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
Gershanik JJ, James V. Ataxia Telangiectasia and Growth Failure. Am J Dis Child. 1971;122(6):538-540. doi:10.1001/archpedi.1971.02110060108020