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Keywords:

  • myelofibrosis;
  • children;
  • spontaneous remission.

We read the paper of Altura et al (2000) with interest. We would like to present a further case of juvenile idiopathic myelofibrosis with a follow-up of 16 years. As Altura et al (2000) noted, there are no other reported cases with this length of follow-up. Our case describes complete spontaneous remission of the myelofibrosis, which is extremely rare. Lau et al (1981) reported on the first probable case of complete reversal of severe primary myelofibrosis. There is one further report of spontaneous ‘remission’ of agnogenic myeloid metaplasia but with termination in acute myeloid leukaemia (Ragni & Shreiner, 1981).

The patient presented at 4 years of age after a transient generalized seizure. She was found to have an unexplained anaemia with a haemoglobin of 6·4 g/dl, white blood cell count 9 × 109/l and a platelet count of 194 × 109/l. There was no history of any toxin or drug exposure. A blood film revealed anisocytosis, tear drop poikilocytosis, microcytosis, polychromasia, hypochromasia, occasional target cells and rouleaux formation. The erythrocyte sedimentation rate (ESR) was elevated at 65–95 mm/h. Her serum vitamin B12, folate and red cell folate were within normal limits. Serum lactate dehydrogenase (LDH) was 284 IU/l. Serum iron and total iron binding capacity were within normal limits. Her haemoglobin electrophoresis showed a normal pattern, and bio-profile was also normal. Her autoimmune antibody screen and Mantoux test were negative. A chest radiograph and EEG were also normal.

On examination, she had no lymphadenopathy or hepatosplenomegaly. Bone marrow biopsies were performed, confirming myelofibrosis. The trabeculae was noted to be thickened, and cement lines were irregular, giving a mosaic effect in some areas. There was also an increase in reticulin but no evidence of dysplasia, consistent with an intermediate grade of bone marrow histological pattern. Cytogenetic analysis showed a break in chromosome 11, but not the large number of rings and breaks that one might expect in a patient with Fanconi's anaemia. Ferrokinetic studies with surface counts showed evidence of extramedullary erythropoiesis in both the liver and the spleen.

The patient's treatment took the form of regular blood transfusions with vitamin C and folic acid supplements. The possibility of bone marrow transplantation was considered but, by this time, the patient's blood results were showing a spontaneous improvement.

In 1990, 10 years after her diagnosis she had a further skeletal survey, which was reported as normal. Her haemoglobin, white blood count and platelet counts were within normal limits without transfusion support. In 1996, her repeat bone marrow was entirely normal apart from increased deposition of haemosiderin. Since then, she has remained well.

Juvenile idiopathic myelofibrosis is a rare disease of childhood, and its natural history differs from that of the adult disease. A variable outcome has been reported in the literature (Sekhar et al, 1996). Some describe an aggressive course with a high mortality, with death usually occurring in the first year (Lau et al, 1981). However, in view of our case and others, we feel the management should initially be conservative in nature.

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