Familial achalasia in siblings has been reported previously. We describe the clinical and radiographic findings in two siblings with achalasia. A discussion of the possible hereditary influence in achalasia is presented as well as a pertinent review of the literature.
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Two siblings with triple A syndrome.
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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.
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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.
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Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the c.1331+1G>A Variant, and Implications for Genetic Diagnosis.
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Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
Introduction: Triple-A syndrome (Triple-A) is an autosomal recessive disorder characterized by alacrimia, achalasia, and adrenal insufficiency. Several variants on the gene have been described, and some variants are clustered in particular geographical areas, such as the c.1331+1G>A variant which is very frequent in North Africa.
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