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• W2112793616 abstract "Familial dysautonomia, or Riley-Day syndrome, is an inherited autosomal recessive disorder characterized by a defect in both autonomic and certain sensory nerves (1Slaugenhaupt S.A. Gusella J.F. Familial dysautonomia.Curr Opin Genet Dev. 2002; 12: 307-311Crossref PubMed Scopus (59) Google Scholar, 2Axelrod F.B. Maayan C.H. Familial dysautonomia.in: Chernick V. Boat T.F. Kendig's Disorders of the Respiratory Tract in Children. 6th ed. W. B. Saunders, Philadelphia, Pennsylvania1998: 1103-1106Google Scholar, 3Axelrod F.B. Hilz M.J. Familial dysautonomia.in: Appenzeller O. Handbook of Clinical Neurology. Vol. 75. The Autonomic Nervous System, Part II. Dysfunctions. Elsevier Science, London, United Kingdom2000: 143-160Google Scholar, 4Axelrod F.B. Familial Dysautonomia. Manual of Comprehensive Care. Dysautonomia Treatment and Evaluation Center, New York, New York1997Google Scholar, 5Brunt P.W. McKusick V.A. Familial dysautonomia. A report of genetic and clinical studies with a review of the literature.Medicine. 1970; 49: 343-352Crossref PubMed Scopus (161) Google Scholar). It is estimated that 1 in 30 persons of Eastern European Jewish ancestry is a carrier of the gene for familial dysautonomia (3Axelrod F.B. Hilz M.J. Familial dysautonomia.in: Appenzeller O. Handbook of Clinical Neurology. Vol. 75. The Autonomic Nervous System, Part II. Dysfunctions. Elsevier Science, London, United Kingdom2000: 143-160Google Scholar, 4Axelrod F.B. Familial Dysautonomia. Manual of Comprehensive Care. Dysautonomia Treatment and Evaluation Center, New York, New York1997Google Scholar, 5Brunt P.W. McKusick V.A. Familial dysautonomia. A report of genetic and clinical studies with a review of the literature.Medicine. 1970; 49: 343-352Crossref PubMed Scopus (161) Google Scholar). The disorder is caused by a mutation in the IKBKAP gene located on chromosome 9q31, which results in incomplete development of peripheral unmyelinated and small myelinated neuronal fibers, as well as decreased numbers of neurons in the spinal cord and in sensory and autonomic ganglia (1Slaugenhaupt S.A. Gusella J.F. Familial dysautonomia.Curr Opin Genet Dev. 2002; 12: 307-311Crossref PubMed Scopus (59) Google Scholar, 3Axelrod F.B. Hilz M.J. Familial dysautonomia.in: Appenzeller O. Handbook of Clinical Neurology. Vol. 75. The Autonomic Nervous System, Part II. Dysfunctions. Elsevier Science, London, United Kingdom2000: 143-160Google Scholar, 5Brunt P.W. McKusick V.A. Familial dysautonomia. A report of genetic and clinical studies with a review of the literature.Medicine. 1970; 49: 343-352Crossref PubMed Scopus (161) Google Scholar). The clinical manifestations include diminished pain, heat, and taste sensation; impaired temperature and blood pressure regulation; impaired sweating and lacrimation; and gastrointestinal dysfunction (1Slaugenhaupt S.A. Gusella J.F. Familial dysautonomia.Curr Opin Genet Dev. 2002; 12: 307-311Crossref PubMed Scopus (59) Google Scholar, 3Axelrod F.B. Hilz M.J. Familial dysautonomia.in: Appenzeller O. Handbook of Clinical Neurology. Vol. 75. The Autonomic Nervous System, Part II. Dysfunctions. Elsevier Science, London, United Kingdom2000: 143-160Google Scholar, 4Axelrod F.B. Familial Dysautonomia. Manual of Comprehensive Care. Dysautonomia Treatment and Evaluation Center, New York, New York1997Google Scholar, 5Brunt P.W. McKusick V.A. Familial dysautonomia. A report of genetic and clinical studies with a review of the literature.Medicine. 