Table 1 Timeline of patient’s medical history
| Â | Past medical history | ||
|---|---|---|---|
A 6-year-old girl with history of bruising and fever for 1Â month and loose stools for 3Â months. She was a known asthmatic. Her family history was unknown as she was an adopted child. | |||
Hospital/out-patient visits | Diagnostic tests | Interventions | |
October 2013 | Presented with bruises, undocumented fever, and eczematous rashes for 1 month. Petechiae all over the body. Loose stools daily for 3 months with loss of appetite. | Hb 9.0 g/dl, platelet 67 × 109/L, MCV 75.3 fl, MCH 24.2 pg. Normal LFT, RFT, urine examination, and coagulation profile. Blood culture was sterile. ANA titer was negative. Chromosomal breakages was negative with 0.58 breaks/cell, IgA tTG 370 IU/ml, anti-gliadin antibodies 140 IU/ml. Jejunal biopsy – complete villous atrophy with increased intraepithelial lymphocytes. | Antibiotics, packed red cells, and platelet support given. Put on a gluten-free diet, supplemented with multivitamins, vitamin C, and iron. She was discharged on day 17 of hospital stay with Hb 7.9 g/l, TLC 2.5 × 109/l, platelet count of 46 × 109/l, and gluten-free diet. Bone marrow biopsy was advised. |
Noncompliant with yearly follow ups. | Varying platelet levels from 34 × 109/L to 124 × 109/L. | Gluten-free diet | |
October 2016 | Nonproductive cough, fever, respiratory distress for 2Â months. History of recurrent infections over the year | Lung abscess and a cavitary lesion seen on HRCT. Lung culture revealed Pseudomonas aeruginosa. GeneXpert, galactomannan, and BDG antibodies were negative. A bone marrow trephine biopsy revealed hypocellular bone marrow. | She is planned for bone marrow transplantation. Parents were counseled about the disease and treatment. Managed with packed red cells, platelet support, and a gluten-free diet. She showed an increasing trend in platelet count. |