Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations

Miyazawa, Haruna; Kimura, M.; Yonezawa, Hisashi; Maeda, Tetsuya

doi:10.2169/internalmedicine.5201-20

Cited by 3 publications

(6 citation statements)

References 22 publications

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“…No quadro 1 pode-se observar uma série de casos relatados nos quais os pacientes apresentam sintomas neurológicos desde a infância, indo de encontro à literatura já existente (NAGABUSHANA; SRIKANTESWARA, 2020;YADAV et al, 2020;HANINO et al, 2021;MIYAZAWA et al, 2021). Freitas (2018) discorre sobre o caso de uma criança de 4 anos que teve como primeiro sintoma relatado a atrofia muscular, e somente após extensa avaliação médica foram identificados os sintomas da tríade clássica, e posterior diagnóstico de AAAS.…”

Section: Resultados E Discussõesunclassified

Síndrome de Allgrove e amiotrofia: uma associação rara

Mendes¹,

Gonzalez²,

Dias³

et al. 2023

BASR

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A Síndrome de Allgrove é uma doença rara hereditária, causada por mutações no gene AAAS, que possui uma tríade clássica de sintomas caracterizada por alacrimia, acalasia e insuficiência adrenal. Além da tríade, sinais neurológicos como disfunção autonômica, microcefalia, disfunção cognitiva ou demência leve, doença do neurônio motor/amiotrofia e outros podem ser mencionados em até 70% dos casos. Nessa perspectiva, o objetivo desse trabalho é a realização de um estudo observacional e exploratório sobre os artigos publicados nos últimos 5 anos sobre associação rara entre a síndrome de allgrove e amiotrofia, uma vez que essa é uma comorbidade rara da síndrome. Dos 140 resultados obtidos na pesquisa, apenas 9 abordaram de forma objetiva sobre o tema, sendo utilizados na confecção do estudo. Segundo a literatura, a amiotrofia é uma comorbidade rara da síndrome de Allgrove, que possui grande relevância devido ao seu curso rápido e progressivo.

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Section: Resultados E Discussõesunclassified

Síndrome de Allgrove e amiotrofia: uma associação rara

Mendes¹,

Gonzalez²,

Dias³

et al. 2023

BASR

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Section: Discussionmentioning

confidence: 99%

“…7,8 Serial studies of individual patients have documented a progressive decline in CMAP amplitude over time. 2,9 One report documented a serial decline in the sural sensory nerve action potential (SNAP) amplitude from 10 to 16 years old, 2 while in another the sensory responses remain normal and unchanged from 9 to 14 years of age. 9 Nerve biopsies have been reported in at least 4 affected patients.…”

Section: Discussionmentioning

confidence: 99%

“…2,9 One report documented a serial decline in the sural sensory nerve action potential (SNAP) amplitude from 10 to 16 years old, 2 while in another the sensory responses remain normal and unchanged from 9 to 14 years of age. 9 Nerve biopsies have been reported in at least 4 affected patients. A 10-year-old boy and a 35-year-old man demonstrated a normal sural nerve biopsy despite a muscle biopsy showing prominent neurogenic changes.…”

Section: Discussionmentioning

confidence: 99%

“…Patients have presented in early adulthood with progressive bulbospinal amyotrophy 7 and concomitant upper and lower motor neuron findings that mimics amyotrophic lateral sclerosis. 8 , 9 Neurophysiological testing has also confirmed a phenotype consisting purely of motor nerve involvement in some patients, 10 while others have been reported to have a sensorimotor polyneuropathy with purely axonal 3 or mixed axonal and demyelinating features. 1 …”

Section: Introductionmentioning

confidence: 93%

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Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review

Weiman

Gillespie

Hartley

et al. 2021

Child Neurology Open

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Allgrove or “Triple A” syndrome is characterized by alacrima, achalasia, and adrenocorticotropic hormone-resistant adrenal insufficiency, as well as central and peripheral nervous system involvement. Patients demonstrate heterogeneity with regard to their age of symptom onset, disease severity, and nature of clinical symptoms. Neurophysiological testing has also shown variability ranging from: motor neuron disease with prominent bulbar involvement, motor-predominant neuropathy, or sensorimotor polyneuropathy with axonal or mixed axonal and demyelinating features. We report an 11-year-old boy who presented with neurological symptoms of progressive spasticity and peripheral neuropathy. His neurophysiological testing confirmed a sensorimotor polyneuropathy with axonal and demyelinating features. Exome sequencing identified compound heterozygote variants in the AAAS gene. We summarize the neurophysiological findings in him and 29 other patients with Allgrove syndrome where nerve conduction study findings were available thereby providing a review of the heterogeneity in neurophysiological findings that have been reported in this rare disorder.

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A 16-year-old boy presented with triple-A syndrome associated with neuromuscular disorders: a case report

Sultan,

Shakoo,

Razouk

et al. 2024

Annals of Medicine &Amp; Surgery

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Introduction and importance: Allgrove syndrome (AAA syndrome) is a rare autosomal recessive disease caused by mutations in the AAAS gene located on chromosome 12q13. The AAAS gene encodes for the ALADIN protein (alacrima, achalasia, adrenal insufficiency, neurologic disorder). Allgrove syndrome can manifest with a plethora of symptoms. Early recognition of the syndrome remains challenging due to its rarity and progressive nature. This report presents an unusual case of Triple-A Syndrome with concurrent neuromuscular manifestations. Understanding the atypical presentation of this syndrome is vital for early diagnosis and appropriate management. Case presentation: We report A 16-year-old boy with severe malnutrition presented with painful swallowing, fatigue, and bilateral congenital ptosis. Barium swallow, upper GI endoscopy, and Shimmer test were performed which led to the diagnosis of Triple-A syndrome. Treatment included Laparoscopic Heller’s Procedure, artificial tears, Hydrocortisone. Clinical discussion: Triple-A syndrome, also known as Allgrove syndrome, is a rare multisystem disorder characterized by achalasia, Addison’s disease, and alacrima. This syndrome is occasionally referred to as 4A syndrome due to the inclusion of autonomic dysfunction. There is no treatment for Allgrove syndrome. Management includes artificial tears for alacrima, glucocorticoid replacement therapy to treat adrenal insufficiency, and treatment of achalasia. Conclusion: This case emphasizes the importance of considering atypical presentations of Triple-A syndrome. Early diagnosis and treatment are paramount in addressing the varied components of this rare disorder. Understanding the clinical complexities of this syndrome aids in improved patient care and underscores the necessity for comprehensive evaluation and management in similar cases.

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Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations

Cited by 3 publications

References 22 publications

Síndrome de Allgrove e amiotrofia: uma associação rara

Síndrome de Allgrove e amiotrofia: uma associação rara

Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review

A 16-year-old boy presented with triple-A syndrome associated with neuromuscular disorders: a case report

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