🧬 Section 533.8 · Congenital Thrombocytopenic Syndromes

Nelson Textbook of Pediatrics 22nd Edition | Inherited platelet disorders: Bernard-Soulier syndrome (giant platelets, GPIb/IX/V deficiency), Glanzmann thrombasthenia (normal platelet count, GPIIb/IIIa deficiency), Wiskott-Aldrich syndrome (microthrombocytopenia, eczema, immunodeficiency, X-linked), TAR syndrome (thrombocytopenia with absent radii), CAMT (congenital amegakaryocytic thrombocytopenia, MPL mutation), MYH9-related disorders (macrothrombocytopenia, deafness, nephritis), platelet storage pool defects (Hermansky-Pudlak, Chediak-Higashi). Treatment: platelet transfusions, rFVIIa, HSCT (WAS, CAMT), desmopressin (for mild defects).

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📋 30 Clinical Scenarios — Congenital Thrombocytopenic Syndromes

📇 High‑Yield Review Cards (Congenital Thrombocytopenia)

🩺 Clinical Recognition: Congenital Thrombocytopenic Syndromes

Select a presentation for diagnostic clues and management.

📋 Stepwise Management of Congenital Thrombocytopenic Syndromes

🔑 Key Principles — Nelson Section 533.8
• Bernard-Soulier syndrome: Giant platelets, thrombocytopenia, defective ristocetin-induced aggregation (no aggregation). GPIb/IX/V deficiency. Treatment: platelet transfusion (risk of alloimmunization). Avoid desmopressin (ineffective).
• Glanzmann thrombasthenia: Normal platelet count, normal bleeding time? severe mucocutaneous bleeding, absent aggregation to all agonists except ristocetin. GPIIb/IIIa deficiency. Treatment: rFVIIa, platelet transfusion.
• Wiskott-Aldrich syndrome (WAS): X-linked, microthrombocytopenia (small platelets), eczema, immunodeficiency (IgA, IgE high). Treatment: HSCT (curative).
• TAR syndrome (thrombocytopenia with absent radii): Bilateral radial anomalies, thrombocytopenia (megakaryocytes present). Improves with age.
• CAMT (congenital amegakaryocytic thrombocytopenia): MPL mutation, absent megakaryocytes, progresses to aplastic anemia. Treatment: HSCT.
• MYH9-related disorders (May-Hegglin, Epstein, Fechtner): Macrothrombocytopenia, neutrophil inclusions, deafness, nephritis.
• Hermansky-Pudlak syndrome: Oculocutaneous albinism, platelet storage pool defect (dense granule deficiency), pulmonary fibrosis, colitis.

    ⚡ Reflex Prompts — Clinical Decisions in Congenital Thrombocytopenia

    📖 Summary: Congenital Thrombocytopenic Syndromes — Nelson Section 533.8