29 November 2023: Articles
Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant
Rare disease
Lijun Liu B , Chanchan Hu B , Zhenjie Chen A* , Shuzhen Zhu B , Lvchang Zhu CDOI: 10.12659/AJCR.942377
Am J Case Rep 2023; 24:e942377
Table 1. Summary of clinical information and 7 hospitalizations in our hospital over a 10-year period (December 2012 to December 2022).
| Date of admission | 12/31/2012 | 4/10/2015 | 10/30/2017 | 3/7/2020 | 5/4/2020 | 9/10/2021 | 12/8/2022 |
|---|---|---|---|---|---|---|---|
| Age (D, days; M, months; Y, years) | 2M16D | 2Y5M | 5Y | 7Y4M | 7Y6M | 8Y10M | 10Y1M |
| Diagnosis | Ventricular septal defect, atrial septal defect | Hypertrophy of tonsils and adenoids | Chronic secretory otitis media | TTP and AIHA | Sepsis | Sepsis | Sepsis |
| Treatment | Repair of ventricular septal defect and atrial septal defect | Tonsillectomy and adeno-idectomy | Tympanic catheteri-zation | Rituximab | Antibiotics, hormones | Antibiotics, hormones | Antibiotics, hormones |
| Facial features | – | – | – | Sparse hair, mild frontal bossing, and low-set ear | Sparse hair, mild frontal bossing, and low-set ear | Sparse hair, mild frontal bossing, and low-set ear | Sparse hair, mild frontal bossing, and low-set ear |
| Cardiac | Ventricular septal defect, atrial septal defect | – | – | – | – | –– | - |
| Short stature | 4.5 kg | 11 kg | 14.5 kg | 18 kg, 111 cm (BMI/age −0.56 SD, height/age −2.13 SD) | 18 kg, 111 cm (BMI/age −0.56 SD, height/age −2.13 SD) | 19 kg, 116 cm (BMI/age −1.2 SD, height/age −2.61 SD) | 22 kg, 119 cm (BMI/age −0.66 SD, height/age −3.32 SD) |
| Mental evaluation | – | – | – | Mild intellectual disability | – | – | – |
| Hemoglobin | 118 g/L | 130 g/L | 128 g/L | 50 g/L | 81 g/L | 120 g/L | 157 g/L |
| Reticulocyte percentage | – | – | v | 15.48 | 0.57 | – | – |
| Direct antiglobulin test | – | – | – | Slight positive | Slight positive | – | Negative |
| Platelet count | 309×10/L | 275×10/L | 293×10/L | 8×10/L | 218×10/L | 201×10/L | 314×10/L |
| Bone marrow cytology | - | - | - | A moderate number of megaka-ryocytes and poor platelet-producing function | Peripheral blood dilution | – | – |
| Plasma ADAMTS13 activity | – | – | – | 0% | – | – | – |
| ADAMTS13 inhibitor | – | – | – | Positive | – | – | – |
| Prothrombin time | 11.4 (9–14 s) | 11.8 (9–14 s) | 13 (9–14 s) | 13.4 (9–14 s) | 11.9 (9–14 s) | 12.9 (9–14 s) | 13.2 (9–14 s) |
| Activated partial thromboplastin time | 42.3 (23–38 s) | 37.8 (23–38 s) | 37 (23–38 s) | 50.2 (23–38 s) | 33.7 (23–38 s) | 54.8 (23–38 s) | 35.9 (23–38 s) |
| INR | – | – | – | 1.19 (0.8–1.2) | 1.01 (0.8–1.2) | 1.1 (0.8–1.2) | 1.16 (0.8–1.2) |
| Fibrinogen | – | – | – | 2.45 (1.8–4.0 g/L) | 2.54 (1.8–4.0 g/L) | 3.1 (1.8–4.0 g/L) | 1.36 (1.8–4.0 g/L) |
| D-dimer | – | – | – | 8.69 ( | 0.78 ( | 3.34 ( | 0.15 ( |
| Anti-nuclear antibodies | – | – | – | 1: 40 | 1: 80 | 1: 1000 | 1: 1000 |
| Anti-double stranded DNA | – | – | – | Negative | – | – | 300 ( |
| Anti-Sm antibodies | – | – | – | Negative | – | – | Positive |
| Anti-cardiolipin antibodies | – | – | – | Negative | – | – | Negative |
| C3 | – | – | – | 0.799 (0.9–1.8 g/L) | 1.278 (0.9–1.8 g/L) | 1.019 (0.9–1.8 g/L) | 0.615 (0.9–1.8 g/L) |
| C4 | – | – | – | 0.116 (0.9–1.8 g/L) | 0.453 (0.1–0.4 g/L) | 0.283 (0.1–0.4 g/L) | 0.06 (0.1–0.4 g/L) |
| P-ANCA | – | – | – | Positive | Positive | Negative | Negative |
| Proteinuria | – | – | – | 4525 mg/24h | Negative | Negative | Negative |
| Lactate dehydrogenase | – | – | – | 1528 (110–295 U/L) | 499 (110–295 U/L) | 456 (110–295 U/L) | 228 (110–295 U/L) |
| Serum urea nitrogen | – | – | – | 14.75 (1.79–6.43 mmol/L) | – | – | – |
| Serum creatinine | – | – | – | 63 (5–77 μmol/L) | – | – | – |
| AIHA – autoimmune hemolytic anemia; ANCA – antineutrophil cytoplasmic antibody; BMI – body mass index; INR – international normalized ratio; TTP – thrombotic thrombocytopenic purpura. | |||||||