1970; 49: 343-352Crossref PubMed Scopus (161) Google Scholar). The clinical manifestations of infectious processes in patients with familial dysautonomia can manifest silently or have atypical clinical presentations owing to abnormal neuroregulation. Herein, we describe a patient with familial dysautonomia who presented with an autonomic crisis precipitated by a dental abscess that extended to cause maxillary osteomyelitis. A 32-year-old woman presented with a 3-day history of retching, irritability, lightheadedness, and 39oC fevers. She was diagnosed with familial dysautonomia at the age of 1 year. Her blood pressure and pulse were extremely labile. Severe kyphoscoliosis was present. Her mood was unpredictable and she was prone to emotional outbursts. Blood cultures grew methicillin-susceptible Staphylococcus aureus. A transesophageal echocardiogram failed to show any evidence of endocarditis. Because of the suggestion of a dental abscess on a panorex study, a technetium bone scan (Figure) was performed, revealing maxillary osteomyelitis. She was treated successfully with aggressive hydration, surgical drainage, and intravenous nafcillin. Patients with familial dysautonomia are not at a particularly increased risk of infectious diseases. However, when these patients develop an infectious process, they may not have the usual symptoms of infection (3Axelrod F.B. Hilz M.J. Familial dysautonomia.in: Appenzeller O. Handbook of Clinical Neurology. Vol. 75. The Autonomic Nervous System, Part II. Dysfunctions. Elsevier Science, London, United Kingdom2000: 143-160Google Scholar, 4Axelrod F.B. Familial Dysautonomia. Manual of Comprehensive Care. Dysautonomia Treatment and Evaluation Center, New York, New York1997Google Scholar). Some infections may be silent and only manifest as fever or by a dysautonomic crisis. Fever should alert the physician about the possibility of infection, specifically if the fever persists for more than 24 hours. When the cause of fever is not obvious, it is imperative to rule out the possibility of an infectious process (3Axelrod F.B. Hilz M.J. Familial dysautonomia.in: Appenzeller O. Handbook of Clinical Neurology. Vol. 75. The Autonomic Nervous System, Part II. Dysfunctions. Elsevier Science, London, United Kingdom2000: 143-160Google Scholar, 4Axelrod F.B. Familial Dysautonomia. Manual of Comprehensive Care. Dysautonomia Treatment and Evaluation Center, New York, New York1997Google Scholar). Patients frequently develop recurrent aspiration pneumonitis (3Axelrod F.B. Hilz M.J. Familial dysautonomia.in: Appenzeller O. Handbook of Clinical Neurology. Vol. 75. The Autonomic Nervous System, Part II. Dysfunctions. Elsevier Science, London, United Kingdom2000: 143-160Google Scholar, 4Axelrod F.B. Familial Dysautonomia. Manual of Comprehensive Care. Dysautonomia Treatment and Evaluation Center, New York, New York1997Google Scholar, 5Brunt P.W. McKusick V.A. Familial dysautonomia. A report of genetic and clinical studies with a review of the literature.Medicine. 1970; 49: 343-352Crossref PubMed Scopus (161) Google Scholar). In a review of 136 patients, aspiration pneumonitis was the cause of death in 28% (6Bar-on E. Floman Y. Sagiv S. et al.Orthopedic manifestations of familial dysautonomia a review of one hundred and thirty-six patients.J Bone Joint Surg Am. 2000; 82: 1563-1570PubMed Google Scholar). Clinical signs of pneumonia may be subtle. Insensitivity to hypoxia results in lack of tachypnea. Cough is not always present and is rarely productive. Auscultation may be unrevealing because of decreased chest excursion (1Slaugenhaupt S.A. Gusella J.F. Familial dysautonomia.Curr Opin Genet Dev. 2002; 12: 307-311Crossref PubMed Scopus (59) Google Scholar, 2Axelrod F.B. Maayan C.H. Familial dysautonomia.in: Chernick V. Boat T.F. Kendig's Disorders of the Respiratory Tract in Children. 6th ed. W. B. Saunders, Philadelphia, Pennsylvania1998: 1103-1106Google Scholar, 3Axelrod F.B. Hilz M.J. Familial dysautonomia.in: Appenzeller O. Handbook of Clinical Neurology. Vol. 75. The Autonomic Nervous System, Part II. Dysfunctions. Elsevier Science, London, United Kingdom2000: 143-160Google Scholar, 4Axelrod F.B. Familial Dysautonomia. Manual of Comprehensive Care. Dysautonomia Treatment and Evaluation Center, New York, New York1997Google Scholar). Early placement of a gastrostomy tube prevents aspiration (3Axelrod F.B. Hilz M.J. Familial dysautonomia.in: Appenzeller O. Handbook of Clinical Neurology. Vol. 75. The Autonomic Nervous System, Part II. Dysfunctions. Elsevier Science, London, United Kingdom2000: 143-160Google Scholar, 4Axelrod F.B. Familial Dysautonomia. Manual of Comprehensive Care. Dysautonomia Treatment and Evaluation Center, New York, New York1997Google Scholar, 7Mass E. Sarnat H. Ram D. Gadoth N. Dental and oral findings in patients with familial dysautonomia.Oral Surg Oral Med Oral Pathol. 