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Congenital Axonal Neuropathy with Encephalopathy

Presentation

All of these patients presented at birth or soon thereafter with hypotonia associated with distal weakness and diffuse areflexia. Central nervous system manifestations included microcephaly, seizures, and developmental delay. Outcomes were poor. [pubmed.ncbi.nlm.nih.gov]

Its pathogenesis, clinical manifestations, diagnosis and treatment options, and perioperative anesthetic considerations are presented. [searchworks-lb.stanford.edu]

Pituitary disease: presentation, diagnosis, and management J Neurol Neurosurg Psychiatry 2004; 75(Suppl III):iii47–iii52. CrossRef PubMed Google Scholar Cantalamessa L, Baldini M. Malattie della tiroide. In: Rugarli C (ed). [link.springer.com]

J-Am-Acad-Nurse-Pract. 2001 May; 13(5): 223-6; quiz 227-8 Schneider,-Robert-K; Robinson,-Michael-J; Levenson,-James-L Psychiatric presentations of non-HIV infectious diseases. [malattierare.regione.veneto.it]

Respiratoric

  • Aspiration

    Four children died before age 3 years from respiratory insufficiency or aspiration pneumonia. The three surviving patients manifested severe developmental delay. [pubmed.ncbi.nlm.nih.gov]

  • Pneumonia

    Four children died before age 3 years from respiratory insufficiency or aspiration pneumonia. The three surviving patients manifested severe developmental delay. [pubmed.ncbi.nlm.nih.gov]

Treatment

CrossRef PubMed Google Scholar Shawcross D, Jalan R Dispelling myths in the treatment of hepatic encephalopathy Lancet 2005; 365: 431–433. PubMed Google Scholar [link.springer.com]

N-Engl-J-Med. 2001 Nov 8; 345(19): 1424-5 Donta,-S-T Treatment of patients with persistent symptoms and a history of Lyme disease. [malattierare.regione.veneto.it]

Interestingly, both of these alterations in PWS seem to be ameliorated on GH treatment. CONCLUSION: Herein, we report adipose tissue dysfunctions in children with PWS which may be partially restored by GH treatment. [searchworks-lb.stanford.edu]

Guillain–Barré syndrome: pathogenesis, diagnosis, treatment and prognosis. Nature Reviews Neurology, vol 10. doi:10.1038/nrneurol.2014.121. Available online at http://www.nature.com/nrneurol/journal/v10/n8/full/nrneurol.2014.121.html. [labtestsonline.it]

Prognosis

Guillain–Barré syndrome: pathogenesis, diagnosis, treatment and prognosis. Nature Reviews Neurology, vol 10. doi:10.1038/nrneurol.2014.121. Available online at http://www.nature.com/nrneurol/journal/v10/n8/full/nrneurol.2014.121.html. [labtestsonline.it]

Etiology

Dementia in patients undergong long-term dialysis: etiology, differential diagnoses, epidemiology and management. CNS Drugs 2001; 15:691–99 CrossRef CAS PubMed Google Scholar Hyponatremia. N Engl J Med 2000; 342:1581–1589. [link.springer.com]

Epidemiology

Hashimoto’s encephalopathy: epidemiologic data and pathogenetic considerations. J Neurol Sci 2004; 217(2):165–168. CrossRef PubMed Google Scholar Ferracci F, Moretto G, Candeago RM et al. [link.springer.com]

JAMA. 2002 Mar 13; 287(10): 1259-60 Piacentino,-J-D; Schwartz,-B-S Occupational risk of Lyme disease: an epidemiological review. [malattierare.regione.veneto.it]

Subjects Genetics, Génétique, Hygiene and public health, epidemiology, occupational medicine, Hygiène et santé publique, épidémiologie, médecine du travail, Sciences biologiques et medicales, Biological and medical sciences, Sciences medicales, Medical [searchworks-lb.stanford.edu]

Pathophysiology

PMID: 21211919 Uremic neuropathy: clinical features and new pathophysiological insights. Krishnan AV, Kiernan MC. Krishnan AV, et al. Muscle Nerve. 2007 Mar;35(3):273-90. doi: 10.1002/mus.20713. Muscle Nerve. 2007. PMID: 17195171 Review. [pubmed.ncbi.nlm.nih.gov]

Prevention

Centers for Disease Control and Prevention. Available online at https://www.cdc.gov/flu/prevent/guillainbarre.htm. Accessed on 8/20/19. (October 2, 2017) Guillain-Barre Syndrome. Centers for Disease Control and Prevention. [labtestsonline.it]

Health-News. 2001 May; 7(5): 6 Meyerhoff,-John Single-dose doxycycline prevented Lyme disease after an Ixodes scapularis tick bite. [malattierare.regione.veneto.it]

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