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Neurology340 papers

Autonomic neuropathy

Last edited: 4/14/2026

Overview

Autonomic neuropathy involves dysfunction of the autonomic nervous system, often manifesting as impaired control over involuntary bodily functions such as heart rate, blood pressure, and gastrointestinal motility. This condition can arise from various underlying causes, including genetic syndromes, autoimmune disorders, and metabolic deficiencies 34.

Diagnosis

  • Clinical Presentation: Symptoms include orthostatic hypotension, gastrointestinal disturbances, sudomotor dysfunction, and bladder dysfunction 3.
  • Neurophysiological Tests: Quantitative sudomotor axon reflex test (QSART) and thermoregulatory sweat test for sudomotor function 3.
  • Imaging and Biopsies: Rectal biopsy for Hirschsprung disease when gastrointestinal symptoms are prominent 624.
  • Cardiovascular Assessment: Heart rate variability (HRV) analysis and tilt table tests for autonomic cardiovascular function 4.
  • Genetic Testing: Consider in cases associated with syndromes like Mowat-Wilson, Pallister-Hall, and others 81420.

    • Management

  • Symptomatic Treatment:
    • - Orthostatic Hypotension: Fludrocortisone, midodrine, and increased salt intake 4. - Gastrointestinal Symptoms: Prokinetic agents like metoclopramide, and management of constipation 2.
  • Supportive Care: Regular monitoring of cardiovascular and gastrointestinal functions 24.
  • Vitamin D Supplementation: Consider in patients with suspected vitamin D deficiency to potentially mitigate cardiac autonomic neuropathy 4.

    • Special Populations

  • Pediatrics: Early diagnosis and management crucial in syndromes like Hirschsprung disease, where long-term sequelae can significantly impact quality of life 268.
  • Comorbidities: Patients with genetic syndromes (e.g., Mowat-Wilson, Pallister-Hall) require multidisciplinary care addressing multiple anomalies 81420.

    • Key Recommendations

  • Perform Rectal Biopsy for Suspected Hirschsprung Disease in pediatric patients with gastrointestinal symptoms to confirm diagnosis 6.
    • (Evidence: Moderate)
  • Evaluate Autonomic Function using QSART and tilt table tests in patients with suspected autonomic neuropathy to guide management 34.
    • (Evidence: Moderate)
  • Consider Vitamin D Supplementation in prediabetic patients with signs of cardiac autonomic neuropathy to potentially improve autonomic function 4.
    • (Evidence: Weak)

