of admission to NICU for estimation of serum CRP and plasma PCT and a venous blood sample was obtained either at time of development of clinical signs of sepsis or at 72 hours since delivery in non-infected groups for blood culture and complete blood count [CBC] to assure the clinical diagnosis of infected cases. Sixty neonates [68.2%] developed clinical signs of sepsis and proved by blood culture to be infected. The mean levels of CRP and PCT estimated in umbilical blood sample obtained at time of admission to NICU were significantly higher [p<0.05] in infected compared non-infected neonates. Calculation of diagnostic validity characters of each cutoff point defined plasma PCT cutoff at >0.6 ng/ml as the appropriate value for exclusion of neonatal sepsis with 100% sensitivity and negative predictive value [NPV] and specificity rate of 93% and accuracy of diagnosis with rate of 97.7%. Comparison of the diagnostic validity characters of umbilical cord plasma PCT [at cutoff point of >0.6 ng/ml] and umbilical cord serum CRP [at cutoff point of >10 mg/l] as an early predictor of development of neonatal sepsis showed a significant difference in favor of plasma PCT, [X2= 3.19, p<0.01]. It could be concluded that estimation of plasma PCT in umbilical cord blood of preterm neonates could be used as an early specific and sensitive predictor for the possibility of development of early-onset neonatal sepsis at NICU and plasma PCT level at cutoff point of >0.6 ng/ ml is appropriate for identification of neonates at risk of developing sepsis with 100% sensitivity and negative predictive value

Persistence of anti - HBS antibodies in healthy Egyptian children and response to booster dose of hepatitis vaccine

Long-term protection against hepatitis B virus [HBV] is dependent on persistence of anti-HBs antibodies and/or strong immunological memory. In this study we evaluated the persistence of anti-HBs antibodies in healthy children aged 4-12 years after primary vaccination and the response to a booster dose using recombinant hepatitis B vaccine. Totally, 182 children who had received primary course of hepatitis B vaccine at 2, 4 and 6 months of age were included in this study. Anti-HBs levels were measured using enzyme-linked immunosorbent assay [ELISA] quantitative method to evaluate the immunogenecity of the vaccine. Children with anti-HBs levels < 10 m lU/ml were revaccinated with a pediatric dose of recombinant HB vaccine [0.5 ml: 10 microg] intramuscularly. After 4 weeks their anti-HBs levels were reevaluated to test the response. All children displayed an anamnestic antibody response when tested 4 weeks after the booster dose. The mean anti-HBs levels before and 4 weeks after injection were 2.8 and 108.7mlU/ml respectively. There was a significant negative correlation between age of the children and the prebooster antibody titre, while the age had no effect on the response of children to the booster vaccine. Other host related factors such as gender, BMI which could produce variability in immune response, showed no significant correlation with prebooster or anamnestic anti HBs response. In spite of declining levels of anti-HBs the subjects usually exhibit signs of well preserved B cell memory, they respond rapidly to a booster vaccination. Currently there is no reason to offer booster doses of hepatitis B vaccine within the first 12 years of age