USMLE Forum Archives - USMLE Step 1 - Pathology 10
Pathology 10
TheOne - 10-03-06 13:14
A 2-month-old child is evaluated for failure to thrive. As the pediatrician is examining the child, a convulsion occurs. Stat serum chemistries demonstrate severe hypoglycemia, hyperlipidemia, lactic acidosis, and ketosis. Physical examination is remarkable for hepatomegaly, a finding confirmed by CT scan, which also reveals renomegaly. Which of the following diseases best accounts for this presentation?
A. Gaucher's disease
B. McArdle's disease
C. Niemann-Pick disease
D. Pompe's disease
E. Von Gierke's disease
TheOne - 10-03-06 13:14
A 2-month-old child is evaluated for failure to thrive. As the pediatrician is examining the child, a convulsion occurs. Stat serum chemistries demonstrate severe hypoglycemia, hyperlipidemia, lactic acidosis, and ketosis. Physical examination is remarkable for hepatomegaly, a finding confirmed by CT scan, which also reveals renomegaly. Which of the following diseases best accounts for this presentation?
A. Gaucher's disease
B. McArdle's disease
C. Niemann-Pick disease
D. Pompe's disease
E. Von Gierke's disease
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#1
Re: Pathology 10 mosaabma - 10-05-06 05:34 The answer is E, Von Gierke's disease.
Glycogen storage disease type I or von Gierke's disease, is the most common of the glycogen storage diseases. This genetic disease results from deficiency of the enzyme glucose-6-phosphatase. This deficiency impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis. Since these are the two principal metabolic mechanisms by which the liver supplies glucose to the rest of the body during periods of fasting, it causes severe hypoglycemia which may result in convulsion . Reduced glycogen breakdown results in increased glycogen storage in liver and kidneys, causing enlargement of both. Both organs function normally in childhood but are susceptible to a variety of problems in the adult years. Other metabolic derangements include lactic acidosis and hyperlipidemia. Frequent or continuous feedings of cornstarch or other carbohydrates are the principal treatment. Other therapeutic measures may be needed for associated problems
#2
vgood mosaabma
TheOne - 10-10-06 15:08 Explanation: The correct answer is E. Von Gierke's disease is a glycogen storage disease caused by a deficiency of glucose-6-phosphatase. It typically presents with neonatal hypoglycemia, hyperlipidemia, lactic acidosis, and ketosis. Failure to thrive is common in early life; convulsions may occur due to profound hypoglycemia. The glycogen accumulation in von Gierke's disease occurs primarily in the liver and kidneys, accounting for the enlargement of these organs. Gout may develop later because of the derangement of glucose metabolism. Even if you don't remember all of the details of the presentation of these genetic diseases, you should be able to narrow the choices: Gaucher's disease (choice A) and Niemann-Pick disease (choice C) are lipid storage diseases, and would not be expected to produce hypoglycemia. The other diseases are glycogen storage diseases, but McArdle's (choice B) and Pompe's (choice D) disease affect muscle rather than liver, and would not be expected to produce profound hypoglycemia since the liver is the major source for blood glucose.
#3
heart transplantation TheOne - 10-10-06 15:19 hi enrique,
the answer is A, and here's the explanation:
Allograft vascular disease is the main cause of late graft failure and death. The coronary arteries develop a progressive concentric myointimal hyperplasia. This hyperplasia can develop as early as 3 months after transplantation. The cause of the process is unclear. However, CMV infection and recurrent rejection episodes are thought to be associated with the cause. Current research indicates that the initial ischemia/reperfusion injury of the allograft coupled with repeated rejection episodes might contribute to the process.
#4
Re: Pathology 10 galaxy - 05-27-10 18:26 failure to thrive, hypoglycemia, hyperlipidemia, lactic acidosis, and ketosis, hepatomegaly,renomegaly, convulsions....may point towards von gierkes disease.
#5
Re: Pathology 10 babbu5508 - 06-21-10 14:48 von gierkes disease,a glycogen storage disorder, presenting with hypoglycemia, hyperlipidemia, lactic acidosis, and ketosis with hepato and renomegaly
#6
Re: Pathology 10 bingousmle - 06-30-10 22:35 hypoglycemia, hyperlipidemia, lactic acidosis, and ketosis. Physical examination is remarkable for hepatomegaly renomegaly...Von Gierke's
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