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Cutaneous Manifestations of Ataxia -Telangiectasia FREE

William B. Reed, MD; William L. Epstein, MD; Elena Boder, MD; Robert Sedgwick, MD
[+] Author Affiliations

The Ataxia-Telangectasia Contributions are available as a single reprint. Address requests to JAMA Reprint Service, 535 N Dearborn St, Chicago 60610.


From the Division of Dermatology, Department of Medicine, University of California Medical Center, San Francisco (Dr. Epstein), and the departments of pediatrics and neurology, University of Southern California School of Medicine, Los Angeles (Drs. Boder and Sedwick).


JAMA. 1966;195(9):746-753. doi:10.1001/jama.1966.03100090080018
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Although the cutaneous aspects of ataxia-telangiectasia (AT) are emphasized in the name, there have been no extensive clinical and histopathological studies of the skin of these patients. The immunologic deficiencies and the minimal thymic activity was first noted by Peterson, Kelly, and Good56 and confirmed by others.27,30,65,77 We wish to report the dermatological findings in 22 patients with AT (Table 1). Four of these patients were previously reported in detail by Boder and Sedgwick12,14 and one by Centerwall and Miller.22

Cardinal Features  The cardinal features of AT are progressive cerebellar ataxia beginning in infancy, progressive telangiectasia beginning on the exposed bulbar conjunctiva, tendency to sinopulmonary infections leading to bronchiectasis, apraxia of eye movements simulating ophthalmoplegia, and high familial incidence.Other less striking features are unusual facial and postural attitudes, variable choreoathetoid or ticlike movements, occasional myoclonic jerks, cerebellar speech, drooling, internal strabismus, and growth retardation. Although

REFERENCES

Aldrich, R.A.; Steinberg, A.G.; and Campbell, D.C.:  Pedigree Demonstrating Sex-Linked Recessive Condition Characterized by Draining Ears, Eczematoid Dermatitis and Bloody Diarrhea , Pediatrics 13:133-138 ( (Feb) ) 1954;.
Alström, C.H.: Heredo-retinopathia congenita monohybrida recessiva autosomalis , Lund, Sweden: Berlingska Boktryckerier, 1957;.
Ammann, F., and Marty, F.:  Une famille Valaisanne avec plusieurs branches atteintes de formes différentes de dégénérescence tapétorétinienne remontant au même couple ancestral , J Genet Hum 11:221, 1962;.
Artenstein, M.S.; Bellanti, J.A.; and Buescher, E.L.:  Identification of the Antiviral Substances in Nasal Secretions , Proc Soc Exp Biol Med 117:558-564, 1964;.
Auerbach, R.:  Developmental Studies on Mouse Thymus and Spleen , Nat Cancer Inst Monogr 11:23-33,1963;.
Baron, D.N., et al:  Hereditary Pellagra-like Skin Rash With Temporary Cerebellar Ataxia, Constant Amino-aciduria, and Other Bizarre Biochemical Features , Lancet 2:421-428 ( (Sept 1) ) 1956;.
Bellanti, J.A.; Artenstein, M.S.; and Buescher, E.L.:  Characterization of Virus Neutralizing Antibodies in Human Serum and Nasal Secretions , J Immunol , to be published.
Bellanti, J.A.; Artenstein, M.S.; and Buescher, E.L.:  Ataxiatelangiectasia: Immunologic and Virologic Studies of Serum and Respiratory Secretions , Pediatrics , to be published.
Biemond, A., and Bolhuis, J.H.:  Atrophia cerebelli met oculo-cutane telangiectasieen en bronchiectasieen als familiaal syndroom , Nederl T Geneesk 103:2253-2258, 1959;.
Biemond, A.:  Palaeocerebellar Atrophy With Extrapyramidal Manifestations in Association With Bronchiectasis and Telangiectasis of the Conjunctiva Bulbi as a Familial Syndrome , read before the First International Congress of Neurological Sciences, Brussels, July, 1957 .
Bloom, D.:  Congenital Telangiectatic Erythema Resembling Lupus Erythematosus in Dwarfs: Probably a Syndrome Entity , Amer J Dis Child 88:754-758 ( (Dec) ) 1958;.
