Syndrome recognition

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Syndrome Recognition - Spotting the Pattern

  • Core Concept: A syndrome is a recognizable pattern of signs, symptoms, and data pointing to a specific pathology. Your goal is to connect the dots, not just list isolated findings.
  • Process:
    • Gather: Collect comprehensive data (History, Exam, Labs, Imaging).
    • Filter: Identify the most unique or defining features ("pivot points").
    • Match: Compare this cluster of findings against known syndromes.

Marfan Syndrome: Suspect in patients with the triad of tall stature with long limbs (arachnodactyly), lens dislocation (ectopia lentis), and aortic root dilation. It's an autosomal dominant defect in the FBN1 gene.

Classic Triads & Pentads - Connect the Dots

  • Charcot's Triad (Acute Cholangitis):
    • Fever
    • Jaundice
    • Right Upper Quadrant (RUQ) Pain
  • Reynolds' Pentad (Suppurative Cholangitis):
    • Charcot's Triad +
    • Hypotension & Altered Mental Status
  • Beck's Triad (Cardiac Tamponade):
    • Muffled Heart Sounds
    • Jugular Venous Distention (JVD)
    • Hypotension
  • Virchow's Triad (Thrombosis Risk):
    • Stasis (e.g., immobility)
    • Hypercoagulability (e.g., Factor V Leiden)
    • Endothelial Injury (e.g., surgery)
  • Aortic Stenosis Triad: 📌 (SAD)
    • Syncope
    • Angina
    • Dyspnea (on exertion)

Whipple's Triad for Hypoglycemia: 1) Symptoms of hypoglycemia (e.g., sweating, confusion), 2) Low plasma glucose measured at the time of symptoms, and 3) Relief of symptoms after glucose administration.

High-Yield Genetic Syndromes - It's in the Genes

  • Down Syndrome (Trisomy 21)

    • Intellectual disability, flat facies, single palmar crease, duodenal atresia.
    • ↑ risk of ALL and early-onset Alzheimer's Disease.
  • Edwards Syndrome (Trisomy 18)

    • Rocker-bottom feet, micrognathia, clenched hands with overlapping fingers.
    • 📌 Eighteen = Election age.
  • Patau Syndrome (Trisomy 13)

    • Cleft lip/palate, polydactyly, holoprosencephaly.
    • 📌 Puberty at 13.
  • Turner Syndrome (45,X)

    • Short stature, webbed neck, shield chest, coarctation of the aorta.
  • Klinefelter Syndrome (47,XXY)

    • Tall stature, gynecomastia, testicular atrophy.
  • Fragile X Syndrome (CGG repeat)

    • Macroorchidism, long face, large everted ears.

Cri-du-chat Syndrome (5p deletion): Patients present with a distinctive high-pitched, cat-like cry, microcephaly, and severe intellectual disability.

Karyotype of Down Syndrome (Trisomy 21)

Paraneoplastic Syndromes - The Body's Betrayal

  • Remote effects of a tumor, not due to metastasis or local invasion. Mediated by hormones, peptides, or immune cross-reactivity.

Endocrine

  • Cushing Syndrome: ↑ACTH → ↑Cortisol. Small Cell Lung Cancer (SCLC).
  • SIADH: ↑ADH → Hyponatremia. SCLC.
  • Hypercalcemia: ↑PTHrP. Squamous Cell Lung Cancer, renal, breast.

Neurologic

  • Lambert-Eaton (LEMS): Antibodies to presynaptic Ca²⁺ channels. SCLC.
  • Cerebellar Degeneration: Antibodies (Anti-Yo, Hu, Ri). SCLC, gynecologic, breast.

Other

  • Dermatomyositis: Adenocarcinomas (ovary, lung).
  • Acanthosis Nigricans: Gastric, lung, uterine.

Paraneoplastic Syndromes by System

⭐ Lambert-Eaton syndrome presents with proximal muscle weakness that improves with repeated stimulation, distinguishing it from Myasthenia Gravis.

  • Syndrome recognition is pattern recognition-connecting seemingly disparate clinical findings into a unified diagnosis.
  • Prioritize classic triads and pathognomonic signs as high-yield diagnostic clues.
  • A patient's age and demographics are critical filters for the differential diagnosis.
  • Master the hallmark features of key genetic syndromes (e.g., Down, Marfan, Turner).
  • Recognize non-random defect clusters like the VACTERL and CHARGE associations.
  • Always link the syndrome to its underlying pathophysiology or genetic defect.

Practice Questions: Syndrome recognition

Test your understanding with these related questions

A 66-year old man with a 45-pack-year smoking history presents with abdominal pain and constipation. He reports that he has had a worsening cough for several months and has lost 20 pounds over this time period. You order a complete metabolic profile, which demonstrates hypercalcemia. A chest radiograph shows a centrally located mass suspicious for malignancy. Which of the following is the most likely explanation?

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Flashcards: Syndrome recognition

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Are Charcot-Bouchard microaneurysms seen on angiogram? _____

TAP TO REVEAL ANSWER

Are Charcot-Bouchard microaneurysms seen on angiogram? _____

No

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