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MINI REVIEW article

Front. Endocrinol.
Sec. Adrenal Endocrinology
Volume 15 - 2024 | doi: 10.3389/fendo.2024.1431383

Very early and severe presentation of Triple A (Allgrove) syndrome case report and review of the literature

Provisionally accepted
Maja Cehic Maja Cehic 1*Katarina Mitrovic Katarina Mitrovic 1,2Rade Vukovic Rade Vukovic 1,2Tatjana Milenković Tatjana Milenković 1Gordana Kovacevic Gordana Kovacevic 1,3Sladjana Todorovic Sladjana Todorovic 1Sanja Panic Zaric Sanja Panic Zaric 1Dimitrije Cvetkovic Dimitrije Cvetkovic 1Aleksandra Paripovic Aleksandra Paripovic 2,4Angela Huebner Angela Huebner 5Katrin Koehler Katrin Koehler 5Friederike Quitter Friederike Quitter 5*
  • 1 Department of Endocrinology, The Institute for Health Protection of Mother and Child Serbia, Belgrade, Serbia
  • 2 Department of Nephrology, The Institute for Health Protection of Mother and Child Serbia, Belgrade, Serbia
  • 3 Department of Neurology, The Institute for Health Protection of Mother and Child Serbia, Belgrade, Serbia
  • 4 Faculty of Medicine, University of Belgrade, Belgrade, Serbia
  • 5 Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

The final, formatted version of the article will be published soon.

    Triple A syndrome (TAS), also known as Allgrove syndrome (OMIM#231550), is a rare, autosomal recessive disorder characterized by the triad of alacrima, achalasia, and adrenal insufficiency. Additional neurological features may be present in two-thirds of patients, involving central, peripheral, and autonomic nervous system manifestations. TAS is caused by genetic alterations in the AAAS gene on chromosome 12q13, which encodes the nuclear pore complex protein termed ALADIN (ALacrima, Achalasia, aDrenal Insufficiency, and Neurologic disorder).ALADIN plays a crucial role in nucleocytoplasmic transport of specific proteins, including the transport of DNA repair proteins. TAS exhibits significant phenotypic variability in terms of symptom onset, frequency, and severity, often presenting with a progressive clinical course indicative of an underlying degenerative process.In this study, we report the case of an infant with exceptionally early and severe manifestations of triple A syndrome, with a review of the literature. Our patient exhibited the complete classical triad of TAS at six months of age, being amongst the youngest reported cases of the syndrome.The clinical course was complicated by severe involvement of the autonomic nervous system, neurogenic bladder, and recurrent urinary tract infections. Subsequently, the patient developed acute pancreatitis, leading to multiorgan dysfunction and a fatal outcome at 25 months of age. This case underscores the potential for atypical disease presentations and the need for clinical awareness in diagnosing and managing patients with TAS.

    Keywords: Triple A syndrome, TAS, Allgrove syndrome, Alacrima, Achalasia, Adrenal Insufficiency

    Received: 11 May 2024; Accepted: 04 Sep 2024.

    Copyright: © 2024 Cehic, Mitrovic, Vukovic, Milenković, Kovacevic, Todorovic, Panic Zaric, Cvetkovic, Paripovic, Huebner, Koehler and Quitter. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Maja Cehic, Department of Endocrinology, The Institute for Health Protection of Mother and Child Serbia, Belgrade, Serbia
    Friederike Quitter, Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

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