Boder, E., and Sedgwick, R.P.:  Ataxia-Telangiectasia: A Familial Syndrome of Progressive Cerebellar Ataxia, Oculocutaneous Telangiectasia and Frequent Pulmonary Infection , Pediatrics 21:526-554 ( (April) ) 1958;.
Boder, E., and Sedwick, R.P.:  Ataxia-Telangiectasia: A Review of 110 Cases , Little Club Clin Dev Med , to be published.
Boder, E., and Sedgwick, R.P.:  Ataxia-Telangiectasia: A Familial Syndrome of Progressive Cerebellar Ataxia, Oculocutaneous Telangiectasia and Frequent Pulmonary Infection , Univ Southern Calif Med Bull 9:15-28 ( (spring) ) 1957;.
Boder, E., and Sedgwick, R.P.:  Ataxia-Telangiectasia: A Review of 110 Cases , Little Club Clin Develop Med 8:110-118, 1963;.
Boder, E., and Sedgwick, R.P.:  Ataxia-Telangiectasia: A Review of 150 Cases , read before the International Copenhagen Congress on the Scientific Study of Mental Retardation, Copenhagen, Aug 7-14,1964 .
Boder, E., and Sedgwick, R.P.:  Ataxia-Telangiectasia: A Familial Syndrome of Progressive Cerebellar Ataxia, Oculocutaneous Telangiectasia, and Frequent Pulmonary Infection , Arch Derm 78:402-405 ( (Sept) ) 1958;.
Bowden, D.H.; Danis, P.G.; and Sommers, S.C.:  Ataxia-Telangiectasia: A Case With Lesions of Ovaries and Adenohypophysis , J Neuropath Exp Neurol 22:549-554 ( (July) ) 1963;.
Brandt, S.:  Cefalo-Oculo-Cutane Teleangiectasie (Louis Bar Syndrome): Progressive ataxi, demens, chronisk bronchitis og vasculaere forandriger hos en 13-arig dreng , Nord Med 62:1519-1521 ( (Oct 15) ) 1959;.
Burke, E.C.; Brown, A.L.; and Weed, L.A.:  Pneumocystis carinii Pneumonia: Report of Case in Infant With Hypogammaglobulinemia , Proc Mayo Clin 37:129-136,1962;.
Burke, B.A.; Korvetz, L.J.; and Good, R.A.:  Occurrence of Pneumocystis carinii Pneumonia in Children With Agammaglobulinemia , Pediatrics 28:196-205,1961;.
Centerwall, W.R., and Miller, M.M.:  Ataxia, Telangiectasia, and Sino-pulmonary Infections: Syndrome of Slowly Progressive Deterioration in Childhood , Amer J Dis Child 95:385-396 ( (April) ) 1958;.
 Committee on Nomenclature of Human Immunogloblins , Bull WHO 30:447-450,1964;.
Cooper, M.D., et al:  Immunological Defect in Wiskott-Aldrich Syndrome Patients , read before the 74th annual meeting of the American Pediatric Society, Seattle, June 16-18, 1964 .
Crowe, F.W.; Schull, W.J.; and Neel, J.V.: Multiple Neurofibromatosis , Springfield: Charles C Thomas, Publisher, 1956;.
Dunn, H.G., et al:  Ataxia-Telangiectasia , Canad Med Assoc J 91:1106-1118 ( (Nov 21) ) 1964;.
Eisen, A.H., et al:  Immunologic Deficiency in Ataxia-Telangiectasia , New Eng J Med 272:18-22 ( (Jan 7) ) 1965;.
Eisen, A.H.:  Delayed Hypersensitivity in Ataxia-Telangiectasia , New Eng J Med 272:801 ( (April 15) ) 1965;.
Epstein, W.L., and Klingman, A.M.:  The Interference Phenomenon in Allergic Contact Dermatitis , J Invest Derm 31: 103-108 ( (Aug) ) 1958;.
Fireman, P.; Boesman, M.; and Gitlin, D.:  Ataxia-Telangiectasia: A Dysgammaglobulinemia With Deficient γ1A (β2A)globulin , Lancet 1:1193-1195 ( (May 30) ) 1964;.
