- A failure of neutrophils to generate an immune response and lab values that indicate elevated IgE levels are signs of ________.
- Job’s syndrome
- Wiskott-Aldrich syndrome
- Carcinoid syndrome
- Mallory-Weiss syndrome
Job’s syndrome (hyper-IgE syndrome) is characterized by defective neutrophil chemotaxis leading to recurrent skin and lung infections, along with markedly elevated serum IgE levels.
- Which of the following syndromes corresponds to right-sided valvular disease and diarrhea?
- Job’s syndrome
- Wiskott-Aldrich syndrome
- Carcinoid syndrome
- Mallory-Weiss syndrome
Carcinoid syndrome results from serotonin-secreting tumors, causing flushing, diarrhea, and fibrosis of right-sided heart valves leading to tricuspid regurgitation and pulmonary stenosis.
- Lab values that indicate elevated IgA levels and presence of thrombocytopenia are signs of ________.
- Job’s syndrome
- Wiskott-Aldrich syndrome
- Carcinoid syndrome
- Mallory-Weiss syndrome
Wiskott–Aldrich syndrome features thrombocytopenia, eczema, and recurrent infections. Immunoglobulin profile shows low IgM but elevated IgA and IgE levels.
- Which of the following syndromes is commonly found in males and often presents with arthritis?
- Reiter’s syndrome
- Sjögren’s syndrome
- Kartagener’s syndrome
- Ehlers-Danlos syndrome
Reiter’s syndrome (reactive arthritis) typically follows an infection and presents with the triad of arthritis, urethritis, and conjunctivitis, and is more common in young men.
- Which of the following syndromes corresponds to immotile sperm and presence of reoccurring sinusitis?
- Reiter’s syndrome
- Sjögren’s syndrome
- Kartagener’s syndrome
- Ehlers-Danlos syndrome
Kartagener’s syndrome is a form of primary ciliary dyskinesia, causing immotile sperm leading to male infertility and impaired mucociliary clearance resulting in recurrent sinusitis and bronchiectasis.
- Which of the following syndromes corresponds to the presence of arthritis and xerophthalmia and is commonly found in females?
- Reiter’s syndrome
- Sjögren’s syndrome
- Kartagener’s syndrome
- Ehlers-Danlos syndrome
Sjögren’s syndrome is an autoimmune disorder affecting exocrine glands, causing dry eyes (xerophthalmia), dry mouth, and often arthralgias or arthritis. It predominantly affects middle-aged women.
- Which of the following syndromes corresponds to excessive movement occurring at joints and loose skin?
- Reiter’s syndrome
- Sjögren’s syndrome
- Kartagener’s syndrome
- Ehlers-Danlos syndrome
Ehlers–Danlos syndrome comprises a group of connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility due to collagen defects.
- Which of the following syndromes corresponds to hematuria, glomerulonephritis, and pulmonary dysfunction?
- Brown-Séquard syndrome
- Thoracic outlet syndrome
- Angelman syndrome
- Goodpasture syndrome
Goodpasture syndrome is an autoimmune disease in which anti-GBM antibodies attack the glomerular and alveolar basement membranes, causing rapidly progressive glomerulonephritis and pulmonary hemorrhage.
- Which of the following syndromes corresponds to the presence of ipsilateral motor loss and contralateral spinothalamic tract damage?
- Brown-Séquard syndrome
- Thoracic outlet syndrome
- Angelman syndrome
- Goodpasture syndrome
Brown–Séquard syndrome results from hemisection of the spinal cord, causing ipsilateral motor (pyramidal) and proprioceptive loss, with contralateral loss of pain and temperature (spinothalamic).
- Which of the following syndromes corresponds to C8/T1 nerve involvement and weakness in hand muscles?
- Brown-Séquard syndrome
- Thoracic outlet syndrome
- Angelman syndrome
- Goodpasture syndrome
Thoracic outlet syndrome involves compression of the lower trunk (C8–T1) of the brachial plexus as it passes between the first rib and clavicle, leading to hand muscle weakness and paresthesias.
- Which of the following syndromes corresponds to maternal genetic phenotype syndrome?
- Brown-Séquard syndrome
- Thoracic outlet syndrome
- Angelman syndrome
- Goodpasture syndrome
Angelman syndrome results from loss of the maternal allele on chromosome 15q11–13 (with paternal uniparental disomy), causing severe intellectual disability, ataxia, and a happy demeanor.
- Which of the following syndromes corresponds to abnormal development of the 3rd and 4th pharyngeal pouches?
- Acute coronary syndrome
- ARDS
- Budd-Chiari syndrome
- DiGeorge syndrome
DiGeorge syndrome leads to failure of the 3rd and 4th pharyngeal pouches to develop, causing thymic aplasia, hypocalcemia, and cardiac defects.
- Which of the following syndromes leads to an increased risk of stroke?
- Acute coronary syndrome
- ARDS
- Budd-Chiari syndrome
- DiGeorge syndrome
Acute coronary syndrome reflects myocardial ischemia. Patients post-MI have an elevated risk of ischemic stroke due to left ventricular thrombus formation and arrhythmias.
- Which of the following syndromes corresponds to abdominal pain, ascites, and hepatic vein occlusions?
- Acute coronary syndrome
- ARDS
- Budd-Chiari syndrome
- DiGeorge syndrome
Budd–Chiari syndrome is hepatic vein thrombosis causing hepatomegaly, right upper quadrant pain, ascites, and liver dysfunction.
- Which of the following syndromes corresponds to increased pulmonary permeability and fluid entering the lung space?
- Acute coronary syndrome
- ARDS
- Budd-Chiari syndrome
- DiGeorge syndrome
Acute respiratory distress syndrome (ARDS) is characterized by diffuse alveolar damage, increased capillary permeability, and pulmonary edema leading to severe hypoxemia.
- Which of the following syndromes can be caused by high doses of tetracyclines?
- Dubin-Johnson syndrome
- Fanconi syndrome
- Edwards syndrome
- Cri du chat syndrome
Fanconi syndrome is a proximal renal tubular dysfunction that can be acquired or inherited, leading to glycosuria, aminoaciduria, and phosphaturia.
- Which of the following syndromes is caused by poor liver excretion?
- Dubin-Johnson syndrome
- Fanconi syndrome
- Edwards syndrome
- Cri du chat syndrome
Dubin–Johnson syndrome is due to defective hepatic excretion of conjugated bilirubin, causing benign conjugated hyperbilirubinemia and a darkly pigmented liver.
- Which of the following syndromes corresponds to a chromosomal deficit of #5?
- Dubin-Johnson syndrome
- Fanconi syndrome
- Edwards syndrome
- Cri du chat syndrome
Cri du chat syndrome results from a deletion on the short arm of chromosome 5, characterized by a high-pitched “cat-like” cry, microcephaly, and intellectual disability.
- Which of the following syndromes corresponds to a chromosomal deficit of #18?
- Dubin-Johnson syndrome
- Fanconi syndrome
- Edwards syndrome
- Cri du chat syndrome
Edwards syndrome (trisomy 18) is due to an extra chromosome 18 and presents with severe intellectual disability, growth retardation, and characteristic organ malformations.
- Which of the following syndromes corresponds to a chromosomal deficit of #13?
- Dubin-Johnson syndrome
- Patau syndrome
- Edwards syndrome
- Down syndrome
Patau syndrome (trisomy 13) results from an extra copy of chromosome 13 and is characterized by severe intellectual disability, polydactyly, cleft lip/palate, and cardiac defects.