    References

    1 Rentea RM, Bokova E, Frischer JS, Gosain A, Langer JC, Levitt MA et al.. Evaluation and Management of Total Colonic Hirschsprung Disease: A Comprehensive Review From the American Pediatric Surgical Association (APSA) Hirschsprung Disease Interest Group. Journal of pediatric surgery 2024. link 2 Ambartsumyan L, Patel D, Kapavarapu P, Medina-Centeno RA, El-Chammas K, Khlevner J et al.. Evaluation and Management of Postsurgical Patient With Hirschsprung Disease Neurogastroenterology & Motility Committee: Position Paper of North American Society of Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN). Journal of pediatric gastroenterology and nutrition 2023. link 3 Maier A, Kapfenberger R, Katona I, Weis J, Schulz JB, Rolke R. Nonregional small fibre neuropathy in cases of autoimmune autonomic neuropathy. Journal of neurology 2022. link 4 Bai J, Zhang Y, Li L, Yang H, Yang Y, Lv H. Relationship between vitamin D status and cardiac autonomic neuropathy in prediabetes. Asia Pacific journal of clinical nutrition 2022. link.0018) 5 Arencibia Pérez B, Delgado Sánchez JJ, Marchena Gómez J. Aganglionic megacolon in the adult. Urgent and surprising cause of intestinal occlusion. Revista espanola de enfermedades digestivas 2019. link 6 Stewart CL, Kulungowski AM, Tong S, Langer JC, Soden J, Sømme S. Rectal biopsies for Hirschsprung disease: Patient characteristics by diagnosis and attending specialty. Journal of pediatric surgery 2016. link 7 Chung WD, Lim GY, Kim SY, Chung JH, Kim SJ. Haddad syndrome presenting with abdominal distension associated with long-segment aganglionosis. Clinical imaging 2012. link 8 Smigiel R, Szafranska A, Czyzewska M, Rauch A, Zweier Ch, Patkowski D. Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. Journal of applied genetics 2010. link 9 Fernández RM, Núñez-Torres R, González-Meneses A, Antiñolo G, Borrego S. Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region. BMC medical genetics 2010. link 10 Lai D, Schroer B. Haddad syndrome: a case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease. Journal of child neurology 2008. link 11 Verheij JB, Sival DA, van der Hoeven JH, Vos YJ, Meiners LC, Brouwer OF et al.. Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2006. link 12 Alkuraya FS, Lin AE, Irons MB, Kimonis VE. Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. American journal of medical genetics. Part A 2005. link 13 Shuman L, Youmans D. Haddad syndrome: a case study. Neonatal network : NN 2005. link 14 Haynes JH, Bagwell CE. Hirschprung's disease and imperforate anus in Pallister-Hall syndrome: a new association. Journal of pediatric surgery 2003. link00411-1) 15 Mäkitie O, Heikkinen M, Kaitila I, Rintala R. Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis. Journal of pediatric surgery 2002. link 16 Tsilou E, Stratakis CA, Rubin BI, Hay BN, Patronas N, Kaiser-Kupfer MI. Ophthalmic manifestations of Allgrove syndrome: report of a case. Clinical dysmorphology 2001. link 17 Gül D, Oztürk H. Unilateral proximal femoral focal deficiency and Hirschsprung disease. Clinical dysmorphology 2000. link 18 Aurora P, Wallis CE. Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease. Clinical dysmorphology 1999. link 19 Urushihara N, Nakagawa Y, Tanaka N, Uemura N, Yoshida A. Ondine's curse and Hirschsprung's disease: neurocristopathic syndrome. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 1999. link 20 Brooks AS, Breuning MH, Osinga J, vd Smagt JJ, Catsman CE, Buys CH et al.. A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). Journal of medical genetics 1999. link 21 Dudin AA, Rambaud-Cousson A. Syndrome of infantile osteopetrosis and Hirschsprung disease in seven children born to four consanguineous unions in two families. American journal of medical genetics 1993. link 22 Jespers A, Buntinx I, Melis K, Vaerenberg M, Janssens G. Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome?. American journal of medical genetics 1993. link 23 Yomo A, Taira T, Kondo I. Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs. American journal of medical genetics 1991. link 24 Menardi G, Hager J. Total colonic aganglionosis. Progress in pediatric surgery 1989. link 25 Peters ME, Li BU, Kalayoglu M. Giant colonic ulcers associated with Hirschsprung's. Journal of pediatric gastroenterology and nutrition 1988. link 26 Ferri GL, Zareh S, Amadori A, Bastone A, Sbraccia M, Dahl D et al.. 2,5-Hexanedione-induced accumulations of neurofilament-immunoreactive material throughout the rat autonomic nervous system. Brain research 1988. link90952-3) 27 O'Dell K, Staren E, Bassuk A. Total colonic aganglionosis (Zuelzer-Wilson syndrome) and congenital failure of automatic control of ventilation (Ondine's curse). Journal of pediatric surgery 1987. link80504-3) 28 Tsuto T, Okamura H, Fukui K, Obata-Tsuto HL, Terubayashi H, Yanagihara J et al.. Immunohistochemical investigations of gut hormones in the colon of patients with Hirschsprung's disease. Journal of pediatric surgery 1985. link80118-4) 29 Frykberg T, Esscher T, Påhlman S, Olsson Y. Neuron-specific enolase as a marker for intestinal neurons. An immunocytochemical study of the human intestinal tract. Acta neuropathologica 1985. link 30 Vinores SA, May E. Neuron-specific enolase as an immunohistochemical tool for the diagnosis of Hirschsprung's disease. The American journal of surgical pathology 1985. link 31 Taguchi T, Tanaka K, Ikeda K. Immunohistochemical study of neuron specific enolase and S-100 protein in Hirschsprung's disease. Virchows Archiv. A, Pathological anatomy and histopathology 1985. link 32 Dail WG, Dziurzynski R. Substance P immunoreactivity in the major pelvic ganglion of the rat. The Anatomical record 1985. link