Good, R.A., et al:  Agammaglobulinemia, Hypogammaglobulinemia, Hodgkin's Disease, and Sarcoidosis , Progr Allerg 6:187-319,1962;.
Gorlin, R., and Pindborg, J.: Syndromes of the Head and Neck , New York: McGraw-Hill Book Co., Inc., 1964;.
Gutmann, L., and Lemli, L.:  Ataxia-Telangiectasia Associated With Hypogammaglobulinemia , Arch Neurol 8:318-327 ( (March) ) 1963;.
Halvorsen, K., and Halvorsen, S.:  Hartnup Disease , Pediatrics 31:29-38 ( (Jan) ) 1963;.
Hansen, E.:  Ataxia-Telangiectasia: Six Cases , Acta Neurol Scand 38:188-194 ( (June) ) 1962;.
Hitzig, W.H., and Willi, H.:  Hereditäre lympho-plasmocytäre Dysgenesie ("Alymphocytose mit Agammaglobulinämie") , Schweiz Med Wschr 91:1625-1633 ( (Dec) ) 1961;.
Jungo, O.; Glauser, P.; and Köng, E.:  Die chronische progressive cerebelläre Ataxie mit Teleangiektasien (Syndrom von Louis-Bar) , Helvet Paediat Acta 18:280-305 ( (Nov) ) 1963;.
Kansky, A., and Franzot, J.:  Werner's Syndrome , Acta Dermatovener 43:441-450, 1963;.
Karpati, G., et al:  Ataxia-Telangiectasia: Further Observations and Report of Eight Cases , Amer J Dis Child 110:51-63 ( (July) ) 1965;.
Livingstone, C.S.:  Pneumocystis Pneumonia Occurring in a Family With Agammaglobulinemia , Canad Med Assoc J 90:1223-1225,1964;.
Louis-Bar, D.:  Sur un syndrôme progressif comprenant des télangiectasies capillaires cutanées et conjonctivale symétriques, à disposition naevoïde et des troubles cérébelleux , Confin Neurol 4:32-42, 1941;.
Macdonald, W.B.; Fitch, K.D.; and Lewis, I.C.:  Cockayne's Disease: An Heredo-Familial Disorder of Growth and Development , Pediatrics 25:997-1007 ( (June) ) 1960;.
Matthes, A.:  Cerebello-Oculo-Cutane Telangicktasien (Louis-Barsche Krankheit): Eine seltene Phakomatose des Kindersalters , Z Kinderheilk 82:292-300 ( (Feb) ) 1959;.
McKusick, V.A., et al:  Dwarfism in the Amish: I. The Ellisvan Creveld Syndrome , Bull Hopkins Hosp 115:305-336, 1964;.
McKusick, V.A., et al:  Dwarfism in the Amish: II. Cartilage-Hair Hypoplasia , Bull Hopkins Hosp 116:284-326, 1965;.
McKusick, V.A.; Hostetler, J.A.; and Egeland, J.A.:  Genetic Studies of the Amish , Bull Hopkins Hosp 115:203-222, 1964;.
McKusick, V.A., et al:  Hydrometrocolpos as a Simply Inherited Malformation , JAMA 189:813-816 ( (Sept 14) ) 1964;.
Musgr, A.:  Wass sind Phakomatosen? Hautarzt 15:151-156 ( (April) ) 1964;.
Nickel, W.R., and Reed, W.B.:  Tuberous Sclerosis , Arch Derm 85:209-226 ( (Feb) ) 1962;.
Norman, R.M.:  "Observations on the Neuropathology of Cerebellar Disease in Early Life," in Geoffrey Walsh (ed): Cerebellum, Posture, and Cerebral Palsy , Little Club Clin Develop Med 8:49, 1963;.
Osetowska, E., and Tracznyska, H.:  Sur l'ataxie avec telangiectasie, une observation anatomoclinique , Acta Neuropath 3:319-325,1964;.
Paddison, R.M., et al:  Cockayne's Syndrome , Derm Trop 2:195-203 ( (Oct) -Dec) 1963;.
Paine, R.S., and Efron, M.L.:  Atypical Variants of the "Ataxia-Telangiectasia" Syndrome , Develop Med Child Neurol 5:14-23 ( (Feb) ) 1963;.
Perez Soles, A., and Espadaler, J.M.:  Ataxia-Telangiectasia , Rev Esp Otoneurooftal 23:166-178 ( (May) -June) 1964;.
Pfändler, U.:  Une forme semiletale de la surdimutite recessive dans differentes populations de la Suisse orientale , Bull Schweiz Akad Med Wiss 16:255-277,1960;.
Peterson, R.D.A.; Kelley, W.D.; and Good, R.A.:  Ataxia-Telangiectasia: Its Association With a Defective Thymus, Immunological Deficiency Disease, and Malignancy , Lancet 1:1189-1193 ( (May 30) ) 1964;.
Peterson, R.D.A; Cooper, M.D.; and Good, R.A.:  The Pathogenesis of Immunologic Deficiency Diseases , Amer J Med 38:579-604, 1965;.
Peterson, R.D.A.; Blau, M.; and Good, R.A.:  Ataxia-Telangiectasia , J Pediat 63:701, 1963;.
Reed, W.B.; Pidgeon, J.; and Becker, S.W.:  Patients With Spinal Cord Injury: Clinical Cutaneous Studies , Arch Derm 83: 379-385 ( (March) ) 1961;.
Reed, W.B.; May, S,B,; and Nickel, W.R.:  Zeroderma Pigmentosum With Neurological Complications , Arch Derm 91:224-226 ( (March) ) 1965;.
Renda, Y.:  Ataxia-Telangiectasia . Turk J Pediat 6:16-21 ( (Jan) ) 1964;.
Reye, C.:  Ataxia-Telangiectasia: Report of a Case , Amer J Dis Child 99:238-241 ( (Feb) ) 1960;.
Rook, A., and Whimster, I.:  Congenital Cutaneous Dystrophy (Thomson's Type) , Brit J Derm 61:197-207 ( (June) ) 1949;.
Rosen, F.S.; Gitlin, D.; and Janeway, C.A.:  Alymphocytosis, Agammaglobulinaemia, Homografts, and Delayed Hypersensitivity: Study of a Case , Lancet 2:380-381,1962;.
Rosenthal, I.R.; Markowitz, A.S.; and Medenis, R.:  Immunologic Incompetence in Ataxia-Telangiectasia , Amer J Dis Child 110:69-75 ( (July) ) 1965;.
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St. Geme, J.W., Jr., et al:  Impaired Cellular Resistance to Herpes Simplex Virus in Wiskott-Aldrich Syndrome , New Eng J Med 273:229-234 ( (July 29) ) 1965;.
Syllaba, L., and Henner, K.:  Contribution a l'indépendance de l'athétose double idiopathique et congenital atteinte famiale, syndrome dystrophique, signe du reseau vasculaire conjonctival intégrité psychique , Rev Neurol 15:541-562 ( (May) ) 1926;.
Tadjoedin, M.K., and Fraser, F.C.:  Heredity of Ataxia-Telangiectasia (Louis-Bar Syndrome) , Amer J. Dis Child 110:6468 ( (July) ) 1965;.
Thieffry, S., et al:  L'ataxie-telangiectasie , Rev Neurol 105: 390-405 ( (Nov) ) 1961;.
Tobler, R., and Cottier, H.:  Familiäre Lymphopenie mit Agammaglobulinämie und schwerer Moniliasis , Helv Paediat Acta 13:313-338, 1958;.
Utian, H.L., and Plit, J.:  Ataxia-Telangiectasia , J Neurol Neurosurg Psychiat 27:38-30 ( (Feb) ) 1964;.
van der Hoeve, J.:  Eye Symptoms in Phakomatoses , Trans Ophthal Soc UK 52:380-401,1932;.
Walshe, J.M.:  Wilson's Disease: The Presenting Symptoms , Arch Dis Child 37:253-256,1962;.
Wells, C.E., and Shy, G.M.:  Progressive Familial Choreoathetosis With Oculocutaneous Telangiectasia , J Neurol Neurosurg Psychiat 20:98-104 ( (May) ) 1957;.
Williams, H.E.: Demis, D.J.; and Higdon, R.S.:  AtaxiaTelangiectasia: A Syndrome With Characteristic Cutaneous Manifestations , Arch Derm 82:927-942 ( (Dec) ) 1960;.
Young, R.R.; Austen, K.F.; and Moser, H.W.:  Abnormalities of Serum Gamma-1A-Globulin and Ataxia-Telangiectasis , Medicine 43:423-433 ( (May) ) 1964;.
Epstein, W.L.; et al:  Immunologic Studies of Ataxia-Telangiectasia: I. Delayed Hypersensitivity and Immune Globulin Levels in Probands and First-Degree Relatives , Int Arch Allerg , to be published.

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Aldrich, R.A.; Steinberg, A.G.; and Campbell, D.C.:  Pedigree Demonstrating Sex-Linked Recessive Condition Characterized by Draining Ears, Eczematoid Dermatitis and Bloody Diarrhea , Pediatrics 13:133-138 ( (Feb) ) 1954;.
Alström, C.H.: Heredo-retinopathia congenita monohybrida recessiva autosomalis , Lund, Sweden: Berlingska Boktryckerier, 1957;.
Ammann, F., and Marty, F.:  Une famille Valaisanne avec plusieurs branches atteintes de formes différentes de dégénérescence tapétorétinienne remontant au même couple ancestral , J Genet Hum 11:221, 1962;.
Artenstein, M.S.; Bellanti, J.A.; and Buescher, E.L.:  Identification of the Antiviral Substances in Nasal Secretions , Proc Soc Exp Biol Med 117:558-564, 1964;.
Auerbach, R.:  Developmental Studies on Mouse Thymus and Spleen , Nat Cancer Inst Monogr 11:23-33,1963;.
Baron, D.N., et al:  Hereditary Pellagra-like Skin Rash With Temporary Cerebellar Ataxia, Constant Amino-aciduria, and Other Bizarre Biochemical Features , Lancet 2:421-428 ( (Sept 1) ) 1956;.
Bellanti, J.A.; Artenstein, M.S.; and Buescher, E.L.:  Characterization of Virus Neutralizing Antibodies in Human Serum and Nasal Secretions , J Immunol , to be published.
Bellanti, J.A.; Artenstein, M.S.; and Buescher, E.L.:  Ataxiatelangiectasia: Immunologic and Virologic Studies of Serum and Respiratory Secretions , Pediatrics , to be published.
Biemond, A., and Bolhuis, J.H.:  Atrophia cerebelli met oculo-cutane telangiectasieen en bronchiectasieen als familiaal syndroom , Nederl T Geneesk 103:2253-2258, 1959;.
Biemond, A.:  Palaeocerebellar Atrophy With Extrapyramidal Manifestations in Association With Bronchiectasis and Telangiectasis of the Conjunctiva Bulbi as a Familial Syndrome , read before the First International Congress of Neurological Sciences, Brussels, July, 1957 .
Bloom, D.:  Congenital Telangiectatic Erythema Resembling Lupus Erythematosus in Dwarfs: Probably a Syndrome Entity , Amer J Dis Child 88:754-758 ( (Dec) ) 1958;.
Boder, E., and Sedgwick, R.P.:  Ataxia-Telangiectasia: A Familial Syndrome of Progressive Cerebellar Ataxia, Oculocutaneous Telangiectasia and Frequent Pulmonary Infection , Pediatrics 21:526-554 ( (April) ) 1958;.
Boder, E., and Sedwick, R.P.:  Ataxia-Telangiectasia: A Review of 110 Cases , Little Club Clin Dev Med , to be published.
Boder, E., and Sedgwick, R.P.:  Ataxia-Telangiectasia: A Familial Syndrome of Progressive Cerebellar Ataxia, Oculocutaneous Telangiectasia and Frequent Pulmonary Infection , Univ Southern Calif Med Bull 9:15-28 ( (spring) ) 1957;.
Boder, E., and Sedgwick, R.P.:  Ataxia-Telangiectasia: A Review of 110 Cases , Little Club Clin Develop Med 8:110-118, 1963;.
Boder, E., and Sedgwick, R.P.:  Ataxia-Telangiectasia: A Review of 150 Cases , read before the International Copenhagen Congress on the Scientific Study of Mental Retardation, Copenhagen, Aug 7-14,1964 .
