Transaldolase TALDO defi ciency is a rare autosomal recessive disorder of the pentose phosphate pathway. It has variable presentations with poor outcome when present early in life. We present a young Saudi infant with a fatal early presentation of TALD defi ciency.
Esophageal duplication (ED) is a rare congenital anomaly, representing 10%-15% of all foregut duplications. Neonates may present with respiratory distress, while older children usually present with dysphagia. We report here a rare case of tubular duplication of the esophagus presenting with dysphagia in a 12-year-old Saudi boy.
Transaldolase TALDO deficiency is a rare autosomal recessive disorder of the pentose phosphate pathway. It has variable presentations with poor outcome when present early in life. We present a young Saudi infant with a fatal early presentation of TALDO deficiency.
There is considerable variation among children in their perception and tolerance for abdominal pain. This make the evaluation of chronic abdominal pain is difficult (1) . Hereditary angioedema is a rare differential diagnosis to cause abdominal pain in 2 years old child. We report a 2 years old girl with recurrent abdominal pain that require recurrent visit to ER without accompanying skin swelling whose diagnosis as hereditary angioedema and it is the first case reported at this age.
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