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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 PDFPrimary adrenal insufficiency: case study IN 5 tertiary hospitals.
An Pediatr (Engl Ed)
November 2024
Hospital Universitario Miguel Servet, Zaragoza, Spain.
Article Synopsis
- Primary adrenal insufficiency (PAI) is a rare condition in children marked by low production of important hormones, leading to nonspecific symptoms that can make early diagnosis challenging but crucial for effective management.
- A study was conducted with 29 patients diagnosed with PAI at an average age of 5.6 years, revealing various underlying causes, including genetic conditions and autoimmune issues, with many patients experiencing an adrenal crisis at onset.
- Common signs of PAI include asthenia, hyperpigmentation, and hyponatraemia, but even in their absence, the possibility of PAI should still be considered, particularly as ACTH levels remain high despite treatment.
Esophageal achalasia presenting as recurrent pneumonia in children: A case series.
Medicine (Baltimore)
November 2024
College of Medicine, King Khalid University, Abha, Saudi Arabia.
Esophageal achalasia (EA) is a rare primary esophageal motility disorder that is considered a rare etiology of dysphagia among infants and children. The proposed primary pathophysiology is related to the loss of ganglion cells in the distal esophageal sphincters, particularly in the Auerbachian muscle layer, which then leads to the dysmotility and failure of lower esophageal sphincter relaxation. Dysphagia, vomiting, poor weight gain, cough, and recurrent aspiration pneumonia are the most common presenting complaints.
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
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