Boder, E., and Sedgwick, R.P.:  Ataxia-Telangiectasia: A Familial Syndrome of Progressive Cerebellar Ataxia, Oculocutaneous Telangiectasia, and Frequent Pulmonary Infection , Arch Derm 78:402-405 ( (Sept) ) 1958;.
Bowden, D.H.; Danis, P.G.; and Sommers, S.C.:  Ataxia-Telangiectasia: A Case With Lesions of Ovaries and Adenohypophysis , J Neuropath Exp Neurol 22:549-554 ( (July) ) 1963;.
Brandt, S.:  Cefalo-Oculo-Cutane Teleangiectasie (Louis Bar Syndrome): Progressive ataxi, demens, chronisk bronchitis og vasculaere forandriger hos en 13-arig dreng , Nord Med 62:1519-1521 ( (Oct 15) ) 1959;.
Burke, E.C.; Brown, A.L.; and Weed, L.A.:  Pneumocystis carinii Pneumonia: Report of Case in Infant With Hypogammaglobulinemia , Proc Mayo Clin 37:129-136,1962;.
Burke, B.A.; Korvetz, L.J.; and Good, R.A.:  Occurrence of Pneumocystis carinii Pneumonia in Children With Agammaglobulinemia , Pediatrics 28:196-205,1961;.
Centerwall, W.R., and Miller, M.M.:  Ataxia, Telangiectasia, and Sino-pulmonary Infections: Syndrome of Slowly Progressive Deterioration in Childhood , Amer J Dis Child 95:385-396 ( (April) ) 1958;.
 Committee on Nomenclature of Human Immunogloblins , Bull WHO 30:447-450,1964;.
Cooper, M.D., et al:  Immunological Defect in Wiskott-Aldrich Syndrome Patients , read before the 74th annual meeting of the American Pediatric Society, Seattle, June 16-18, 1964 .
Crowe, F.W.; Schull, W.J.; and Neel, J.V.: Multiple Neurofibromatosis , Springfield: Charles C Thomas, Publisher, 1956;.
Dunn, H.G., et al:  Ataxia-Telangiectasia , Canad Med Assoc J 91:1106-1118 ( (Nov 21) ) 1964;.
Eisen, A.H., et al:  Immunologic Deficiency in Ataxia-Telangiectasia , New Eng J Med 272:18-22 ( (Jan 7) ) 1965;.
Eisen, A.H.:  Delayed Hypersensitivity in Ataxia-Telangiectasia , New Eng J Med 272:801 ( (April 15) ) 1965;.
Epstein, W.L., and Klingman, A.M.:  The Interference Phenomenon in Allergic Contact Dermatitis , J Invest Derm 31: 103-108 ( (Aug) ) 1958;.
Fireman, P.; Boesman, M.; and Gitlin, D.:  Ataxia-Telangiectasia: A Dysgammaglobulinemia With Deficient γ1A (β2A)globulin , Lancet 1:1193-1195 ( (May 30) ) 1964;.
Good, R.A., et al:  Agammaglobulinemia, Hypogammaglobulinemia, Hodgkin's Disease, and Sarcoidosis , Progr Allerg 6:187-319,1962;.
Gorlin, R., and Pindborg, J.: Syndromes of the Head and Neck , New York: McGraw-Hill Book Co., Inc., 1964;.
Gutmann, L., and Lemli, L.:  Ataxia-Telangiectasia Associated With Hypogammaglobulinemia , Arch Neurol 8:318-327 ( (March) ) 1963;.
Halvorsen, K., and Halvorsen, S.:  Hartnup Disease , Pediatrics 31:29-38 ( (Jan) ) 1963;.
Hansen, E.:  Ataxia-Telangiectasia: Six Cases , Acta Neurol Scand 38:188-194 ( (June) ) 1962;.
Hitzig, W.H., and Willi, H.:  Hereditäre lympho-plasmocytäre Dysgenesie ("Alymphocytose mit Agammaglobulinämie") , Schweiz Med Wschr 91:1625-1633 ( (Dec) ) 1961;.