    Original source

    1. [1]
      Evaluation and Management of Total Colonic Hirschsprung Disease: A Comprehensive Review From the American Pediatric Surgical Association (APSA) Hirschsprung Disease Interest Group. — Rentea RM, Bokova E, Frischer JS, Gosain A, Langer JC, Levitt MA et al. Journal of pediatric surgery (2024)
    2. [2]
      Evaluation and Management of Postsurgical Patient With Hirschsprung Disease Neurogastroenterology & Motility Committee: Position Paper of North American Society of Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN). — Ambartsumyan L, Patel D, Kapavarapu P, Medina-Centeno RA, El-Chammas K, Khlevner J et al. Journal of pediatric gastroenterology and nutrition (2023)
    3. [3]
      Nonregional small fibre neuropathy in cases of autoimmune autonomic neuropathy. — Maier A, Kapfenberger R, Katona I, Weis J, Schulz JB, Rolke R Journal of neurology (2022)
    4. [4]
      Relationship between vitamin D status and cardiac autonomic neuropathy in prediabetes. — Bai J, Zhang Y, Li L, Yang H, Yang Y, Lv H Asia Pacific journal of clinical nutrition (2022)
    5. [5]
      Aganglionic megacolon in the adult. Urgent and surprising cause of intestinal occlusion. — Arencibia Pérez B, Delgado Sánchez JJ, Marchena Gómez J Revista espanola de enfermedades digestivas (2019)
    6. [6]
      Rectal biopsies for Hirschsprung disease: Patient characteristics by diagnosis and attending specialty. — Stewart CL, Kulungowski AM, Tong S, Langer JC, Soden J, Sømme S Journal of pediatric surgery (2016)
    7. [7]
      Haddad syndrome presenting with abdominal distension associated with long-segment aganglionosis. — Chung WD, Lim GY, Kim SY, Chung JH, Kim SJ Clinical imaging (2012)
    8. [8]
      Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. — Smigiel R, Szafranska A, Czyzewska M, Rauch A, Zweier Ch, Patkowski D Journal of applied genetics (2010)
    9. [9]
      Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region. — Fernández RM, Núñez-Torres R, González-Meneses A, Antiñolo G, Borrego S BMC medical genetics (2010)
    10. [10]
      Haddad syndrome: a case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease. — Lai D, Schroer B Journal of child neurology (2008)
    11. [11]
      Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. — Verheij JB, Sival DA, van der Hoeven JH, Vos YJ, Meiners LC, Brouwer OF et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (2006)
    12. [12]
      Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. — Alkuraya FS, Lin AE, Irons MB, Kimonis VE American journal of medical genetics. Part A (2005)
    13. [13]
      Haddad syndrome: a case study. — Shuman L, Youmans D Neonatal network : NN (2005)
    14. [14]
      Hirschprung's disease and imperforate anus in Pallister-Hall syndrome: a new association. — Haynes JH, Bagwell CE Journal of pediatric surgery (2003)
    15. [15]
      Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis. — Mäkitie O, Heikkinen M, Kaitila I, Rintala R Journal of pediatric surgery (2002)
    16. [16]
      Ophthalmic manifestations of Allgrove syndrome: report of a case. — Tsilou E, Stratakis CA, Rubin BI, Hay BN, Patronas N, Kaiser-Kupfer MI Clinical dysmorphology (2001)
    17. [17]
      Unilateral proximal femoral focal deficiency and Hirschsprung disease. — Gül D, Oztürk H Clinical dysmorphology (2000)
    18. [18]
      Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease. — Aurora P, Wallis CE Clinical dysmorphology (1999)
    19. [19]
      Ondine's curse and Hirschsprung's disease: neurocristopathic syndrome. — Urushihara N, Nakagawa Y, Tanaka N, Uemura N, Yoshida A European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie (1999)
    20. [20]
      A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). — Brooks AS, Breuning MH, Osinga J, vd Smagt JJ, Catsman CE, Buys CH et al. Journal of medical genetics (1999)
    21. [21]
      Syndrome of infantile osteopetrosis and Hirschsprung disease in seven children born to four consanguineous unions in two families. — Dudin AA, Rambaud-Cousson A American journal of medical genetics (1993)
    22. [22]
      Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome? — Jespers A, Buntinx I, Melis K, Vaerenberg M, Janssens G American journal of medical genetics (1993)
    23. [23]
      Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs. — Yomo A, Taira T, Kondo I American journal of medical genetics (1991)
    24. [24]
      Total colonic aganglionosis. — Menardi G, Hager J Progress in pediatric surgery (1989)
    25. [25]
      Giant colonic ulcers associated with Hirschsprung's. — Peters ME, Li BU, Kalayoglu M Journal of pediatric gastroenterology and nutrition (1988)
    26. [26]
      2,5-Hexanedione-induced accumulations of neurofilament-immunoreactive material throughout the rat autonomic nervous system. — Ferri GL, Zareh S, Amadori A, Bastone A, Sbraccia M, Dahl D et al. Brain research (1988)
    27. [27]
      Total colonic aganglionosis (Zuelzer-Wilson syndrome) and congenital failure of automatic control of ventilation (Ondine's curse). — O'Dell K, Staren E, Bassuk A Journal of pediatric surgery (1987)
    28. [28]
      Immunohistochemical investigations of gut hormones in the colon of patients with Hirschsprung's disease. — Tsuto T, Okamura H, Fukui K, Obata-Tsuto HL, Terubayashi H, Yanagihara J et al. Journal of pediatric surgery (1985)
    29. [29]
      Neuron-specific enolase as a marker for intestinal neurons. An immunocytochemical study of the human intestinal tract. — Frykberg T, Esscher T, Påhlman S, Olsson Y Acta neuropathologica (1985)
    30. [30]
      Neuron-specific enolase as an immunohistochemical tool for the diagnosis of Hirschsprung's disease. — Vinores SA, May E The American journal of surgical pathology (1985)
    31. [31]
      Immunohistochemical study of neuron specific enolase and S-100 protein in Hirschsprung's disease. — Taguchi T, Tanaka K, Ikeda K Virchows Archiv. A, Pathological anatomy and histopathology (1985)
    32. [32]
      Substance P immunoreactivity in the major pelvic ganglion of the rat. — Dail WG, Dziurzynski R The Anatomical record (1985)
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