This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Tsao, C. Y. Articles by Sommer, A. Search for Related Content PubMed PubMed Citation Articles by Tsao, C. Y. Articles by Sommer, A. Social Bookmarking                         What's this?

Familial Adrenal Insufficiency, Achalasia, Alacrima, Peripheral Neuropathy, Microcephaly, Normal Plasma Very Long Chain Fatty Acids, and Normal Muscle Mitochondrial Respiratory Chain Enzymes

Division of Neurology

Carolyn A. Romshe, MD

Division of Endocrinology

Warren D. Lo, MD

Division of Neurology

Francis S. Wright, MD

Division of Neurology

Annemarie Sommer, MD

Division of Genetics, Department of Pediatrics, College of Medicine, Ohio State University, Columbus, OH

Adrenal insufficiency has been associated with adrenoleukodystrophy and adrenomyeloneuropathy. In these diseases, plasma very long chain fatty acids are elevated. Peripheral neuropathy is frequently seen in adults with adrenomyeloneuropathy. We encountered two first cousins with adrenal insufficiency, who also developed peripheral neuropathy, achalasia, alacrima, and microcephaly. However, plasma very long chain fatty acids, pipecolic acid, phytanic acid, and cranial computed tomographic scan were normal. Muscle mitochondrial respiratory chain enzymes were also normal. This syndrome of adrenal insufficiency, achalasia, alacrima, microcephaly, and peripheral neuropathy is different from either adrenomyeloneuropathy or adrenoleukodystrophy. (J Child Neurol 1994;9:135-138).

Journal of Child Neurology, Vol. 9, No. 2, 135-138 (1994)
DOI: 10.1177/088307389400900206


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?

This article has been cited by other articles:

				J Kimber, B N McLean, M Prevett, and S R Hammans Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease J. Neurol. Neurosurg. Psychiatry, May 1, 2003; 74(5): 654 - 657. [Abstract] [Full Text] [PDF]

				F. Sandrini, C. Farmakidis, L. S. Kirschner, S.-M. Wu, A. Tullio-Pelet, S. Lyonnet, D. L. Metzger, C. J. Bourdony, D. Tiosano, W.-Y. Chan, et al. Spectrum of Mutations of the AAAS Gene in Allgrove Syndrome: Lack of Mutations in Six Kindreds with Isolated Resistance to Corticotropin J. Clin. Endocrinol. Metab., November 1, 2001; 86(11): 5433 - 5437. [Abstract] [Full Text] [PDF]

				A. Zeharia, A. Shuper, M. Mimouni, L. Kornreich, A. Rachmel, and T. Lerman-Sagie Periventricular Brain Heterotopias in a Child With Adrenocortical Insufficiency, Achalasia, Alacrima, and Neurologic Abnormalities (Allgrove Syndrome) J Child Neurol, May 1, 1999; 14(5): 331 - 334. [Abstract] [PDF]

				A. J. L. Clark and A. Weber Adrenocorticotropin Insensitivity Syndromes Endocr. Rev., December 1, 1998; 19(6): 828 - 843. [Abstract] [Full Text]