Jungo, O.; Glauser, P.; and Köng, E.:  Die chronische progressive cerebelläre Ataxie mit Teleangiektasien (Syndrom von Louis-Bar) , Helvet Paediat Acta 18:280-305 ( (Nov) ) 1963;.
Kansky, A., and Franzot, J.:  Werner's Syndrome , Acta Dermatovener 43:441-450, 1963;.
Karpati, G., et al:  Ataxia-Telangiectasia: Further Observations and Report of Eight Cases , Amer J Dis Child 110:51-63 ( (July) ) 1965;.
Livingstone, C.S.:  Pneumocystis Pneumonia Occurring in a Family With Agammaglobulinemia , Canad Med Assoc J 90:1223-1225,1964;.
Louis-Bar, D.:  Sur un syndrôme progressif comprenant des télangiectasies capillaires cutanées et conjonctivale symétriques, à disposition naevoïde et des troubles cérébelleux , Confin Neurol 4:32-42, 1941;.
Macdonald, W.B.; Fitch, K.D.; and Lewis, I.C.:  Cockayne's Disease: An Heredo-Familial Disorder of Growth and Development , Pediatrics 25:997-1007 ( (June) ) 1960;.
Matthes, A.:  Cerebello-Oculo-Cutane Telangicktasien (Louis-Barsche Krankheit): Eine seltene Phakomatose des Kindersalters , Z Kinderheilk 82:292-300 ( (Feb) ) 1959;.
McKusick, V.A., et al:  Dwarfism in the Amish: I. The Ellisvan Creveld Syndrome , Bull Hopkins Hosp 115:305-336, 1964;.
McKusick, V.A., et al:  Dwarfism in the Amish: II. Cartilage-Hair Hypoplasia , Bull Hopkins Hosp 116:284-326, 1965;.
McKusick, V.A.; Hostetler, J.A.; and Egeland, J.A.:  Genetic Studies of the Amish , Bull Hopkins Hosp 115:203-222, 1964;.
McKusick, V.A., et al:  Hydrometrocolpos as a Simply Inherited Malformation , JAMA 189:813-816 ( (Sept 14) ) 1964;.
Musgr, A.:  Wass sind Phakomatosen? Hautarzt 15:151-156 ( (April) ) 1964;.
Nickel, W.R., and Reed, W.B.:  Tuberous Sclerosis , Arch Derm 85:209-226 ( (Feb) ) 1962;.
Norman, R.M.:  "Observations on the Neuropathology of Cerebellar Disease in Early Life," in Geoffrey Walsh (ed): Cerebellum, Posture, and Cerebral Palsy , Little Club Clin Develop Med 8:49, 1963;.
Osetowska, E., and Tracznyska, H.:  Sur l'ataxie avec telangiectasie, une observation anatomoclinique , Acta Neuropath 3:319-325,1964;.
Paddison, R.M., et al:  Cockayne's Syndrome , Derm Trop 2:195-203 ( (Oct) -Dec) 1963;.
Paine, R.S., and Efron, M.L.:  Atypical Variants of the "Ataxia-Telangiectasia" Syndrome , Develop Med Child Neurol 5:14-23 ( (Feb) ) 1963;.
Perez Soles, A., and Espadaler, J.M.:  Ataxia-Telangiectasia , Rev Esp Otoneurooftal 23:166-178 ( (May) -June) 1964;.
Pfändler, U.:  Une forme semiletale de la surdimutite recessive dans differentes populations de la Suisse orientale , Bull Schweiz Akad Med Wiss 16:255-277,1960;.
Peterson, R.D.A.; Kelley, W.D.; and Good, R.A.:  Ataxia-Telangiectasia: Its Association With a Defective Thymus, Immunological Deficiency Disease, and Malignancy , Lancet 1:1189-1193 ( (May 30) ) 1964;.
Peterson, R.D.A; Cooper, M.D.; and Good, R.A.:  The Pathogenesis of Immunologic Deficiency Diseases , Amer J Med 38:579-604, 1965;.
Peterson, R.D.A.; Blau, M.; and Good, R.A.:  Ataxia-Telangiectasia , J Pediat 63:701, 1963;.
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To understand the clinical management of acute heart failure syndromes.
Accreditation Information The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.
The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
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