83 year old woman

Introduction

An 83 yo white woman presents with a 4 month history of increasing fatigue. She also reports the gradual onset of paresthesias in her lower extremity associated with neck flexion (Lhermitte's syndrome). She has had no medical attention prior to the presentation. She denies any exposure to radiation or industrial chemicals. Physical Examination:

General: pale, but well-appearing

HEENT: NC/AT, PERRL, conjunctiva pale, sclera non-icteric, no oral lesions

Neck: supple, no JVD, no adenopathy, thyroid normal

Lungs: clear to auscultation, good air movement

CVS: regular rate & rhythm without murmurs, rubs or gallops, carotid pulses good, no bruits

Abd: non tender, bowel sounds are present, no hepatosplenomegaly

Ext: without edema, peripheral pulses present

Lymph: no lymphadenopathy

Skin: vitiligo on arms & torso

Neuro: non-focal, decreased vibration sense in lower extremities, light touch intact, deep tendon reflexes 1+ & symmetric, gait is within normal limits

Laboratory

CBC: WBC: 7400/mm3, Hgb: 5.5 g/dL, MCV: 133 fL, RDW 17.2% 7% polys, 5% bands, 57% lymphs, 18% monos & 3% eos Platelets: 130,000/mm3

peripheral smear:

• macrocytosis, monocytosis & hypersegmented neutrophils

reticulocyte count: 1.1% (0.4%)

serum vit B12: 90 pg/mL (250-1110)

serum folate: > 20 ng/mL

serum LDH: 695 U/L (313-618)

serum antibody to intrinsic factor: positive

TSH 30 uIU/mL, anti TPO > 1:2500

Special laboratory: (GI)

Upper endoscopy revealed atrophic gastritis consistent with pernicious anemia.

Management

• Assessment:
  • Pernicious anemia/megaloblastic anemia, vit B12 deficiency.
  • Hypothyroidism, Hashimoto's thyroiditis.

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• the patient was treated with parenteral vitamin B12 & oral thyroid hormone replacement.
• After 1 week, she reports feeling better with loss of Lhermitte's sign, but the hemoglobin has not increased & her reticulocyte count remains unchanged, despite a serum vitamin B12 level of 1618 pg/mL.

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• A bone marrow aspirate & biopsy is performed.
• The marrow reveals trilineage morphologic changes suggestive of myelodysplasia, including rare ringed sideroblasts, megakaryocytic nuclear abnormalities & an increase in early myeloid precursors
• There was erythroid hypoplasia with dyserythropoiesis.

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• Cytogenetics revealed an abnormal clone 45 XX +der (1;7)q10;p10, -7 in all 20 metaphases analyzed.

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• The patient's 3rd diagnosis is thus the myelomonocytic form of myelodysplastic syndrome.

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• The patient remained transfusion-dependent with monocytosis; however, the MCV normalized as did the posterior column findings.
• Repeat bone marrow biopsy at 6 months revealed persistence of both morphologic & cytogenetic abnormalities.

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• By 18 months, blasts were observed in the peripheral blood & a third bone marrow biopsy revealed acute myeloid leukemia.
• The phenotype of flow cytometry was consistent with myelomonocytic differentiation & the same cytogenetic abnormality persisted.
• She died 20 months after initial presentation.

More general terms

• case presentation