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I am a pediatrician in the
European Gaza hospital in Gaza Palestine.
I have diagnosed a case of ethyl malonic
aciduria with nephrotic syndrome.
The patient is a female,
age 1 3/12 years and she presented with
vasculopathy as patechiae and accarocyanosis,
which increased with pressure especially
on the application of a tourniquet. She
has groin dermatitis, hypotonia, and brisk
deep reflexes with clonus. She has delayed
mental and motor milestones. CT scan disclosed
brain atrophy with possible brain degeneration.
She has chronic diarrhoea and metabolic
acidosis.. Urine analysis showed +++ protein
in urine.. There were no signs of sepsis
and blood culture and urine culture was
negative . CBC including platelets are normal.
Coagulation profile, kidney and liver functions
are normal. Because we lack appropriate
facilities in the lab, the ethyl malonic
aciduria is not documented yet. We used
to send the samples to Israel but because
of the closure of the road this was not
done for this case. This is the fifth case
of such a condition in our hospital but
the first of possible nephrotic syndrome.
Dr. Ahmed Mansour Jebara
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