Triple A (Allgrove) syndrome, an autosomal recessive disease is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure with progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation. The triple A syndrome gene, designated AAAS, localized on chromosome 12q 13 encodes for a 546 amino acid protein called ALADIN (Alacrimia-Achlasia-Adrenal Insufficiency and Neurologic disorder). This report relates to two sisters, aged 8 and 12 years, who had vomiting, muscle weakness, alacrimia, excessive fatigue and dysphagia. Abdominal sonography, esophago-gastroduodenoscopy, barium swallow, esophageal manometry, CT scan abdomen and brain, biochemical profiles, as well as neurologic and ophthalmic evaluations were consistent with Allgrove's syndrome. Management consisted of pneumatic balloon dilatation for achalasia and initiation of cortisone therapy with successful resolution of dysphagia and other symptoms.
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Two siblings with triple A syndrome.
BMJ Case Rep
November 2024
Department of Medicine, Mahadevappa Rampure Medical College, Kalaburagi, Karnataka, India.
Triple A syndrome is a rare autosomal recessive disorder presenting as adrenal insufficiency, achalasia and alacrima, often accompanied by neurological complications. We present the cases of two siblings, a girl (patient 1) and a boy (patient 2) in their early adolescence, born from a consanguineous marriage. At the age of 4, patient 1 developed progressive dysphagia when consuming both solid and liquid foods, while patient 2 began displaying abnormal gait by 2 years.
View Article and Find Full Text PDFVery early and severe presentation of Triple A syndrome - case report and review of the literature.
Front Endocrinol (Lausanne)
October 2024
Department of Pediatrics, Faculty of Medicine and University, Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Article Synopsis
- Triple A syndrome (TAS), also known as Allgrove syndrome, is a rare genetic disorder characterized by three main symptoms: alacrima (lack of tears), achalasia (difficulty swallowing), and adrenal insufficiency.
- The disorder is caused by mutations in the ALADIN gene located on chromosome 12q13, affecting protein transport within cells and leading to various neurological issues in many patients.
- A case study details an infant who showed severe symptoms of TAS at just six months, resulting in complications like neurogenic bladder and acute pancreatitis, leading to a fatal outcome by 25 months, highlighting the importance of early diagnosis and awareness of the syndrome's variability.
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.
HGG Adv
October 2024
Department of Clinical Genetics, Erasmus University Medical Center, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
Article Synopsis
- Nuclear pore complexes (NPCs) are critical for transporting materials in and out of the nucleus, and their assembly relies on a transmembrane protein called NDC1, which is essential for recruiting another protein, ALADIN, to the nuclear envelope.
- Biallelic mutations in the NDC1 gene have been identified in individuals with a triple A-like syndrome (excluding adrenal insufficiency), characterized by symptoms such as intellectual disability, motor impairment, and demyelinating polyneuropathy, which are similar to those seen in triple A syndrome caused by ALADIN mutations.
- Research indicates that these mutations hinder the proper function of NDC1, affecting its ability to recruit ALADIN, thereby leading to the observed neurological symptoms and
Fertility and sexual activity in patients with Triple A syndrome.
Front Endocrinol (Lausanne)
March 2024
Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Objective: Triple A syndrome, caused by autosomal recessively inherited mutations in the gene is characterized by alacrima, achalasia, adrenal insufficiency, and neurological impairment. To the best of our knowledge, no patients of both sexes have been reported to have offspring. Our aim was to assess the causes of infertility in male patients with this multisystemic syndrome, and to present a female patient that spontaneously conceived a child.
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Ann Med Surg (Lond)
March 2024
Surgery Department, Aleppo University Hospital, Aleppo, Syria.
Introduction And Importance: Allgrove syndrome (AS) (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). AS can manifest with a plethora of symptoms.
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