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IntroductionBreath-holding spells (BHSs) are involuntary pauses of breathing, sometimes accompanied by loss of consciousness. They usually occur in response to an upsetting or surprising situation. Breath-holding spells are usually caused by either a change in the usual breathing pattern or a slowing of the heart rate. In some children, BHSs may be related to iron deficiency anemia. The aim of the work was to study the clinical and laboratory profile of BPHs in children presented to the Neuropediatric Clinic at Sohag University Hospital.MethodsAn observational prospective study was done at Sohag University Hospital over a period of one year on children diagnosed as having BHSs by clinical history and laboratory evaluation, including complete blood count (CBC), serum iron, serum ferritin, total iron binding capacity, and Electroencephalography (EEG).ResultsDuring the period of study (one year), we reviewed data of 32 children who had been diagnosed as having BHSs. We found that cyanotic spells (71.88%) predominated over pallid spells. There were positive family histories (31.25%) and consanguinity (53.135) in the studied patients. We found a high incidence of iron deficiency anemia (62.5%) in association with BHS. Abnormal EEGs were found in (65.63%) of studied children.ConclusionBHS is a common, important problem associated with iron deficiency anemia, which is, in turn, a common nutritional problem in our country.

PA and MAA have numerous nonspecific presentations, potentially leading to delayed diagnosis or misdiagnosis. In this paper, we present the clinical and biochemical characteristics of MMA and PA patients at initial presentation. Results. This is a retrospective review of 20 patients with PA ( n = 10 ) and MMA ( n = 10 ). The most observed symptoms were vomiting (85%) and refusing feeding (70%). Ammonia was 108.75 ± 9.3  μmol/l, showing a negative correlation with pH and bicarbonate and positive correlation with lactate and anion gap. Peak ammonia did not correlate with age of onset ( r = 0.11 and p = 0.64 ) or age at diagnosis ( r = 0.39 and p = 0.089 ), nor did pH ( r = 0.01 , p = 0.96 ; r = − 0.25 , p = 0.28 ) or bicarbonate ( r = 0.07 , p = 0.76 ; r = − 0.22 , p = 0.34 ). There was no correlation between ammonia and C3 : C2 ( r = 0.1 and p = 0.96 ) or C3 ( r = 0.23 and p = 0.32 ). The glycine was 386 ± 167.1  μmol/l, and it was higher in PA ( p = 0.003 ). There was a positive correlation between glycine and both pH ( r = 0.56 and p = 0.01 ) and HCO3 ( r = 0.49 and p = 0.026 ). There was no correlation between glycine and ammonia ( r = − 0.435 and p = 0.055 ) or lactate ( r = 0.32 and p = 0.160 ). Conclusion. Clinical presentation of PA and MMA is nonspecific, though vomiting and refusing feeding are potential markers of decompensation. Blood gas, lactate, and ammonia levels are also good predictors of decompensation, though increasing levels of glycine may not indicate metabolic instability.

Background Glutaric acidemia type 1 (GA1) is an inherited neurometabolic disease with significant morbidity. However, neuro-radiological correlation is not completely understood. Objective The study aimed to characterize the neuroimaging findings and their association with neurological phenotype in GA1 children. Methods Twenty-six Egyptian children (median age = 12 months) diagnosed with GA1 underwent clinical evaluation and brain magnetic resonance imaging (MRI). We objectively assessed the severity of neurological phenotype at the time of MRI using movement disorder (MD) and morbidity scores. Evaluation of brain MRI abnormalities followed a systematic and region-specific scoring approach. Brain MRI findings and scores were correlated with MD and morbidity scores, disease onset, and presence of seizures. Results Fifteen (57.7%) cases had insidious onset, eight (30.8%) manifested acute onset, whereas three (11.5%) were asymptomatic. Ten (38.5%) cases had seizures, five of which had no acute encephalopathic crisis. Putamen and caudate abnormalities (found in all acute onset, 93.3 and 73.3% of insidious onset, and one of three asymptomatic cases) were significantly related to MD (p = 0.007 and 0.013) and morbidity (p = 0.005 and 0.003) scores. Globus pallidus abnormalities (50% of acute onset, 46.7% of insidious onset, and one of three of asymptomatic cases) were significantly associated with morbidity score (p = 0.023). Other MRI brain abnormalities as well as gray and white matter score showed no significant association with neurological phenotype. Younger age at onset, acute onset, and seizures were significantly associated with worse neurological manifestations. Conclusion Patients with GA1 manifest characteristic and region-specific brain MRI abnormalities, but only striatal affection appears to correlate with neurological phenotype.

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