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Genetic and Infectious Disease Overview
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Genetic and Infectious Disease Overview
Genetic and Infectious Disease Overview
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1
Question
What is Lesch-Nyhan syndrome characterized by?
Answer
Gout, intellectual disability, self-mutilating behavior in a boy due to HGPRT deficiency, X-linked recessive.
2
Question
What are the clinical features of Kartagener syndrome?
Answer
Situs inversus, chronic sinusitis, bronchiectasis, infertility due to dynein arm defect affecting cilia.
3
Question
What is the genetic defect involved in Osteogenesis imperfecta type I?
Answer
Type I collagen defect.
4
Question
What are the features of Ehlers-Danlos syndrome?
Answer
Elastic skin, hypermobility of joints, bleeding tendency due to type V collagen defect, type III collagen defect seen in vascular subtype.
5
Question
What are the clinical features of Marfan syndrome?
Answer
Arachnodactyly, lens dislocation upward and temporal, aortic dissection, hyperflexible joints due to fibrillin defect.
6
Question
What is McCune-Albright syndrome associated with?
Answer
Caf-au-lait spots, unilateral polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities due to Gs-protein activating mutation.
7
Question
What is muscular dystrophy most commonly Duchenne characterized by?
Answer
Calf pseudohypertrophy due to X-linked recessive frameshift mutation of dystrophin gene.
8
Question
What is the Gowers sign indicative of?
Answer
Child uses arms to stand up from squat, indicating Duchenne muscular dystrophy.
9
Question
What is a key feature of Becker muscular dystrophy?
Answer
Slow, progressive muscle weakness in boys due to X-linked non-frameshift deletions in dystrophin, which is less severe than Duchenne.
10
Question
What are the features of Patau syndrome?
Answer
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia (trisomy 13).
11
Question
What are the clinical features of Edwards syndrome?
Answer
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect (trisomy 18).
12
Question
What is Down syndrome characterized by?
Answer
Single palmar crease.
13
Question
What are the signs of Wet beriberi?
Answer
Dilated cardiomyopathy, edema due to thiamine (vitamin B1) deficiency.
14
Question
What is Pellagra associated with?
Answer
Dermatitis, dementia, diarrhea due to niacin (vitamin B3) deficiency.
15
Question
What are the symptoms of Scurvy?
Answer
Swollen gums, mucosal bleeding, poor wound healing, petechiae due to vitamin C deficiency.
16
Question
What is McArdle disease?
Answer
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria due to skeletal muscle glycogen phosphorylase deficiency.
17
Question
What are the features of Cori disease?
Answer
Infant with hypoglycemia, hepatomegaly due to debranching enzyme deficiency.
18
Question
What is Von Gierke disease?
Answer
More severe hypoglycemia and hepatomegaly due to glucose-6-phosphatase deficiency.
19
Question
What causes Pompe disease?
Answer
Infant myopathy, infantile hypertrophic cardiomyopathy, exercise intolerance due to lysosomal -1,4-glucosidase deficiency.
20
Question
What is Tay-Sachs disease characterized by?
Answer
Cherry-red spots on macula due to ganglioside accumulation.
21
Question
What is Niemann-Pick disease characterized by?
Answer
Cherry-red spots on macula due to sphingomyelin accumulation and central retinal artery occlusion.
22
Question
What are the symptoms of Gaucher disease?
Answer
Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises due to glucocerebrosidase glucosidase deficiency.
23
Question
What is Familial hypercholesterolemia associated with?
Answer
Achilles tendon xanthoma due to LDL receptor signaling.
24
Question
What is the presentation of IgA deficiency?
Answer
Anaphylaxis following blood transfusion.
25
Question
What is Bruton disease?
Answer
Male child with recurrent infections, no mature B cells due to X-linked agammaglobulinemia.
26
Question
What are the clinical features of Hyper-IgE syndrome (Job syndrome)?
Answer
Recurrent cold noninflamed abscesses, eczema, high serum IgE, eosinophils due to neutrophil chemotaxis abnormality.
27
Question
What condition is characterized by strawberry tongue?
Answer
Scarlet fever, associated with Kawasaki disease.
28
Question
What are the symptoms of Clostridium difficile infection?
Answer
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use.
29
Question
What condition is indicated by back pain, fever, and night sweats?
Answer
Pott disease, which is vertebral tuberculosis.
30
Question
What are the symptoms of Waterhouse-Friderichsen syndrome?
Answer
Adrenal hemorrhage, hypotension, DIC (disseminated intravascular coagulation) due to meningococcemia.