🧬 655.2 · Other Autonomic Neuropathies

Nelson Textbook of Pediatrics 22nd Edition — Congenital insensitivity to pain with anhidrosis (CIPA, HSAN IV, NTRK1), Allgrove syndrome (AAAS, alacrima, achalasia, adrenal insufficiency), HSAN I (SPTLC1, adult-onset), HSAN II (WNK1, childhood-onset), HSAN V (NGFB), HSAN VI (DST), HSAN VII (SCN11A), HSAN VIII (PRDM12). Management: orthostatic hypotension, anhidrosis/hyperthermia, painless injuries, adrenal crisis.

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📋 30 Clinical Scenarios — Other Autonomic Neuropathies (CIPA, Allgrove, HSAN)

📇 High‑Yield Review Cards — CIPA, Allgrove, HSAN

🩺 Clinical Recognition: Other Autonomic Neuropathies

Select a presentation for diagnostic clues and management.

📋 Stepwise Management of Other Autonomic Neuropathies

    ⚡ Reflex Prompts — Clinical Decisions

    📊 Key Tables — HSAN Types & Other Autonomic Neuropathies

    Hereditary Sensory & Autonomic Neuropathies (HSAN) Types I-VIII

    TypeGeneInheritanceAge of OnsetKey Features
    HSAN I (AD)SPTLC1/2, ATL1/3, DNMT1ADAdultDistal sensory loss (pain/temp), ulcers, Charcot joints, deafness, dementia (DNMT1)
    HSAN II (AR)WNK1, FAM134B, KIF1A, SCN9AARChildhoodDiffuse sensory loss, acral mutilation, areflexia, cognitive impairment
    HSAN III (FD)IKBKAP (ELP1)ARBirthAlacrima, absent papillae, crises, Ashkenazi (covered in 655.1)
    HSAN IV (CIPA)NTRK1 (TRKA)ARBirthAnhidrosis (recurrent hyperthermia), pain insensitivity, self-mutilation, intellectual disability
    HSAN VNGFBARBirthPain insensitivity, preserved sweating, fractures
    HSAN VIDSTARBirthSevere autonomic dysfunction, respiratory distress, death in infancy
    HSAN VIISCN11A (Nav1.9)ADBirthPain insensitivity, hyperhidrosis, GI dysmotility
    HSAN VIIIPRDM12ARBirthPain insensitivity, anhidrosis, intellectual disability

    Other Autonomic Disorders

    DisorderGeneInheritanceKey Features
    Allgrove syndrome (AAA)AAASARAlacrima, achalasia, adrenal insufficiency (ACTH-resistant), autonomic neuropathy
    Congenital central hypoventilation syndrome (CCHS)PHOX2BADAlveolar hypoventilation, Hirschsprung, autonomic dysfunction
    Rett syndromeMECP2X-linkedBreathing irregularities, autonomic dysfunction
    ⚠️ CIPA (HSAN IV) — Critical Management

    Anhidrosis: Recurrent hyperthermia (fevers without infection). Cooling vests, cold baths, avoid overheating, hydration.

    Pain insensitivity: Self-mutilation (biting fingers/tongue, corneal ulcers, fractures). Protective measures: dental extraction of sharp teeth, splints, protective eye wear, regular skin/joint exams.

    Intellectual disability: Special education, behavioral support.

    No alacrima (unlike FD).

    💊 Allgrove Syndrome (Triple A) — Management

    Alacrima: Artificial tears, moisture chamber glasses.

    Achalasia: Esophageal dilation, pneumatic dilatation, Heller myotomy.

    Adrenal insufficiency: Hydrocortisone (stress doses), fludrocortisone (if mineralocorticoid deficiency). Glucocorticoid replacement lifelong.

    Autonomic neuropathy: Orthostatic hypotension (fludrocortisone, midodrine), anhidrosis (cooling).

    Data from Nelson 655.2; Ryan MM. Other autonomic neuropathies.

    📖 Summary: Other Autonomic Neuropathies — Nelson 655.2