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

Abstract

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).

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References

Allgrove J. , Clayden GS , Grant DB , Macaulay JC : Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1978;1:1284-1286.

Degli Esposti A , Ambrosioni G. , Giardina A. , et al: Sindrome familiare di ipoglicocorticismo da insensibilita all'ACTH, acalasia, alacrimia, con associata neuromipatia distale. Minerva Pediatr 1985;37:353-359.

Ehrich E. , Aranoff G. , Johnson WG : Familial achalasia associated with adrenocortical insufficiency, alacrima and neurological abnormalities. Am J Med Genet 1987;26:637-644.

Moore PS , Couch RM , Perry YS , et al: Allgrove syndrome: An autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima. Clin Endocrinol (Oxf) 1991;34:107-114.

Dumic M. , Radica A. , Jusic A. , et al: Selective ACTH insensitivity associated with autonomic nervous system disorders and sensory polyneuropathy. Eur J Pediatr 1987;146:592-594.

Stuckey BG , Mastaglia FL , Reed WD , Pullan PT : Glucocorticoid insufficiency, achalasia, alacrima with autonomic and motor neuropathy. Ann Intern Med 1987;106:62-64.

McKusick VA : Mendelian Inheritance in Man, 8th ed. Baltimore, Johns Hopkins Press, 1988, p 793.

Moser HW , Moser AE : Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy . Ann Neurol 1984; 16:628-641.

Naidu S. , Moser HW : Peroxisomal disorders. Neurol Clin 1990;8:507-528.

10.

Ouvrier RA , McLead JG , Pollard JD : Peripheral Neuropathy in Childhood. New York, Raven Press, 1990.

11.

Rosen NL , Lechtenberg R. , Wisniewski K. , et al: Adrenoleukomyeloneuropathy with onset in early childhood. Ann Neurol 1985;17:311-312.

12.

Kalimo H. , Olsson Y. : Effects of severe hypoglycemia on the human brain. Acta Neurol Scand 1980;62:345-356.

13.

Auer RN , Wieloch T. , Olsson Y. , et al: The distribution of hypoglycemic brain damage. Acta Neuropathol (Berl) 1984;64: 177-191.

14.

Auer RN , Olsson Y. , Siesjo BK : Hypoglycemic brain injury in the rat: Correlation of density of brain damage with the EEG isoelectric time: A quantitative study. Diabetes 1984;33:1090-1098.

15.

: Grant DB , Dunger DB , Smith I. , et al: Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia . Eur J Pediatr 1992;151:85-89.