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Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.

Kunte H, Trendelenburg G, Matzen J, Ventz M, Kornak U, Harms L.
Case Reports 2010; 31(3): 301-303 PubMed PMID: 20588230 Citation  Keywords:  Adrenal Insufficiency:complications, Adult, Atrophy:complications, Esophageal Achalasia:complications, Heterozygote, Humans, Lacrimal Apparatus Diseases:complications, Male, Mutation, Nerve Tissue Proteins:genetics, Nuclear Pore Complex Proteins:genetics,.   

: A 38-year-old male patient was admitted with slowly progressive spastic gait disturbance. Imaging revealed general spinal cord atrophy. Because of adrenal insufficiency, alacrima and achalasia, triple A syndrome was suspected. This is a case report of a triple A syndrome patient with a predominance of neurological features and a new heterozygous compound mutation in triple A syndrome gene....

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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.

Kurca E, Grofik M, Kucera P, Varsik P.
Case Reports 2005; 26(5): 499-502 PubMed PMID: 16264411 Citation  Keywords:  Adrenal Insufficiency:complications, Adrenocorticotropic Hormone:deficiency, Adult, Autonomic Nervous System:physiopathology, Chromosomes, Human, Pair 12:genetics, Conjunctival Diseases:complications, Electroencephalography, Epilepsy:genetics, Hormone Rep.   

: 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....

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