Day 8
Diagnose the case, Give the investigations, suggest the management and select the rubrics

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1.  The 2-year-old daughter of a Indian couple, whose parents emigrated from Pakistan, develops progressive loss of motor skills. There is macular pallor on ophthalmic examination, and she has a short stature, thin limbs, but full cheeks. She is also prone to developing hypoglycemia and lactic acidosis. Which of the following metabolic abnormalities is most likely associated with this disorder? Explain. 
(A)  glycogen storage 
(B)  ganglioside accumulation 
(C)  amyloid accumulation 
(D)  corneal deposits 
(E)  cholesterol accumulation
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2.  A 40-year-old man has lipid investigations suggesting familial hypercholesterolemia (increased cholesterol, increased low-density lipoprotein [LDL], and normal triglycerides). This condition is characterized by increased risk for pre- mature atherosclerosis and by the occurrence of tuberous and tendon xanthomas. Before making the assumption of familial hypercholesterolemia, secondary causes need to be considered. Which of the following conditions is most likely to cause secondary hyperlipidemia? 
(A)  cholestatic liver disease 
(B)  alcoholism 
(C)  estrogen replacement 
(D)  malabsorption syndromes 
(E)  chronic lung disease
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3. A 50-year-old man presents with feeling tired and unsteady on his feet. He has a poor appetite and has lost 10 kg. On examination, he appears cachectic, his heart and lungs are normal, but his liver span is 18 cm. His lab tests show a very low magnesium level (0.7 mEq/L). On further questioning, he reports drinking heavily since losing his job. Which of the following is the most likely explanation for his low magnesium level? 
(A)  alcoholism 
(B)  chronic malabsorption 
(C)  DM 
(D)  kwashiorkor 
(E)  hypervitaminosis E 

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4. A 27-year-old woman presents with feeling unwell ever since going on a high vitamin diet. She has dry skin, vomiting, headaches, and amenorrhea. Her examination and lab data are positive for hepatomegaly, splenomegaly, leukopenia, anemia, periosteal changes, sparse and coarse hair, and increased serum lipids. Which of the following is the most likely diagnosis and why? 
(A)  vitamin D intoxication 
(B)  vitamin D deficiency 
(C)  vitamin A deficiency 
(D)  vitamin A intoxication 
(E)  carotenemia 


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5. An 18 year old girl brought to the hospital because of weakness. She feels well, but is under a lot of stress at school. Most of her time is spent studying, dieting, and exercising. She is 5’8”, weighs 35 Kg, and appears unwell. Her blood pressure is 85/70 mm Hg, pulse 50/min, and there is muscle wasting. Which of the following is this patient most likely at risk for? 
Explain.(A)  renal failure 
(B)  ventricular tachyarrhythmias 
(C)  DM 
(D)  hyperthermia 
(E)  pernicious anemia 

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