الفهرس 
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Abstract
Inborn errors of metabolism (IEMs) individually are rare but collectively are common. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood.
The aim of the study is to estimate the incidence of inborn error of metabolism in patients presented by acute encephalopathy like picture.
Our study was conducted on thirty patients having symptoms suggestive of inborn errors of metabolism according to criteria suggested by Weiner et al.,2006 .This study was carried out at ER in Ghamra Military Hospital, during the period from November ,2011 to December, 2012 The study included 30 children , 18 males and 12 females, The patients ranged from 1 month to 5 years . Parental consanguinity was recorded in 19 patients while family history of similar condition in five patients.
All patients were subjected to: full history taking, thorough clinical examination and laboratory investigation including: Serum ammonia, serum lactate, arterial blood gases, cerebrospinal fluid ,tandem mass spectroscopy ,organic acid of urine, kidney functions , liver functions, random blood glucose, complete blood picture, CT and MRI.
The result of the study showed: neurological manifestations was the commonest and seizures was the commonest neurological manifestations, it was present in 19 patients and delayed motor development in ten patients , hypotonia in six patients, mental retardation in four patients, hypertonia & spasticity in three patients , muscle weakness in three patients, gait abnormalities in two patients and microcephaly in two patients , speech abnormalities in one patient .
Other manifestations included gastrointestinal manifestations as was observed in 18 patients , failure to thrive in 12 patients , hepatomegly in nine patients ,short stature in eight patients ,hypoglycemia in three patients, ophthalomological manifestations in two patients and cardiac manifestations in two patients .
Laboratory investigations showed that 23 patients had elevation of serum ammonia, 20 patients had metabolic acidosis ,15 patients had elevation of serum lactate, increase in liver enzymes (ALT and AST) in 12 patients and fasting blood glucose(FBG) showed hypoglycemia in 3 patients . While serum creatinine, serum urea were within normal.
Abnormal urinary organic acid analysis was present in 7 patients as the following: Lactate was increased in five patients , isolated lactate elevation in two patients, Increased lactate, hippurate in two Patients, Increased lactate, 2-oxoglutaric acid and Valporic acid in 1 Patient , elevated succinate one patient and Glutaric acid elevated in one Patients .
CT brain was available in 25 patients , 12 patients had cerebral atrophy ,three patients had brain oedema ,two patients had basal ganglia abnormalities.
For the rest of patients, MRI brain was done. MRI was done in 27 patients, result revealed atrophic changes in 12 patients ,basal ganglia calcification in 2 patients and white matter abnormalities in 5 patients in the form of white matter abnormal signals.
Two patients only had bilateral cataract. Echocardigraphy abnormalities were detected in two patients , one of them had cardiomegly and one had VSD and abdominal U/S abnormalities in 12 patients who had hepatomegly.
So we were able to diagnose four patients with possible mitochondrial cytopathy, four patients had possible organic acidemia, one patient had urea cycle defect ,one patient had possible nonketotic hyperglycinemia ,two patients diagnosed as post pertussis encephalopathy and 18 patients we could not reach diagnosis who need further investigations.