A ten-year-old Qatari boy, of Arab ethnicity, presented to our emergency department with a history of intermittent lower back pain of 12 months' duration. The pain was reported by the child as severe in nature, intermittent, restricting his daily routine activity, and with partial response to anti-inflammatory medications like 200 mg of ibuprofen. There was no history of joint involvement. The child's family had sought medical advice repeatedly in the past on an outpatient basis, without any specific work up or diagnosis. The family denied any history of fever, trauma, vigorous excercise, weight loss, or any gastro-intestinal symptoms. There was also a negative history of any raw milk ingestion, chronic cough, or contact with patients known to have tuberculosis. The patient had no previous hospitalizations or blood transfusions. Despite parental consanguinity, there was no family medical history suggestive of sickle cell disease symptoms in any of the first or second degree relatives, nor were the parents aware of any known carrier for Hemoglobin S or thalassemia in the family.
On examination, the child was noted to be in pain that was assessed by numerical rating scale as 8/10. General examination did not show any signs of pallor or jaundice. The patient was afebrile and hemodynamically stable with a temperature of 37.5C orally, heart rate of 100 beats per minute, respiratory rate of 20 breaths per minute, and blood pressure of 120 mmHg/85 mmHg.
The patient's height and weight were at the 50th percentile for his age and sex. Muskuloskeletal examination revealed tenderness upon palpation of the entire lumbo-sacral area, with no other external signs of inflammation such as erythema or swelling. He had limited movement of the trunk, with pain elicited during forward and lateral flexion. There was no spine deformity. There was no hepatosplenomegaly or lymphadenopathy, and the rest of the physcial exam was unremarkbale.
The patient was admitted to the general pediatric ward for pain management and investigation of his recurrent back pain. The admitting differential diagnosis included chronic osteomyelitis involving the lumbosacral vertebrae, primary and secondary bone neoplams, and possible undiagnosed rheumatological conditions. The patient was started on regular intravenous acetaminophen along with oral ibuprofen to manage his pain, to which he responded rapidly.
Initial laboratory results were as follows: white blood cells 9,500/uL (neutrophils 90%; lymphocytes 6.1%; monocytes 3.8%; and basophils 0.1%); hemoglobin 12.5 g/dL; platelets 217,000/uL, mean corpuscular volume of 70.8 fL and mean corpuscular hemoglobin of 23.6 picograms/cell, with a normal reticulocyte count. The peripheral smear showed microcyic hyppochromic red blood cells with mild neutrophil leukocytosis, with rare immature granulocytes and some toxic features.
C-reactive protein was less than 5 mg/L, and erythrocyte sedimentation rate was 9 mm/hour. Serum electrolytes were normal. Urine and blood culture were negative as well as the QuantiFERON test, salmonella, and brucella serology.
Antero-posterior spine radiograph revealed straightening of the lumbar lordosis with multiple fish mouth-appearing vertebral bodies from L2-L5, diffusely porotic bone with accentuated medullary pattern, and normal intervertebral spaces with slight widening of the sacro-iliac joint space. AP chest radiograph was essentially normal, with no mediastinal mass or hilar lymphadenopathy.
Magnetic resonance imaging (MRI) of the spine (Figure 1) and pelvis with contrast was requested on the second day post-admission. It showed multiple bone marrow-replacing lesions involving the thoracic, lumbar, and sacral vertebrae extending from T2 vertebral level downwards to the lower sacral segment. These displayed a predominantly low signal intensisty in T1-weighted images and high signal intensity in T12 fluid-attenuated inversion recovery-weighted images, with a patchy homogenous pattern of enhancement. There was an associated reduction of the height of the vertebral bodies, mainly in L3, L4, L5, and S1 levels.
The MRI findings prompted a consultation with the pediatric hematology and oncology services to discuss the possibility of malignant inflitration, such as with leukemia and lymphoma.
A bone marrow biopsy and an aspirate were conducted, both of which were normal.
MRI of the abdomen was conducted to exclude the possibility of an underlying malignancy. The image showed mild hepatomegaly, with a liver span of 15 cm with moderate splenomegaly, no focal lesions, and no evidence of any abdominal lympahdeopathy or mass lesion in the retroperotenium or adrenal glands.
On day 7 post-admission, the result of the hemoglobin electrophoresis that was requested on admission revealed HbF =2.9%, HbA2 =2%, HbA =0%, HbS =66.8%, and HbE =28.3%, which confirmed the diagnosis of sickle cell disease with HbSE component.
Our patient was discharged with a diagnosis of sickle cell disease (HbSE subtype) on oral folic acid 1 mg once a day and ibuprofen 400 mg per mouth every six hours if needed. In addition, our patient was started on oral penicillin VK 250 mg every 12 hours at the hematologist's discretion, although there are no specific guidelines clarifying the need for penicillin prophylaxis in HbSE disease. The patient's parents refused hemoglobin electrophoresis for themselves as well as for the patient's siblings.
The patient was seen in the pediatric out patient clinic after 2 months and was in a stable condition. In addition, he has been seen twice since then in the pediatric hematology clinic and reportedly has good pain control with ibuprofen as needed. The patient's parents stated that patient had used ibuprofen only twice in 2 months.