الفهرس 
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Abstract
THE aim of this work was to detect the incidence of IEM among neonates with risk factors, and to diagnose IEM as early as possible in order to minimize morbidity and mortality in high risk neonates.
This study included 40 neonates admitted to El Mahalla NICU with sepsis like symptoms, including lethargy, poor feeding, convulsions, persistant metabolic acidosis, persistent vomiting, and previous sib death of unidentified cause.
All included patients were subjected to detailed full history with special emphasis on age, sex, gestational age, antenatal and perinatal history, symptoms of the patient, age of onset of symptoms, relation of symptoms to feeding, similar cases in the family, parent consanguinity, and previous neonatal death. Through clinical examinations, laboratory investigations included CBC, CRP, electrolytes (Na, K, Ca), and metabolic screening by tandem mass spectrometry MS/MS. Other investigations for IEM including lactate, ammonia, organic acids in urine were done according to each case.
42.5% (17 patients) had positive consanguineous parents, 37.5% (15 patients) had family history of sib death of unidentified cause, 2.5 % (1 patient) had sib died of suspected IEM, The mean age of parents of studied patients was 26.82 ±
4.97 for mothers and 32.35±7.076 for fathers.
77.5% (31 patients) of the studied patients were males, all patients were normal at birth with no complications during delivery, then they start to develop symptoms at age ranged from 1 -10 days with a mean of 3.35 ± 2.155 days. The main presenting symptom was sepsis like symptoms (poor suckling, poor crying and hypo activity) poor crying, in 15 patients (37.5%), convulsions in 6 patients (15%), followed by previous sib death or IEM in 3 patients (7.5%). Their weight at presentation ranged from 1.200 – 3.800 Kg with a mean of 2.658 ± 0.616.
Metabolic screen by MS/MS showed specific findings in 32.5% (13 patients) including high leucine, valine, isoleucine, tyrosine, propyonil carnitine, others. Organic acids in urine were needed in a patient to confirm the possibility of methymalonic academia, galactose 1 phosphate is needed to confirm galactosemia. Ammonia was high in 32.5% (13 patients), and lactate was high in 12.5% (5 patients).
32.5 % (13 patients) were diagnosed as having IEM, 7 of them (53.8%) had urea cycle defect, 2 (15.4%) had maple syrup urine disease, methymalonic academia, fatty acid oxidation defect, mitochondrial disease, galactosemia were diagnosed in one patient. out of them 12 patients (30%) were discharged from NICU after therapy, and 1 patient (2.5%) died the one who had moitochondrial disease.
Two patients were diagnosed by diseases other than IEM, one had hyperinsulinesm and another one had congenital myopathy. 2 patients were proved to be normal. Five patients (12.5%) were suspected to have IEM (tyrosenemia, mitochondrial disease, organic academia) 4 of them died before final diagnosis, and one transferred to another NICU.
We did not reach a specific diagnosis in 18 patients (45%), this was due to 12 (30%) of them died and 6 patients (15%) were transferred or discharged from NICU before diagnosis.
In the current study there was significant difference between diagnosed and undiagnosed patients as regard history of sibling death (p=0.012), serum ammonia (p=0.002), discharge from NICU (p=0.000), fisher s exact test (0.001).