From: Case report of 5 siblings: malnutrition? Rickets? DiGeorge syndrome? Developmental delay?
Gross and microscopic | Laboratory |
Weight: 3180 mg (6.99 pounds) | Toxicology studies all negative |
Length: 57 cm (22 1/2 inches) | Homemade infant formula: no drugs found; not tested for nutrients. |
Head circumference: 38 cm (15 inches) | Ocular fluid: Calcium = 6.0 |
Emaciated appearance | Ocular fluid: Chloride = 108 mmol/l |
The complete absence of the thymus gland | Ocular fluid: Creatinine = 0.2 mg/dl |
"Inconspicuous" parathyroid glands | Ocular fluid: Glucose = < 5.0 mg/dl (considered due to post mortem glucose metabolism) |
Congested pulmonary parenchyma | |
Lungs: postmortem changes and atelectasis | Ocular fluid: Potassium = 10.3 mmol/l |
Liver: passive congestion, no fatty changes | Ocular fluid: BUN = 13 mg/dl |
Pancreas: normal histology | Blood/CSF/lung post mortem cultures all showed heavy gram-negative rods (Klebsiella pneumoniae, citrobacter freundii, and enterococcus faecium). |
Adrenals: spent | |
Mediastinal soft tissue: thymus not present | |
Parathyroid histology: no tissue submitted | |
Spleen: "Immunochemistry for CD3 demonstrates the presence of T-lymphocytes towards the periphery of the Malpighian corpuscles and scattered throughout the red pulp. NOTE: The presence of T-lymphocytes in the spleen excludes the possibility of DiGeorge syndrome." | Ova, parasites, and viral inclusions not found in stool specimen |
Brain: no abnormalities |