usmle6789
Forum Senior
Topics: 33
Posts: 49
|
i already posted this Q yesterday. we came to conclsion that it is renal tubular acidosis. your opinion plz..
a 1 week old new born has had poor feeding ,vomiting and progressive lethargy over the past 4 days. She was born at term. Pregnancy, labour and delivery were normal.she had no congenital abnormalities. She is being breast-fed. She has a healthy 2yr old brother.
Sister died at 10 days of age after a full term birth. Examination shows a decreased muscle tone and poor responsiveness. Reflexes are normal. HCO3- 8 meq/l, PH 7.15 and plasma ammonia level is 10 times the upper limit of normal. Most likely cause?
1] mitochondrial disorder
2] mucopolysacharride disorder
3] organic acid metabolic disorder
4] renal tubular acidosis
5] X- linked leukodystrophy
I think its 3 here. But really I don’t have any clue about this Q
|
| mikyro
Forum Junior
Topics: 0
Posts: 81
|
already posted this Q yesterday. we came to conclsion that it is renal tubular acidosis. your opinion plz..
a 1 week old new born has had poor feeding ,vomiting and progressive lethargy over the past 4 days. She was born at term. Pregnancy, labour and delivery were normal.she had no congenital abnormalities. She is being breast-fed. She has a healthy 2yr old brother.
Sister died at 10 days of age after a full term birth. Examination shows a decreased muscle tone and poor responsiveness. Reflexes are normal. HCO3- 8 meq/l, PH 7.15 and plasma ammonia level is 10 times the upper limit of normal. Most likely cause?
1] mitochondrial disorder
2] mucopolysacharride disorder
3] organic acid metabolic disorder
4] renal tubular acidosis
5] X- linked leukodystrophy
I think its 3 here. But really I don’t have any clue about this Q
Ok. let's sum up:
1 week old new born
poor feeding ,vomiting and progressive lethargy over the past 4 days
born at term
decreased muscle tone and poor responsiveness
Reflexes are normal
HCO3- 8 meq/l, PH 7.15 and plasma ammonia level is 10 times the upper limit of normal.
Mitochondrial disorder - sisters affected, males normal; ruled out
hyperammonia, metabolic acidosis, muscle weakness, lethargy, poor feeding and vomiting - onset several days after birth
seems a disorder of urea cycle - so, it's 3
___________________
the same miky - always ready to help my patients and friends as well
|
|
| |
| | |
