Name: حسن عوض الجيد
Age: 3 yrs
lifting up his upper and lower
limb . 1 yrs
The pt. Is an outcome of forceps D. and cried 10 min.
after Delivery, his prenatal history is not signif.
Immediately following D. the Mother noticed that the
newborn was febrile with no sweating. By the age of 6 mo,
they consulted a Dr. how request skin biopsy.
There after the Pt. Became irritable and used to bite his
tonque & nails and in sensitive to any painful stimulus.
p Diagnosis of hereding sensory and autonomic
neuropathy was made by the age of 6 mo.
Lifting of his UL and LL had occurred once by the age of 2
yrs , it was not ass. With loss of neither consceusness nor
spherteric disturbance, and typically relieved by pandol. It
recurred on the last month.
The Pt. Also had developed fracture of left leg 2 mo. Ago.
V.H : Vaccinated
Developrtal hist delayed mile stone
Nutritional H : unable to suck when he was in
Now feeding by syring ( he canot feed him self)
paracetomal for the last
unwell, irritable, normal interaction
No dysmorphism not P or J
PR 85 RR 25 Temp. 36.6
Ht. 99 cm
Wt. 9 kg just < 5th
H. C47 /<5th
DDST: 22 months
Finger: clapping GII – normal skin and hair
Abd: liver 4 cm
MSS: bilateral LL edema: non-pitting
Polydanetly RT foot
1- higher centres O.K
2- CN O.K
3- tone, power , deep, and super ficial reflexes of
UL and LL is O.K
4- sensate – pin brick is impaired all the body
- Touch : O.K
Urine for metabolic screening normal
CT scan show