Case report:
18-year-old Qatari lady, known case of DiGeorge syndrome, presented with
a history of intermittent high-grade fever, runny nose, and cough
productive of whitish sputum. On the day of presentation, the patient
developed nausea and three episodes of yellowish, non-blood-stained
vomiting. There were no sick contacts or recent travel. The review of
the system was remarkable for dark urine and 5 Kg of weight loss over
the preceding 10days. The patient had no history of alcohol use and did
not follow a specific diet; however, meat was limited in her diet due to
dietary preferences.
Her history was significant for recurrent childhood infections,
attributed to immunosuppression secondary to DiGeorge syndrome. She was
also diagnosed with patent ductus arteriosus and a small ventricular
septal defect. Both were hemodynamically insignificant and managed
conservatively. The patient also suffered from a learning disability and
attention deficit hyperactivity disorder (ADHD), which were also
attributed to the DiGeorge syndrome.
Upon presentation, the patient was febrile (38.7 C) and tachycardiac
(118 beats per minute) but had no desaturation, tachypnea, or
hypotension. Physical examination revealed a young lady sitting
comfortably in bed, not in any distress. The conjunctivae were pale and
scleral icterus was noted. The rest of the physical exam was within
normal limits. A complete sepsis screen, including a chest X-ray, urine
culture, blood cultures, malaria screen, and a nasopharyngeal swab for
the respiratory viral screen, including RT-PCR for COVID-19, was sent
looking for an underlying infection. The results were negative except
for the presence of rhinovirus and adenovirus in the nasopharyngeal
swab. A complete blood count showed neutrophilic leukocytosis and severe
macrocytic, hypochromic anemia (hemoglobin 3.5gm/dL) with high red cell
distribution width. [Table 1]
An anemia workup showed reticulocytosis, a high LDH, and low haptoglobin
with indirect hyperbilirubinemia keeping in line with intravascular
hemolysis. Peripheral blood smear showed marked macrocytic anemia with
anisocytosis, basophilic stripling, nucleated red blood cells, increased
rouleaux formation, and red cell agglutination. Hyper-segmented
neutrophils (>6 lobes) were also noted. Other laboratory
workup was unrevealing. [Table 1]
With a working diagnosis of hemolytic anemia likely precipitated by an
underlying infection, the direct Coomb’s test for polyspecific antihuman
globulin (AHG) was sent and was positive. The monospecific AHG was
positive for anti-IgG and negative for anti-C3d. An eluate was prepared
and tested for confirmation of antibodies, and the positive elution test
confirmed the presence of warm IgG antibody-induced autoimmune hemolytic
anemia (AIHA). A complete autoimmune screen was negative. Serum IgG,
IgM, C3, and C4 levels were within normal limits. A computerized
tomography scan of the chest, abdomen, and pelvis was performed to rule
out any underlying malignancy as the cause of hemolysis and was
unrevealing. Bone-marrow examination showed features consistent with
active hematopoiesis and a normal B and T-cell population.
The patient received two units of packed red cells and 100mg intravenous
of methylprednisolone. A hematology opinion was sought, and the patient
was planned to receive seven days of intravenous (IV)
methylprednisolone, followed by a tapering course of oral steroids.
Also, she received intravenous immunoglobulin (IVIG) for three days. She
also received IV cyanocobalamin 1000mcg daily for the duration of her
hospital stay and will continue oral vitamin B12 therapy. The patient’s
hemoglobin was stable throughout her hospital stay, and she will be
followed up in the hematology clinic for further management. [Figure
1]