Submitting Author: Drehner, Dennis Michael, DO
Institution: Nemours Children's Hospital, Orlando, FL
Additional authors:Craig Johnson, D.O., Ramamoorthy Nagasubramanian, M.D.
Session: Erythroleukemia and megakaryoblastic AML and mimics

A 5 year old autistic male presented with a history of difficulty walking with bilateral leg and lower back pain. Four months earlier the patient fell on his right side/back. Subsequently he began walking with right leg rotated medially, complained of leg/back pain and subsequently was unable to walk. Evaluation two months before admission resulted in a diagnosis of myositis. Treatment included steroids and naproxen. This resulted in partial resolution of his symptoms. In the month prior to admission the symptoms recurred. Admission physical exam showed weight at ninetieth percentile for age. An MRI done on admission was interpreted as showing: "... Heterogeneous marrow signal abnormality within the proximal femurs and within the bones of the pelvis... consideration must be given to a systemic process such as leukemia..." Laboratory results included: WBC - 7.2(5.97 - 10.49) K/UL; RBC - 4.37(3.92 - 4.72) M/UL; Hgb - 10.1(11.0 -12.8)G/DL; Hct - 30(31.5 - 36.8)%; MCV - 69(76.8 - 83.1) FL; MCH - 23(26.8 - 29.4) PG; MCHC - 33(34.2 - 35.7)G/DL; PLT- 460 (150 - 400)K/UL.

The patient had bilateral posterior iliac crest bone marrow aspirates and biopsies. Ten direct smears were prepared and stained with the Wright Giemsa stain. The aspirate clot and biopsy specimen were fixed in 10 percent buffered formalin. The biopsy was de-calcified. Both biopsy and clot were processed and embedded in paraffin.

The Wright stained direct smears contained numerous spicules. The myeloid population was normal in number and morphology. Some erythroid precursors showed nuclear-cytoplasmic dysynchrony. Others had blebbing of the surface cytoplasmic membrane. There were abundant megakaryocytes.

The biopsies showed a cellularity of approximately 60%. The right biopsy was primarily bone and cartilage. There were prominent areas of serous atrophy in the left biopsy. Also in the left biopsy, there was an area of fibrohistiocytic proliferation with occasional eosinophils.

A CD1a immunohistochemical assay was negative in the fibrohistiocytic proliferation in the left posterior iliac crest biopsy.

Flow cytometry did not reveal a clonal populon.

Ascorbic Acid <0.1(0.6 2.0) mg/dL

46, XY

None

1. MRI changes raised question of leukemic process.

2. Patient's anemia and history of bone pain reinforced the concerns raised by the MRI for a leukemic process.

3.Treatment with steroids before admission suggested the possibility of partially treated leukemia.

4. Erythroid showed changes suggestive of erythroid dyspoiesis - nuclear cytoplasmic dyssynchrony and areas of blebbing at the cytoplasmic surface.

5.There was a fibrohistiocytic proliferation which likely reflected bone remodeling.

6.The serous atrophy and fibrohistiocytic proliferations were reflected in the MRI findingsand have been described in scurvy (Brennan CM et al. Skeletal Radiol, 2012;41:357-360).

7.Child did not appear malnourished, his weight was at 90th percentile for age. This made a vitamin deficiency appear unlikely.

8.Dental changes were noted on initial physical exam. However the presence of multiple caries masked characteristic dental findings of scurvy.

9.. Another autistic child had a bone marrow aspirate and biopsy because of bone pain and MRI findings prior to ascorbic acid level defining diagnosis of scurvy(Case Records of the Massachusetts General Hospital, Case 23-2007. N Engl J Med 2007;357:392-400)

10.Patient responded to ascorbic acid supplementation with rapid resolution of symptoms

11.First bone marrow case, opening day, new children's hospital.

Scurvy, Ascorbic Acid Deficiency Presenting with Features Suspicious for a Leukemic Process.

Fibrohistiocytic proliferation associated with bone remodeling and dyserythropoiesis, associated with ascorbic acid deficiency

Case 334