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Clinical history

Clinical history . 6 month old Native American female Admitted with “near skeletonization” appearance. Birth weight 7 lbs. (50th percentile) Admission weight 11lbs. (>3rd percentile) Glucose 70; trace acetone Albumin 2.4 History of recent diarrhea of unknown severity.

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Clinical history

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  1. Clinical history • 6 month old Native American female • Admitted with “near skeletonization” appearance. • Birth weight 7 lbs. (50th percentile) • Admission weight 11lbs. (>3rd percentile) • Glucose 70; trace acetone • Albumin 2.4 • History of recent diarrhea of unknown severity. • Serum K+ - 1.8; BUN -49; Na+ - 128 • Estimated to be volume depleted (?10%) • Given IV fluids but died after 2 days in hospital • Blood ammonia -51 (elevated)

  2. Autopsy findings: • Anasarca • Plumonary edema • Thymic atrophy • Marked fatty liver metamorphosis • Pancreatic atrophy with ductile ectasia • Lymphoid tissue atrophy

  3. Renal findings: • Gross and microscopic appearances with a fat stain (oil red O).

  4. Are they simply showing the secondary effects of starvation; or is it something else entirely? Reyes syndrome? Fanconi syndrome? Metabolic/genetic disease, etc.? Would appreciate any thoughts on this case from colleagues. Thank you. Mary Ann Sens, MD, PhD Professor and Chair of Pathology UNDSMHS Pathology

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