Ataxia Telangiectasia and Growth Failure FREE

Juan J. Gershanik, MD; Vernon James, MD

Received for publication April 16, 1971; accepted July 16.

Reprint requests to Department of Pediatrics, Medical University of South Carolina, 80 Barre St, Charleston, SC 29401 (Dr. Gershanik).

Am J Dis Child. 1971;122(6):538-540. doi:10.1001/archpedi.1971.02110060108020.

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ABSTRACT

ABSTRACT | REFERENCES

Ataxia telangiectasia is a familial disorder characterized by ataxia, telangiectasia, and recurrent sinopulmonary infections.^1-3 Retardation of growth is a common feature. Many patients have, in addition, immunologic deficiencies⁴ and some have endocrine disturbance. Sexual infantilism, absence of ovaries, bilateral dysgerminomata, hypoplastic adrenals, unspecified cytomegalic changes of the anterior hypophysis, and an unusual form of diabetes mellitus are among the endocrine disturbances reported.^3,5-7

The present study was undertaken to extend previous endocrine observations, to evaluate growth hormone release, and to determine if any measurable endocrine disturbances could be responsible for the growth retardation.

Report of Cases Case 1 and Case 2.—A boy 4 years, 10 months of age (case 1) and his 6-year-old sister (case 2) had all the typical findings of advanced ataxia telangiectasia (Table 1). Telangiectasis of the eyes, face, head, neck, and trunk; café au lait markings, truncal ataxia, and deficiency in fine motor coordination

REFERENCES

ABSTRACT | REFERENCES

Louis-Bar: Sur un syndrome progressif comprenant des telangiectasies capillaires cutanées et conjonctivales symétriques, à disposition nalvoide et des troubles cérébelleux . Confin Neurol 4:32, 1941;.
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Boder E, Sedgwick RP: Ataxia telangiectasia: A Review of 101 cases , in Walsh G (ed): Cerebellum, Posture and Cerebral Palsy . London, William Heinemann Ltd, 1963;, p 100.

Dunn HG, Meuwissen H, Livingstone CS, et al: Ataxia telangiectasia . Canad Med Assoc J 91:1106-1118, 1964;.

Petterson RDA, Kelly WD, Good RA: Ataxia telangiectasia: Its association with a defective thymus, immunological deficiency disease and malignancy . Lancet 1:1189-1193, 1964;.
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Schalch DS, McFarlin DE, Barlow MH: An unusual form of diabetes mellitus in ataxia telangiectasia . New Eng J Med 282:1396-1402, 1970;.
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Bowden DG, Davis PG, Sommers SC: Ataxia telangiectasia: A case with lesions of ovaries and adenohypophysis . J Neuropath Exp Neurol 22:549-554, 1963;.
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Aguilar MJ, Kamoshita S, Landing BH, et al: Pathological observations in ataxia telangiectasia . J Neuropath Exp Neurol 27:659-676, 1968;.
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Ammann AJ, DeQuesnoy R, Good RA: Endocrinologic studies in patients with ataxia telangiectasia and other immunologic deficiency diseases . Clin Exp Immun 6:587-595, 1970;.

Hong R, Ammann AJ: Ataxia telangiectasia . New Eng J Med 283:660, 1970;.

Kaplan SA: Hypopituitarism , in Gardner LI (ed): Endocrine and Genetic Diseases of Childhood . Philadelphia, WB Saunders Co, 1969;, p 98.

Butterfield WJH, Garratt CT, Whichelow MT: Peripheral hormone action: Studies on the clearance and effect of (131-I) iodoinsulin in the peripheral tissue of normal, acromegalic and diabetic subjects . Clin Sci 24:331-341, 1963;.

Schalch DS, Parker ML: A sensitive double antibody immunoassay for human growth hormone in plasma . Nature 203:1141-1142, 1964;.
Link to Article

Morgan CR, Lazarow, A.: Immunoassay of insulin: Two antibody system . Diabetes 12:115-126, 1963;.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal