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Family history of drowning
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neurofibromatosis 2
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  • Mentions drowning problems in NF2. [101]
  • Note the term "vestibular schwannoma" is now preferred over "acoustic neuroma." [102]
  • Proprioceptive blindness in a patient with progressive multifocal leukoencephalopathy. [103]
  • Estimates that 50% of NF2 cases are new mutations. [105]
  • Incidence of NF2 is 1 in 37,000. Expands criteria for diagnosis in persons without a family history. [106]
  • Refers to a study finding 22-fold increase in arrhythmias in young healthy scuba divers when submerged. Postulates that pressure-induced central movement of blood dilates cardiac chambers, right-sided especially. Cites Publication 72 of the Undersea and Hyperbaric Medical Society, 1987. [113]
  • Long QT syndrome? [114]
  • A half-page discussion of syncope under water: Ross RT, Major Problems in Neurology, ca. 1988 [115]
  • Sickle cell crises can be precipitated by cold water [L Resar, American Pediatric Society/Society for Pediatric Research annual meeting, May 1990] [116]
  • Cold urticaria and/or cold anaphylaxis can get swimmers in trouble. [117]
    Footnotes in Print Edition[Top] [Nav]
    (1) See the 1980 Kanter & Eldridge article in Neurology, listed below.
    (2) Neurofibromatosis: Phenotype, Natural History, and Pathogenesis.
  Riccardi VM, Eichner JE. Baltimore: Johns Hopkins University Press, 1986: 169-183.   Amazon.com
    (3a) The genetic aspects of neurofibromatosis.
  Carey JC, Baty BJ, et al.   Ann N Y Acad Sci 1986;486:45-56.  Pubmed+Abstract  Similars
    (3b) McKusick 101000 = neurofibromatosis 2.
    (4) Neurofibromatosis 2 (bilateral acoustic neurofibromatosis).
  Martuza RL, Eldridge R.   N Engl J Med 1988 Mar 17;318(11):684-8.  Pubmed  Similars
    (-) The Man Who Mistook his Wife for a Hat and Other Clinical Tales.
  Sacks O. New York: Summit Books, 1985: 42-52.
    New References[Top] [Nav]

Proprioception
    101.Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis.
  Kanter WR, Eldridge R, et al.   Neurology 1980 Aug;30(8):851-9.  Pubmed+Abstract  Similars
    102.Vestibular schwannoma (acoustic neuroma). Consensus development conference [see comments].
  Eldridge R, Parry D.   Neurosurgery 1992 Jun;30(6):962-4.  Pubmed  Similars
    103.Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 45-1988. A 67-year-old woman with chronic lymphocytic leukemia, homonymous hemianopia, confusion, and poor balance.
  N Engl J Med 1988 Nov 10;319(19):1268-80.  Pubmed  Similars

NF2
    104.Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity.
  Parry DM, Eldridge R, et al.   Am J Med Genet 1994 Oct 1;52(4):450-61.  Pubmed+Abstract  Similars
    105.Neurofibromatosis type 2 appears to be a genetically homogeneous disease.
  Narod SA, Parry DM, et al.   Am J Hum Genet 1992 Sep;51(3):486-96.  Pubmed+Abstract  Similars
    106.Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity.
  Parry DM, Eldridge R, et al.   Am J Med Genet 1994 Oct 1;52(4):450-61.  Pubmed+Abstract  Similars
    107.Neurofibromatosis: Phenotype, Natural History, and Pathogenesis. 2nd ed.
  Riccardi VM. Baltimore: Johns Hopkins University Press, 1992.   Amazon.com
    108.The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2 [see comments].
  Gutmann DH, Aylsworth A, et al.   JAMA 1997 Jul 2;278(1):51-7.  Pubmed+Abstract  Similars
    109.The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.
  Eng C, Clayton D, et al.   JAMA 1996 Nov 20;276(19):1575-9.  Pubmed+Abstract  Similars
    110.NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update.
  Mulvihill JJ, Parry DM, et al.   Ann Intern Med 1990 Jul 1;113(1):39-52.  Pubmed+Abstract  Similars
    111.Lens opacities in neurofibromatosis 2: further significant correlations.
  Bouzas EA, Freidlin V, et al.   Br J Ophthalmol 1993 Jun;77(6):354-7.  Pubmed+Abstract  Similars
    112.Visual impairment in patients with neurofibromatosis 2.
  Bouzas EA, Parry DM, et al.   Neurology 1993 Mar;43(3 Pt 1):622-3.  Pubmed  Similars

Other heritable medical causes of underwater mishaps
    113.The Medical Problems of Underwater Diving [letter].
  McDonough JR, et al.   N Engl J Med. 1992;326:1498.
    114.Long QT syndrome?
    115.A half-page discussion of syncope under water: Ross RT, Major Problems in Neurology, ca. 1988
    116.Sickle cell crises can be precipitated by cold water [L Resar, American Pediatric Society/Society for Pediatric Research annual meeting, May 1990]
    117.Drowning [letter; comment].
  Morris RJ, Schoenwetter WF.   N Engl J Med 1993 Jul 1;329(1):64-5.  Pubmed  Similars
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    ©1986-2000 John Sotos, MD. All rights reserved.  Last updated 16:34 PDT on July 4, 2000.[Top]

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