1992; 74: 305-311Abstract Full Text PDF PubMed Scopus (18) Google Scholar). Gum disease is also common (3Axelrod F.B. Hilz M.J. Familial dysautonomia.in: Appenzeller O. Handbook of Clinical Neurology. Vol. 75. The Autonomic Nervous System, Part II. Dysfunctions. Elsevier Science, London, United Kingdom2000: 143-160Google Scholar, 4Axelrod F.B. Familial Dysautonomia. Manual of Comprehensive Care. Dysautonomia Treatment and Evaluation Center, New York, New York1997Google Scholar, 7Mass E. Sarnat H. Ram D. Gadoth N. Dental and oral findings in patients with familial dysautonomia.Oral Surg Oral Med Oral Pathol. 1992; 74: 305-311Abstract Full Text PDF PubMed Scopus (18) Google Scholar). In addition, in the absence of fungiform papillae, malocclusion in the form of crowding can cause dental trauma and eventually lead to the formation of dental abscesses, as was observed in our patient (5Brunt P.W. McKusick V.A. Familial dysautonomia. A report of genetic and clinical studies with a review of the literature.Medicine. 1970; 49: 343-352Crossref PubMed Scopus (161) Google Scholar, 7Mass E. Sarnat H. Ram D. Gadoth N. Dental and oral findings in patients with familial dysautonomia.Oral Surg Oral Med Oral Pathol. 1992; 74: 305-311Abstract Full Text PDF PubMed Scopus (18) Google Scholar). Early reports suggested that the occurrence of osteomyelitis was associated with spinal deformities and Charcot joints (8Hayek S. Laplaza F.J. Axelrod F.B. et al.Spinal deformity in familial dysautonomia. Prevalence and results of bracing.J Bone Joint Surg Am. 2000; 82: 1558-1562Crossref PubMed Scopus (27) Google Scholar, 9Klebanoff M.A. Neff J.M. Familial dysautonomia associated with recurrent osteomyelitis in a non-Jewish girl.J Pediatr. 1980; 96: 75-77Abstract Full Text PDF PubMed Scopus (14) Google Scholar). However, there is no evidence that osteomyelitis occurs more frequently in patients with familial dysautonomia (2Axelrod F.B. Maayan C.H. Familial dysautonomia.in: Chernick V. Boat T.F. Kendig's Disorders of the Respiratory Tract in Children. 6th ed. W. B. Saunders, Philadelphia, Pennsylvania1998: 1103-1106Google Scholar, 3Axelrod F.B. Hilz M.J. Familial dysautonomia.in: Appenzeller O. Handbook of Clinical Neurology. Vol. 75. The Autonomic Nervous System, Part II. Dysfunctions. Elsevier Science, London, United Kingdom2000: 143-160Google Scholar, 4Axelrod F.B. Familial Dysautonomia. Manual of Comprehensive Care. Dysautonomia Treatment and Evaluation Center, New York, New York1997Google Scholar, 5Brunt P.W. McKusick V.A. Familial dysautonomia. A report of genetic and clinical studies with a review of the literature.Medicine. 1970; 49: 343-352Crossref PubMed Scopus (161) Google Scholar). In our patient, osteomyelitis was associated with atypical features. Because patients with familial dysautonomia are deficient in type C fibers, the disorder has also been associated with decreased rates of herpes simplex virus and varicella-zoster virus infection, and milder clinical manifestations (10Maayan C. Nimrod A. Morag A. et al.Herpes simplex virus-1 and varicella virus infections in familial dysautonomia patients.J Med Virol. 1998; 54: 158-161Crossref PubMed Scopus (2) Google Scholar). In summary, because many patients with familial dysautonomia are surviving into adulthood, it is useful for clinicians to have knowledge of the disease and the atypical clinical manifestations of infectious processes." @default.
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