Pathological Case of the Month FREE

A 14-MONTH-OLD GIRL, born to a German family with severe psychosocial problems, was breastfed for 4 weeks and then given cow's milk. Vaccinations and vitamin D prophylaxis were not administered. A home examination by emergency medical services revealed a dehydrated asystolic child (not breathing, blue lips, middle-wide pupils without light reaction). On admission, she was intubated, received epinephrine intratracheally, and was transported to the intensive care unit. Her heart rate was 95 bpm with no peripheral pulse or measurable blood pressure, cerebral reflexes were lost, and electroencephalograms showed no electrical activity. Laboratory analysis: white blood cell count, 21.6 ×10³/µL; red blood cell count, 4.0 × 10⁶/µL; hemoglobin, 9.5 g/dL; hematocrit, 32%; platelet count, 201 × 10³/µL; C-reactive protein, 0.087 g/L; total protein, 4.2 g/dL; blood urea nitrogen, 84 mg/dL; creatinine, 1.9 mg/dL; prothrombin time, 49 s; partial platelet thromboplastin time, 113 s; fibrinogen, 2.52 g/L; antithrombin III, 48%; γ-glutamyltransferase, 26 U/L; aspartate aminotransferase, 292 U/L; alanine aminotransferase, 139 U/L; glutamatedehydrogenase, 10 U/L; IgG, 3.43 g/L; IgA, 0.36 g/L; IgM, 0.73 g/L; calcium, 11 mg/dL; phosphate, 10.3 mg/dL; alkaline phosphatase, 1240 U/L; 25-hydroxyvitamin D, 30 mmol/L (normal range [NR], 50-300 mmol/L); parathyroid hormone, 84.7 pmol/L (NR, 1.0-6.0 pmol/L); 1,25-dihydroxy vitamin D, 70 nmol/L (NR, 112-674 nmol/L). The tracheal biopsy specimen grew Streptococcus pneumoniae. Amino and organic acid levels in serum and urine were normal; lactate levels were high. No virus was detected. Chest radiography showed pneumonia. Netilmicin and cefotaxime therapy was initiated. Sodium bicarbonate was administered for metabolic acidosis, but electroencephalograms showed no cerebral activity.

Postmortem radiography showed enlargements of the costochondral junction in the chest and of the epiphyseal-metaphyseal junctions in long bones, with cupping and fraying of the distal ends and signs of double contour at the vertebral column (Figure 1). Glycol methacrylate bone sections without previous decalcification showed widening and thickening of the physeal growth plate (Figure 2A) with poor removal of cartilage, persistent hypertrophic chondrocytes in the zone of provisional ossification (Figure 2B), disordered vascular penetration of cartilage with impaired chondrocyte proliferation, and deposition of newly formed and poorly defined broad osteoid tissue (Figure 2C, D). Subperiosteal bone formation was less affected and overtook endochondral ossification.