Differential diagnosis US Medical PG Flashcards - Medical Study Cards
Master Differential diagnosis with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
Differential diagnosis Flashcard Deck - 10 Cards
Flashcard 41: What are the classic clinical features of Neurofibromatosis type 2 (NF2)?
Answer: Bilateral acoustic schwannomas, juvenile cataracts, meningiomas, and ependymomas.
Extra: Inheritance: Autosomal Dominant (AD).
Gene: NF2 on chromosome 22 (Merlin protein).
Mnemonic: 22 (Chr 22), 2 ears (Bilateral schwannomas), 2 eyes (Cataracts).
Flashcard 42: What are the clinical features and genetics of von Hippel-Lindau (VHL) disease?
Answer: Characterized by:
- Hemangioblastomas (retina, cerebellum, medulla)
- Pheochromocytomas
- Bilateral Renal Cell Carcinomas (RCC)
- Cavernous hemangiomas
- Pancreatic cysts/tumors
Inheritance: AD, VHL gene on Chromosome 3
Extra: VHL Syndrome (von Hippel-Lindau):
HIPPEL:
Hemangioblastomas
Increased renal cell carcinoma risk
Pheochromocytomas
Pancreatic cysts/tumors
Eye (retinal hemangioblastomas)
L (chromosome 3)
Flashcard 43: Which trisomy is associated with Edward's syndrome?
Answer: Trisomy 18
Extra: Features: Severe intellectual disability, rocker-bottom feet, micrognathia (small jaw), low-set ears, clenched hands (overlapping fingers), congenital heart defects.
Pregnancy Quad Screen:
Decreased: β-hCG, α-fetoprotein (AFP), unconjugated estriol (uE3), and Inhibin A (usually decreased or normal).
Prognosis: Most cases result in death within the first year of life.
Flashcard 44: What is the genetic defect in Cri-du-chat syndrome?
Answer: Microdeletion of short arm of chromosome 5 (5p-)
Extra: Clinical features: microcephaly, severe intellectual disability, high-pitched cry (mewing), epicanthal folds, and cardiac abnormalities (VSD).
Flashcard 45: What are the clinical features and genetic basis of Angelman syndrome?
Answer: Mental retardation, seizures, ataxia, inappropriate laughter ("Happy Puppet")
Extra: Angelman syndrome is an imprinting disorder caused by a defect/deletion in the maternal copy of the UBE3A gene on chromosome 15 (maternal chromosome 15). Maternal imprinting; paternal gene is silenced.
Flashcard 46: What is the classic triad of Alport syndrome?
Answer: Progressive hereditary nephritis, sensorineural deafness, and ocular disturbances (e.g., anterior lenticonus).
Extra: - Genetics: Usually X-linked dominant (COL4A5 mutation).
- Pathophysiology: Defect in Type IV collagen synthesis.
- Key findings: "Basket-weave appearance" on electron microscopy due to irregular thinning and thickening of the glomerular basement membrane.
Flashcard 47: What are the classic clinical features of Ehlers-Danlos syndrome?
Answer: Hyperextensible skin, hypermobile joints, easy bruising/bleeding, and berry aneurysms.
Extra: Ehlers-Danlos Syndrome (EDS):
• Inheritance: AD or AR
• Pathogenesis: Defect in collagen synthesis (often cross-linking step).
• Common types: Type V (Classical - skin/joints), Type III (Vascular - fragile vessels).
• Associated with: Joint dislocations, organ rupture, and berry aneurysms.
Flashcard 48: Clinical features and inheritance of Primary Ciliary Dyskinesia (PCD)
Answer: Autosomal recessive defect in dynein arms leading to ineffective mucus clearance, recurrent sinusitis, bronchiectasis, and infertility. (Situs inversus is seen in 50% cases - Kartagener syndrome).
Extra: Clinical features: Recurrent sinopulmonary infections, bronchiectasis, male and female infertility (immotile sperm/cilia). Mechanism: Dynein arm protein defect in cilia. Inheritance: Usually AR.
Flashcard 49: What are the clinical features and inheritance of Chediak-Higashi syndrome?
Answer: Recurrent pyogenic infections, partial albinism, peripheral neuropathy, giant granules in neutrophils.::Features?
Extra: Mechanism: Faulty lysosomal trafficking (LYST gene mutation).
Inheritance: Autosomal Recessive (AR).
Mnemonic: LYST and CH syndrome both have 'Y'.
Flashcard 50: Salmonella enteritidis produces an inflammatory diarrhea, with _____ present in stool
Answer: leukocytes
Extra:
https://onlinemeded.org/spa/infectious-disease?ref=anki
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