Myelofibrosis in a child suffering from a hypereosinophilic syndrome with trisomy 8: response to corticotherapy

The idiopathic hypereosinophilic syndrome (IHS) is extremely rare in childhood and relationships of this syndrome with myeloproliferative diseases are controversial. We reported the observation of a 7-year-old girl suffering from an IHS with myelofibrosis. A clonal cytogenetic abnormality, trisomy 8, was detected in the bone marrow cells of this child. This is the decisive proof of a myeloproliferative disorder. IHS with myelofibrosis is usually considered as unresponsive to corticotherapy. In our case, corticotherapy resulted in a rapid, complete, and lasting disappearance of myelofibrosis. Complete remission of the disease, however, was not achieved and the trisomy 8 persisted after treatment.     

Idiopathic myelofibrosis with generalized periostitis in a 4-year-old girl

Idiopathic myelofibrosis, a chronic myeloproliferative disorder of unknown origin, is characterized by splenomegaly, extramedullary hematopoiesis, leukoerythroblastosis, teardrop erythrocytes, and myelofibrosis. It is a rare disorder in childhood. The authors describe a 4-year-old girl with features consistent with idiopathic myelofibrosis, who also had generalized solid laminated periosteal reaction involving all long bones. The presence of thrombocytopenia at the onset and lack of leukocytosis were in contrast to the reported features seen in children. Recent case reports describe a relatively indolent course in children. Spontaneous remissions have also been described in pediatric cases. The fulminant course of this patient without any features of malignant transformation was noteworthy in this regard.     

Acute monoblastic leukemia with osteosclerosis and extensive myelofibrosis

A 4-month-old infant was admitted with a monoblastic infiltration of the skin associated with osteosclerosis. Both lesions spontaneously disappeared within a few months, but 2 years later, a monoblastic leukemia occurred that was associated with marked skin erythema and myelofibrosis. Skin and bone marrow specimens showed a monoblastic infiltration with numerous intermingled mast cells of normal appearance. Whether myelofibrosis was a feature of a systemic mastocytosis or of the leukemic process is discussed in this case.     

Anemia and hepatosplenomegaly as presenting features in a child with rickets and secondary myelofibrosis

Anemia and hepatosplenomegaly are common reasons for referring a child to a pediatric hematologist or oncologist. Among the many causes for these findings is severe rickets, which has been shown to be associated with secondary myelofibrosis and myeloid metaplasia. The authors present the case of an infant with severe rickets and secondary myelofibrosis and review the differential diagnosis of hepatosplenomegaly from the viewpoint of the pediatric hematologist/oncologist.     

Chronic idiopathic myelofibrosis with myeloid metaplasia presenting as refractory ascites

Chronic idiopathic myelofibrosis (CIM) with myeloid metaplasia is a myeloproliferative disorder characterized by leukoerythroblastosis, tear drop erythrocytes, extra‐medullary hematopoesis (EMH), and varying degree of myelofibrosis. CIM, presenting as refractory ascites secondary to peritoneal hematopoesis, is extremely rare with only six adult cases reported in literature. This is a report of a child with CIM presenting as refractory ascites as a consequence of EMH in the peritoneum. The patient was treated with intermittent hydroxyurea with favorable response over 3 weeks. The patient was thereafter lost to follow up. Pediatr Blood Cancer 2010; 54:151–153. © 2009 Wiley‐Liss, Inc.     

Subcutaneous panniculitic T-cell lymphoma developing in a child with idiopathic myelofibrosis

PURPOSE: Subcutaneous panniculitic T-cell lymphoma is reported in a child with idiopathic myelofibrosis. Both disease entities are rarely seen in children. PATIENT AND METHODS: A girl aged 5 years and 9 months had pancytopenia and severe constitutional symptoms. Idiopathic myelofibrosis was subsequently diagnosed. RESULTS: A transient response was achieved after treatment with a course of high-dose methylprednisolone therapy. However, proptosis and skin nodules developed during tapering of steroid therapy. A computed tomography scan of the orbit also revealed a mass lesion in the right lacrimal gland region. A skin biopsy specimen showed a subcutaneous panniculitic T-cell lymphoma. The clinical course was marked by high fever, profound pancytopenia, massive gastrointestinal bleeding, and severe, recurrent infections. Her condition rapidly deteriorated, and she died from polymicrobial sepsis 4 months after her initial examination. CONCLUSIONS: Subcutaneous panniculitic T-cell lymphoma is a distinctive clinicopathologic entity that is rarely seen in children. The association of myelofibrosis and peripheral T-cell lymphoma as seen in this has been rarely reported.     

