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Neurology International
Volume 10
Issue 2
10.4081/ni.2018.7436
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Neurology International is published by MDPI from Volume 12 Issue 3 (2020). Previous articles were published by another publisher in Open Access under a CC-BY licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

Allgrove Syndrome and Motor Neuron Disease

by
Marcos R.G. de Freitas
1,*,
Marco Orsini
2,3,
Alexandra Prufer de Queiroz Campos Araújo
4,
Luiz João Abraão Jr.
5,
Gilberto Miranda Barbosa
6,
Marcondes C. França
7,
Luan Correia
8,
Victor Hugo Bastos
8,
Eduardo Trajano
2 and
Mauricio da Sant’Anna Jr.
9
1
Federal University of Rio de Janeiro(UFRJ) - Neurology Service, Brazil
2
Applied Science in Health, Severino Sombra University, Vassouras, Brazil
3
Laboratory Mapping and Cerebral Plasticity (LAMPLACE/ UFPI), Federal University of Piauí, Brazil
4
Child Neurology, UFRJ, Rio de Janeiro, Brazil
5
Department of Gastroenterology, Department of Clinical Medicine (UFRJ), Rio de Janeiro, Brazil
6
Department of Endocrinology, Department of Clinical Medicine, UFF, Brazil
7
Department of Neurology, FCM-UNICAMP, Brazil
8
Laboratory Mapping and Cerebral Plasticity (LAMPLA CE/UFPI), Federal University of Piauí Biomedical Sciences Program, PPGCBM, Federal University of Piauí, Parnaíba, Brazil
9
Federal Institute of Rio deJaneiro (IFRJ), Rio de Janeiro, Brazil
*
Author to whom correspondence should be addressed.
Neurol. Int. 2018, 10(2), 7436; https://doi.org/10.4081/ni.2018.7436
Submission received: 7 October 2017 / Revised: 7 October 2017 / Accepted: 26 October 2017 / Published: 4 July 2018

Abstract

Allgrove or triple A syndrome (AS or AAA) is a rare autosomal recessive syndrome with variable phenotype due to mutations in AAAS gene which encodes a protein called ALADIN. Generally, it’s characterized by of adrenal insufficiency in consequence of adrenocorticotropic hormone (ACTH) resistance, besides of achalasia, and alacrimia. Neurologic features are varied and have been the subject of several case reports and reviews. A few cases of Allgrove syndrome with motor neuron disease have been already described. A 25-year-old white man, at the age of four, presented slowly progressive distal amyotrophy and weakness, autonomic dysfunction, dysphagia and lack of tears. He suffered later of orthostatic hypotension and erectile dysfunction. He presented distal amytrophy in four limbs, tongue myofasiculations, alacrimia, hoarseness and dysphagia due to achalasia. The ENMG showed generalized denervation with normal conduction velocities. Genetic testing revealed 2 known pathogenic variants in the AAAS gene (c.938T>C and c.1144_1147delTCTG). Our case presented a distal spinal amyotrophy with slow evolution and symptoms and signs of AS with a mutation in AAAS gen. Some cases of motor neuron disease, as ours, may be due to AAS. Early diagnosis is extremely important for symptomatic treatment.
Keywords: Allgrove syndrome; motor neuron disease; AAAS gene Allgrove syndrome; motor neuron disease; AAAS gene

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MDPI and ACS Style

de Freitas, M.R.G.; Orsini, M.; Prufer de Queiroz Campos Araújo, A.; Abraão Jr., L.J.; Barbosa, G.M.; França, M.C.; Correia, L.; Bastos, V.H.; Trajano, E.; da Sant’Anna Jr., M. Allgrove Syndrome and Motor Neuron Disease. Neurol. Int. 2018, 10, 7436. https://doi.org/10.4081/ni.2018.7436

AMA Style

de Freitas MRG, Orsini M, Prufer de Queiroz Campos Araújo A, Abraão Jr. LJ, Barbosa GM, França MC, Correia L, Bastos VH, Trajano E, da Sant’Anna Jr. M. Allgrove Syndrome and Motor Neuron Disease. Neurology International. 2018; 10(2):7436. https://doi.org/10.4081/ni.2018.7436

Chicago/Turabian Style

de Freitas, Marcos R.G., Marco Orsini, Alexandra Prufer de Queiroz Campos Araújo, Luiz João Abraão Jr., Gilberto Miranda Barbosa, Marcondes C. França, Luan Correia, Victor Hugo Bastos, Eduardo Trajano, and Mauricio da Sant’Anna Jr. 2018. "Allgrove Syndrome and Motor Neuron Disease" Neurology International 10, no. 2: 7436. https://doi.org/10.4081/ni.2018.7436

APA Style

de Freitas, M. R. G., Orsini, M., Prufer de Queiroz Campos Araújo, A., Abraão Jr., L. J., Barbosa, G. M., França, M. C., Correia, L., Bastos, V. H., Trajano, E., & da Sant’Anna Jr., M. (2018). Allgrove Syndrome and Motor Neuron Disease. Neurology International, 10(2), 7436. https://doi.org/10.4081/ni.2018.7436

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