|Past medical history|
|A 6-year-old girl with history of bruising and fever for 1 month and loose stools for 3 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|
Nonproductive cough, fever, respiratory distress for 2 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.