小児医学および外科ジャーナル

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Clinical case reports: Multiple pediatric case presentations - Asma Awadalla - Ministry of National Guard Health Affairs

Asma Awadalla

From King Abdullah Specialized Children’s Hospital, Riyadh, Saudi Arabia, I would like to share with other paediatricians 5 cases from the middle east: Arthrogryposis-Renal dysfunction-Cholestasis (ARC) Syndrome: Four cases from different ethnic groups but all from middle east with ARC syndrome a multisystem disorder which was reported as a rare autosomal recessive disorders. Clinical presentations, physical examination and and investigations including genetic tests were described. In three patients we also highlighted the course of the disease and age at death for this life limiting condition. A rare presentation of a complicated case of hypercalcemia: A previously healthy 11 years old boy, who presented with right flank pain for one week.