USMLE Forum Archives - USMLE Step 1 - Pathology 68
Pathology 68
TheOne - 09-23-07 18:15
A 10-year-old child is suspected of having pellagra because of chronic symptoms including diarrhea, a red scaly rash, and mild cerebellar ataxia. However, his diet is not deficient in protein and he appears to be ingesting adequate amounts of niacin. A sister has a similar problem. Chemical analysis of his urine demonstrates large amounts of free amino acids. Which of the following is the most likely diagnosis?
A. Alkaptonuria
B. Carcinoid syndrome
C. Ehlers-Danlos syndrome
D. Hartnup's disease
E. Scurvy
TheOne - 09-23-07 18:15
A 10-year-old child is suspected of having pellagra because of chronic symptoms including diarrhea, a red scaly rash, and mild cerebellar ataxia. However, his diet is not deficient in protein and he appears to be ingesting adequate amounts of niacin. A sister has a similar problem. Chemical analysis of his urine demonstrates large amounts of free amino acids. Which of the following is the most likely diagnosis?
A. Alkaptonuria
B. Carcinoid syndrome
C. Ehlers-Danlos syndrome
D. Hartnup's disease
E. Scurvy
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#2
Re: Pathology 68 Youngdoctor - 12-07-07 13:54 I ma not sure.perhaps it could be.What is the correct answer and explanation.A new disease never heard of anything before. :-/
#4
Re: Pathology 68
TheOne - 12-30-07 21:33 Explanation: The correct answer is D. The child has Hartnup's disease. This condition clinically resembles pellagra ("diarrhea, dementia, and dermatitis"), and may be misdiagnosed as this nutritional (niacin) deficiency. In fact, niacin therapy may actually be helpful in controlling the symptoms. The underlying problem is a defect in the epithelial transport of neutral amino acids, including tryptophan, which can act as a precursor of niacin. The defective amino acid transport leads to poor absorption of dietary amino acids as well as excess amino acid secretion in the urine. Alkaptonuria (choice A) is characterized by urine that turns black upon standing and a debilitating arthritis. Carcinoid syndrome (choice B) is seen in patients with carcinoid tumor. It is characterized by episodes of flushing, diarrhea, hypertension, and bronchoconstriction. Ehlers-Danlos syndrome (choice C) is a disease characterized by abnormal collagen formation leading to very elastic skin, joint problems, and fragility of some blood vessels and the intestines. Scurvy (choice E) is due to vitamin C deficiency. It is characterized by easy bruising and gum problems.
#9
Re: Pathology 68 galaxy - 05-29-10 03:17 A 10-year-old child is suspected of having pellagra because of chronic symptoms including diarrhea, a red scaly rash, and mild cerebellar ataxia. However, his diet is not deficient in protein and he appears to be ingesting adequate amounts of niacin. A sister has a similar problem. Chemical analysis of his urine demonstrates large amounts of free amino acids. Which of the following is the most likely diagnosis?
D. Hartnup's disease..presents with pellagra like dermatosis.
#10
Re: Pathology 68 babbu5508 - 06-21-10 02:35 a person with Hartnup disease cannot absorb amino acids properly from the intestine and cannot reabsorb them properly from tubules in the kidneys.with decreased tryptophan , the body is unable to make a sufficient amount of the, niacinamide, leading to pellagra like symptoms
#11
Re: Pathology 68 bingousmle - 06-30-10 22:53 Carcinoid syndrome??It is characterized by episodes of flushing, diarrhea, hypertension, and bronchoconstriction. so not possible
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