Vitamin D-deficiency rickets and myelofibrosis

This study was aimed at detecting the early appearance of myelofibrosis by bone marrow biopsy examination in children with vitamin D-deficiency rickets. Twelve children, aged 4 to 18 months, were evaluated. Only a minimal increase of the reticulin was shown in rachitic children without anemia in whom no other laboratory evidence of myelofibrosis was present. Early signs of myelofibrosis with increase of reticulin were present in rachitic infants with anemia. In patients of the same age with iron deficiency anemia, the bone marrow reticulin findings were normal. Bone marrow biopsy after successful treatment of rickets could be repeated in one patient with myelofibrosis; results indicated that the myelofibrosis with anemia associated with vitamin D-deficiency rickets is reversible by vitamin D treatment.     

Fatal familial infantile myelofibrosis

Malignant megakaryopoiesis can cause chronic or acute myelofibrosis through production of fibrogenic cytokines. Chronic myelofibrosis is a clonal disorder with marrow fibrosis, myeloid metaplasia, gross splenomegaly, and teardrop cells. Acute myelofibrosis differs by its aggressiveness, by the fact that it is more common in children, and by lack of organomegaly or anisopoikilocytosis. Surprisingly, in early childhood and infancy, splenomegaly and teardrop red cells become an important feature. Infantile myelofibrosis is a rare disease, except in Down syndrome. Familial occurrence of infantile myelofibrosis is exceedingly rare. The author describes an unfortunate family whose four consecutive children died of a very fulminant form of acute myelofibrosis during their first year of life. The fulminant nature of the disease, the degree of splenomegaly, and the prominence of anisopoikilocytosis were even more marked than in currently reported cases of infantile myelofibrosis. The mode of inheritance remained illusive. With two female children, sex-linked inheritance was not possible. It could not have been inherited in an autosomal dominant fashion with normal parents and with two normal children from the father's second marriage. A new autosomal dominant mutation in the germ cell of either parent is another possibility. Autosomal recessive inheritance remained a logical explanation, although such a high degree of disease presentation in a non-consanguineous marriage seems to put that possibility in question.     

Myelofibrosis and vitamin D deficient rickets--a rare association

Myelofibrosis is a rare hematological condition in infancy. We report a case of a 6-month-old infant who was diagnosed to have myelofibrosis due to Vitamin D deficient rickets. This rare association of myelofibrosis and rickets is discussed here with a review of relevant literature.     

Association of extensive brain calcifications, myelofibrosis, and retinopathy in a 12-year-old child.

We report a case of a 12-year-old boy with history of myelofibrosis and retinopathy who developed sudden neurological deficits associated with coagulopathy, multiorgan failure, and death. A fluorescent in situ hybridization study revealed monosomy of chromosome 7 in 21% of the bone marrow cells in support of his diagnosis of myelofibrosis. Postmortem neuropathology examination revealed multiple coarse and microcalcifications and cerebral hemorrhages, explaining the patient's neurological deterioration. The findings of myelofibrosis, retinopathy, and cerebral calcifications indicate that this could be a case of a rare condition known as Revesz syndrome.     

Nutritional Rickets Presenting with Myelofibrosis

We describe the clinical course of a 10-month-old breastfed infant with rickets and associated myelofibrosis presenting with anemia and hepatosplenomegaly. Over the follow up, on therapeutic supplementation of vitamin D, child showed reduction in liver and spleen size along with improvement in rickets, anemia, growth and developmental parameters.     

Idiopathic Myelofibrosis in an Infant

Idiopathic Myelofibrosis (MF) is an extremely rare condition in children. It has a very variable clinical spectrum. Cases of secondary myelofibrosis associated with Vitamin D deficiency and Systemic Lupus Erythematosus have been reported from India .In this case report, the authors describe clinical signs, laboratory findings and histologic features in a 6 month old infant with Idiopathic myelofibrosis.     

Myelofibrosis: a cause of increased transfusion requirement in a child with β-thalassemia intermedia

A 10-year-old girl presented with gradually increasing pallor and abdominal distension for 1 year and fever for 6 months. She required 3 packed cell transfusions during this interval. Investigations done revealed that the child had thalassemia intermedia and parents were carrier of β-thalassemia gene. The increased transfusion requirement in this case prompted further investigations, which revealed the presence of myelofibrosis. Case reports of myelofibrosis and myelodysplastic syndromes with acquired hemoglobin disorders exist in literature, especially α-thalassemia. To the best of our knowledge, this is the first reported case of β-thalassemia intermedia in association with myelofibrosis.     

