ABSTRACT
El síndrome de Allgrove (triple A) es una enfermedad autosómica recesiva rara. La tríada clásica incluye insuficiencia adrenal congénita debida a resistencia a la ACTH, acalasia del cardias y alacrimia. Se asocia a anomalías neurológicas, como neuropatía autonómica, sensitiva y motora, sordera, retraso mental, parkinsonismo y demencia. El gen responsable es el AAAS o ADRACALIN, que codifica una proteína llamada ALADIN. Se presenta un caso de un varón de 19 años, valorado con 10 años en nuestro servicio ante la sospecha de enfermedad de depósito. Presenta retraso mental leve y del lenguaje, voz hipernasal, neuropatía sensitivo-motora con afectación autonómica y semiología de paraparesia espástica. Alacrimia. Reflujo gastroesofágico y acalasia. El estudio molecular demostró 2 mutaciones, la p. Tyr 19 Cys no descrita, y la IVS14+1G-A(AU)
Allgrove syndrome (triple A) is a rare autosomal recessive disease. The classic triad includes, congenital adrenal insufficiency due to ACTH resistance, achalasia of the cardia and alacrimia. Neurological abnormalities are associated with autonomic neuropathy, sensory and motor defects, deafness, mental retardation, Parkinsonism and dementia. The gene responsible is the ADRACALIN or AAAS encoding a protein called ALADIN. We report a case of a 19 year-old male, assessed when he was 10 years old in our department due to suspected storage disease. Mild mental and language retardation, hypernasal voice, sensory-motor neuropathy with autonomic involvement and signs of spastic paraparesis, alacrimia. gastroesophageal reflux, and achalasia. Molecular studies showed to mutations, the undescribed p.Tyr 19 Cys, and IVS14 +1 G(AU)
Subject(s)
Humans , Male , Young Adult , Esophageal Achalasia/complications , Paraparesis, Spastic/complications , Paraparesis, Spastic/diagnosis , Glucocorticoids/therapeutic use , Receptors, Glucocorticoid , Electrophysiology/methods , Diabetic Neuropathies/complications , Diabetic Neuropathies/genetics , Nerve Compression Syndromes/complications , Nerve Compression Syndromes/genetics , Hereditary Sensory and Motor Neuropathy/pathologyABSTRACT
Allgrove syndrome (triple A) is a rare autosomal recessive disease. The classic triad includes, congenital adrenal insufficiency due to ACTH resistance, achalasia of the cardia and alacrimia. Neurological abnormalities are associated with autonomic neuropathy, sensory and motor defects, deafness, mental retardation, Parkinsonism and dementia. The gene responsible is the ADRACALIN or AAAS encoding a protein called ALADIN. We report a case of a 19 year-old male, assessed when he was 10 years old in our department due to suspected storage disease. Mild mental and language retardation, hypernasal voice, sensory-motor neuropathy with autonomic involvement and signs of spastic paraparesis, alacrimia. gastroesophageal reflux, and achalasia. Molecular studies showed to mutations, the undescribed p.Tyr 19 Cys, and IVS14 +1 G.
