Early amplitude integrated electroencephalography and outcome of very low birth weight infants.

OBJECTIVE: Amplitude integrated electroencephalography (aEEG) has been used in neonates in various clinical and research applications. We hypothesized that an abnormal aEEG score could be used as a predictor of short-term adverse outcome. METHODS: Very low birth weight infants were enrolled in a prospective observational cohort study. Two channel 12-hour continuous aEEG recordings were performed within 48 h of life and at 1 week of age. Recordings were classified as abnormal if they correspond to a 2 point difference in score. Short-term adverse outcome was defined as either death or Bayley scales ≤ 70 at 4 months corrected age. RESULTS: One hundred infants were enrolled. Their average gestational age was 27.9 ± 2.6 weeks and average birth weight was 997 ± 299 gram. Fifteen enrolled infants died, one was withdrawn, 29 lost to follow up, and 55 examined at 4 months. Those with adverse outcome had significantly increased percentages of abnormal EEG at 1 week of life (31% vs. 8%), severe intraventricular hemorrhage (IVH) (27% vs. 4.5%), intubation in the delivery room (45% vs. 16%), and increased average days of mechanical ventilation (16 days vs. 4 days). Combining abnormal aEEG at 1 week of life to severe IVH on early head ultrasound increased the sensitivity of ultrasound to detect short-term adverse outcome from 27% to 50%. CONCLUSION: aEEG is feasible in premature infants and when its data at 1 week of life are combined with early head ultrasound, sensitivity for detecting short-term adverse outcomes was increased.

Lysosomal Storage Disorders in Egyptian Children.

OBJECTIVE: To describe the spectrum, relative prevalence and molecular background of lysosomal storage disorders in Egypt. METHODS: The authors evaluated the selective screening program for the diagnosis of lysosomal storage disorders in Egyptian children presenting to the inherited metabolic disease unit at Cairo University Children's Hospital, the largest tertiary care pediatric hospital in Egypt, over a six-year period (April 2008 through April 2014). During this period, 1,065 suspected children were assessed clinically, biochemically and some genetically. RESULTS: Two hundred and eleven children (aged 44 ± 32 mo; 56 % boys, 82 % with consanguineous parents) were confirmed with 21 different lysosomal disorders. The diagnostic gap ranged between 2 mo and 14 y (average 25 mo). Mucopolysaccharidoses were the most common group of diseases diagnosed (44.5 %), while Maroteaux-Lamy, Gaucher and nephropathic cystinosis were the most commonly detected syndromes (17.1, 14.7 and 13.7 %, respectively). Eighty mutant alleles and 17 pathogenic mutations were detected in 48 genetically assessed confirmed patients (30 Gaucher, 16 cystinosis and two Niemann-Pick type C patients). CONCLUSIONS: This report is the first to describe relative frequency and spectrum of clinical and molecular data in a large cohort of Egyptian lysosomal patients. The crude estimate denotes that over 80 % of Egyptian lysosomal patients do not have access to optimal diagnosis. Upgrading diagnostic and genetic services for lysosomal storage disorders in Egypt is absolutely necessary.

Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: a 5 year report.

OBJECTIVE: In order to enhance awareness and promote registry for inborn errors of metabolism (IEMs) in Egypt, we aimed to evaluate the prevalence and main clinical findings of IEMs detectable by tandem mass spectrometry (MS/MS) among high risk pediatric patients presenting to our tertiary care facility at Cairo University Children's Hospital over a period of 5 years and to compare the disease burden in Egypt in the absence of a national screening program for inherited metabolic disorders with other populations. METHODS: During this period 3380 Egyptian children were suspected of having IEMs based on clinical/laboratory presentation and were analyzed by MS/MS. Confirmatory testing was performed according to flagged analyte by MS/MS using a different sample type such as plasma or urine or by a different technique such as GC/MS. RESULTS: A relatively high number of patients (203/3380 (6%)) were confirmed with 17 different types of IEMs. Averages for age at diagnosis for different disorders ranged from 2.5 months to 6.6 years with general developmental delay and irreversible neurological damage being the most common presenting features (75.9% and 65.5%, respectively). Amino acid disorders (127/203 (62.6%)), mainly phenylketonuria (100/203 (49.3%)), were the most encountered, followed by organic acidemias (69/203 (34%)), while fatty acid oxidation defects (7/203 (3.4%)) were relatively rare. 88% of patients were born to consanguineous parents. CONCLUSIONS: The development of a nationwide screening program for IEMs is mandatory for early detection of these potentially treatable disorders, prompt and properly timed therapeutic intervention and prevention of the devastating neurological outcomes.