PubMed · 10896552
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M Boyne. 2000-07-06. Case 3-2000.. https://doi.org/10.1056/nejm200007063430118
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Triple A (3A) syndrome, a rare autosomal recessive disorder, is characterized by adrenocorticotropic hormone-resistant adrenal insufficiency, achalasia of the cardia, alacrima, and variable autonomic and neurologic dysfunction. The gene responsible, AAAS, recently has been identified. We describe the neurologic phenotype of the first adult case of 3A syndrome presenting bulbospinal amyotrophy as the prominent sign in association with a homozygous nonsense mutation identified in the AAAS gene.
Adrenal hemorrhage has many etiologies including bleeding diathesis. A 10-day-old female baby was admitted to our clinic with the complaint of abdominal distention. Hemorrhage was determined on the right adrenal gland with abdominal ultrasonography and computerized tomography. Laboratory investigations showed PT 44 sec and aPTT longer than one minute. This article reports here an infant diagnosed as adrenal hemorrhage due to Vitamin-K deficiency presenting as an abdominal mass.