Today i met a boy, seven months old. He was brought to the hospital with the complaint of yellow coloration of the skin and sclera (jaundice) and poor growth with significant weight loss and muscle wasting.
on evaluation of the history, the baby was born normal with birth weight of 3.75kg which is considered normal weight at birth and had no perinatal and postnatal complications except having breech presentation and delivered by ceaserian section. few weeks after birth, the baby was admitted to the hospital complaining of projectile vomiting. he was also prescribed with formula milk as supplement but in spite of all these, the baby still doesn't seem to gain weight but lose more weight instead. a liver biopsy was performed denoting of suspicion of liver disease since the baby was presented by jaundice with very dark yellow colour of the urine and pale colour stool which denotes presence of conjugated bilirubin that pointed to either; 1) hepatocellular jaundice or 2) obstructive jaundice. family history shows that the parents are first degree consanguineous.
on physical examination;
weight: 2.7kg
length: 54cm
head circumference: 35.5cm
midarm circumference: 6cm
signs of visible severe wasting;-
1. stick like leg - due to wasting of the cuff muscle
2. baggy pant sign (longitudinal skin fold on the thigh)
3. buttocks had no pad of fat
4. transverse diameter of the hip is less than transverse diameter of the abdomen
5. visible outline of the ribs - due to wasting of the pectoralis muscle
6. distended abdomen
7. triangular old man face - due to wasting of the buccal pad of fat
the body weight was < 60% without edema
diagnosis was made by exclusion;
1. infection
2. billiary atresia
3. inborn error of metabolism
the baby was finally diagnosed as having marasmus secondary to inborn error of metabolism. =(
we was told by the doctor that in this case there is no hope for the baby to survive. the only thing that can be done is to give genetic counseling to the parents for their future offspring.
poor baby, at this young age you had suffered so much. i pity the mother. she even cried looking at her child's condition but had nothing left to be done to save her baby. it looks as if she is just waiting for her baby to die. how sad is that.. i cannot imagine if the same situation happen to my children later on. hope that the mother is strong enough to face this situation. don't worry mam, if one day Allah had decided to take back omar, insyaAllah he will be waiting for you in the heaven =)
wallahu'alam~
on evaluation of the history, the baby was born normal with birth weight of 3.75kg which is considered normal weight at birth and had no perinatal and postnatal complications except having breech presentation and delivered by ceaserian section. few weeks after birth, the baby was admitted to the hospital complaining of projectile vomiting. he was also prescribed with formula milk as supplement but in spite of all these, the baby still doesn't seem to gain weight but lose more weight instead. a liver biopsy was performed denoting of suspicion of liver disease since the baby was presented by jaundice with very dark yellow colour of the urine and pale colour stool which denotes presence of conjugated bilirubin that pointed to either; 1) hepatocellular jaundice or 2) obstructive jaundice. family history shows that the parents are first degree consanguineous.
on physical examination;
weight: 2.7kg
length: 54cm
head circumference: 35.5cm
midarm circumference: 6cm
signs of visible severe wasting;-
1. stick like leg - due to wasting of the cuff muscle
2. baggy pant sign (longitudinal skin fold on the thigh)
3. buttocks had no pad of fat
4. transverse diameter of the hip is less than transverse diameter of the abdomen
5. visible outline of the ribs - due to wasting of the pectoralis muscle
6. distended abdomen
7. triangular old man face - due to wasting of the buccal pad of fat
the body weight was < 60% without edema
diagnosis was made by exclusion;
1. infection
2. billiary atresia
3. inborn error of metabolism
the baby was finally diagnosed as having marasmus secondary to inborn error of metabolism. =(
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| marasmic child |
we was told by the doctor that in this case there is no hope for the baby to survive. the only thing that can be done is to give genetic counseling to the parents for their future offspring.
poor baby, at this young age you had suffered so much. i pity the mother. she even cried looking at her child's condition but had nothing left to be done to save her baby. it looks as if she is just waiting for her baby to die. how sad is that.. i cannot imagine if the same situation happen to my children later on. hope that the mother is strong enough to face this situation. don't worry mam, if one day Allah had decided to take back omar, insyaAllah he will be waiting for you in the heaven =)
wallahu'alam~

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