Table 1. Diagnostic investigation of the index case.
| Workup | Result |
|---|---|
| Microbiology | Blood culture (Day 4, 10, 17 and Postmortem): sterile. Urine for fungal smear (Day 10 and 17): Negative. Cerebrospinal fluid (Day 4): Sugar- 41 mg/dl, Protein- 168 mg/dl, Cells- 120, all polymorphs. Gram-stain and culture - sterile. TORCH profile (Baby): Toxoplasmosis ELISA- IgG and IgM negative; Rubella chemiluminescence- IgM reactive; CMV chemiluminescence- nonreactive; Herpes Simplex ELISA- negative. TORCH profile (Mother): Toxoplasmosis ELISA- IgG and IgM negative; Rubella chemiluminescence- IgM nonreactive, IgG - reactive; CMV chemiluminescence- nonreactive; Herpes Simplex ELISA- negative |
| Immunology |
Immunoglobulin profile: IgM < 11 mg/dL (40-160 mg/dL); IgG 786 mg/dL (300-900 mg/dL); IgA 61 mg/dL (15-70 mg/dL) HIV ELISA – Nonreactive Mother’s antinuclear antibody and antineutrophil cytoplasmic antibodies - Negative |
| Radiological | Chest X-ray (Day 1): Hyper inflated lungs with heterogeneous ill-defined infiltrates? Meconium aspiration syndrome. Chest X-ray (Day 17): Diffuse infiltrative opacification in the peripheral lung field? Interstitial pneumonitis Echocardiography: 3mm patent ductus arteriosus with small atrial septum defect. X-ray of Long bones- normal, no metaphysitis or radioulnar synostosis. Ultrasound of abdomen and pelvis: Cystic dysplasia of right kidney with loss of corticomedullary differentiation, and mild hydroureteronephrosis of the right kidney. Ultrasound cranium: Few echogenic foci in bilateral basal ganglia? Calcification |
| Eye evaluation | (day 5)- No cataract or chorioretinitis. Day 21- Sutural cataract and Fundus couldn’t be visualized |
| Platelet counts | 4000/µL on day 3, 16000/µL on day 5, 21000/µL on day 7, 60000/µL on day 14, 46000/µL on day 21, and 34000/µL on day 29 of life. |