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Table 2 Autopsy findings

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