Myelofibrosis: an unusual presentation of vitamin D-deficient rickets

We present the case of a breast-fed 5-month-old infant who presented with pancytopenia, secondary to intense myelofibrosis during the winter months because of undiagnosed rickets. The patient responded to oral vitamin D with rapid resolution of symptoms. Secondary hyperparathyroidism was the probable cause of the myelofibrosis. Conclusion Although nutritional rickets remains a problem in developing countries, children in northern climates in industrialized countries may also be at risk. Rickets must be considered when assessing myelofibrosis in a very young child. Received: 3 February 1998 / Accepted in revised form: 24 February 1999     

Myelofibrosis in a patient with familial hemophagocytic lymphohistiocytosis

We report a unique case of primary hemophagocytic lymphohistiocytosis (HLH) detected in an infant who had bone marrow biopsies demonstrating myelofibrosis, a finding not previously reported in primary HLH.     

Myelofibrosis in neuroblastoma

Myelofibrosis, a rare childhood disorder, has been reported as an associated complication of certain hematologic malignancies or as an isolated idiopathic process. In this report, we describe a patient with metastatic neuroblastoma whose initial presentation included the findings of myelofibrosis and leukoerythroblastosis. The myelofibrosis regressed with chemotherapy and did not recur when the patient's tumor reappeared.     

Pulmonary hypertension complicating bone marrow transplantation for idiopathic myelofibrosis

Idiopathic myelofibrosis is a rare hematologic disorder that is occasionally associated with pulmonary hypertension and has been cured with bone marrow transplantation (BMT). Most cases occur in older adults, but children with similar clinical and pathologic findings have been described. The authors describe a critically ill male infant with idiopathic myelofibrosis and subtle findings suggestive of pulmonary hypertension who was treated with BMT after failing to respond to chemotherapy. After BMT, the patient's clinical course improved in all respects, but he ultimately died of progressive pulmonary hypertension.     

Intracranial involvement in extramedullary hematopoiesis: case report and review of the literature

Intracranial involvement in extramedullary hematopoiesis (EMH) is rare, but it should be suspected in patients with myelofibrosis presenting with chronic severe headache. We present a 9-year-old girl with known myelofibrosis whose headaches were unresponsive to routine treatment. CT and MRI studies of the brain showed diffuse pachymeningeal thickening. CT examinations of the chest and abdomen had demonstrated bilateral thoracic paraspinal masses caused by EMH, suggesting the possibility that the intracranial involvement might also be related to EMH. The diagnosis was confirmed by sulfur colloid isotope scan.     

Myelofibrosis Developing in Megakaryoblastic Leukemia in a Boy with Down's Syndrome

A 2 1 /2-year-old boy with Down's syndrome developed pancytopenia. After spontaneous recovery, leukocytosis with blast cells in peripheral blood and bone marrow developed, and it was associated with thrombocytopenia and splenomegaly. After transient but complete disappearance of all of these findings, they reappeared and a marked fluctuation with 4 subsequent peaks of leukocytosis was observed. Splenomegaly appeared in association with eukocytosis in early phase and persisted after the third peak. Blast cells were identified as megakaryoblasts and had a karyotype of 47, XY, -7, -1 2, +21, +der(7)t(7p+;?)(p22;?), +der(12)t(6;12p+)(pll;ll). Bone marrow biopsy at the time of recovery from pancytopenia showed hypercellularity with many megakaryocytes and minimal fibrosis. Subsequent serial bone marrow biopsies showed progressively developing fibrosis leading to the final picture of typical myelofibrosis. A histological examination of spleen and an omental tissue showed marked blastic infiltration associated with megakaryocytic infiltration. This case suggests that megakaryoblastic leukemia associated with myelofibrosis is anadditional type of abnormal myelopoiesis seen in Down's syndrome.     

Pediatric autoimmune myelofibrosis: Experience from a large pediatric tertiary care center

Autoimmune myelofibrosis (AIMF) is a rare disorder characterized by cytopenias and autoimmunity, with characteristic bone marrow findings that include lymphocytic infiltration and fibrosis. AIMF is described predominantly in adult populations who have systemic lupus erythematosis (SLE), with scant pediatric cases described mainly in older adolescents with SLE. Here, we described the largest single-center pediatric experience of pediatric autoimmune myelofibrosis (PAIMF) series, demonstrating both similarities and distinctions from the adult experience. Patients overall respond well to steroid therapy, but these patients were significantly younger, infrequently carried a diagnosis of SLE, and causative genetic lesions were identified in many cases.