Familial occurrence of adrenocortical insufficiency in two brothers with Allgrove syndrome. A case report of 4A (Allgrove) syndrome with epilepsy and a new AAAS gene mutation.
Allgrove syndrome is a rare autosomal recessive disease with achalasia, alacrima, adrenocortical insufficiency, autonomic neuropathy and other neurological disturbances. A case of two brothers with Addison s disease from early childhood is presented. The younger brother with Addison disease died at the age of 5. The older brother was treated for adrenocortical insufficiency from the age 3, and then treated for achalasia and epilepsy from the age of 5. The patient is currently 26 years old and suffers from achalasia and adrenocortical insufficiency. He also suffers from alacrima, autonomic neuropathy, epilepsy and other damages of the central and peripheral nervous system. The clinical picture is typical for Allgrove or 4A syndrome, and the diagnosis was confirmed by means of molecular analysis of a new AAAS gene mutation.
Kurca
Egon
E
Clinic of Neurology, Jessenius Faculty of Medicine, Comenius University, Martin, Slovak Republic. kurca@mfn.sk
Grofik
M
M
Kucera
Pavol
P
Varsik
Pavel
P
D000309:Adrenal Insufficiency / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D000324:Adrenocorticotropic Hormone / Q000172:deficiency / Q000627:therapeutic use; D000328:Adult; D001341:Autonomic Nervous System / Q000503:physiopathology; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D003229:Conjunctival Diseases / Q000150:complications; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics*; D020249:Hormone Replacement Therapy; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000523:psychology; D008297:Male; D009154:Mutation / Q000502:physiology*; D009419:Nerve Tissue Proteins; D009460:Neurologic Examination; D028861:Nuclear Pore Complex Proteins; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins; D000324:Adrenocorticotropic Hormone