J. Ninane

Disseminated BCG in HIV infection.

A boy, born to a mother with AIDS related complex, was immunised with BCG on the 10th day of life. At the age of 4 months he presented with a local enlarged lymph node, fever, hypotonia, and diarrhoea. Mycobacterium bovis, BCG strain, was grown from the lymph node and cerebrospinal fluid; this proved dissemination.

Persistence of fetal hemoglobin production after successful transplantation of cord blood stem cells in a patient with sickle cell anemia.

A girl with sickle cell anemia was treated with cord blood transplantation combined with hematopoietic growth factor. Cord blood cells were collected from a sister with an identical human leukocyte antigen complex who was a carrier of the sickle cell trait (hemoglobin AS). The patient had complete engraftment and no graft-versus-host disease. The persistence of a high level of fetal hemoglobin 6 months after engraftment was noted.

AIDS in two African children--one with fibrosarcoma of the liver.

We report here on two black African girls who developed an acquired immune deficiency syndrome (AIDS). The first patient was a premature girl born to healthy parents. She suffered from interstitial pneumonitis during the first week of life and died of it at the age of 6 months. Her mother, although asymptomatic, had polyclonal hypergammaglobulinaemia, a reversed T-helper/T-suppressor ratio and a decreased lymphocyte response to mitogens. The second patient had the first symptoms at the age of 6 years, developed a primitive malignant fibrosarcoma of the liver at 8 years old and died 1 year later. AIDS can affect black African children who have not been transfused and whose family members are not considered as at a high risk for this disease. In children, AIDS and cancer can be associated. In the second patient, cytotoxic suppressor lymphocytes (OKT8 positive cells) were shown to behave in vitro as precursors of T-killer cells.

Bone marrow transplantation in sickle cell anaemia.

Sickle cell anaemia is still responsible for severe crippling and death in young patients living in developing countries. Apart from prophylaxis and treatment of infections, no active treatment can be safely proposed in such areas of the world. Therefore a bone marrow transplantation was performed in 12 patients staying in Belgium and planning to return to Africa. Twelve patients, aged between 11 months and 23 years (median 4 years), underwent a HLA identical bone marrow transplantation. The conditioning regimen included oral busulphan for four consecutive days (4 mg/kg) followed by four days of intravenous cyclophosphamide (50 mg/kg). In 10 patients the engraftment was rapid and sustained. A further patient suffered transient red cell hypoplasia and another underwent a second bone marrow transplantation from the same donor at day 62 because of graft rejection. All patients are alive and well with a follow up ranging from 9-51 months (median 27 months). In all cases a complete cessation of vaso-occlusive episodes and haemolysis was observed as was a change in the haemoglobin pattern in accordance with the donors electrophoretic pattern.

Two cases of congenital dyserythropoietic anaemia type I associated with unusual skeletal abnormalities of the limbs

This report describes the cases of two young female patients with congenital dyserythropoietic anaemia (CDA) type I who presented similar hand and foot skeletal abnormalities: lack of distal phalanges and nails, and syndactyly. Up to now, some morphological malformations have been described in association with CDA type I but there is no report of skeletal defects.

Unifocal cervical Castleman disease in two children.

Abstract Castleman disease (CD) is a benign lymphoproliferative disorder characterized by enlarged hyperplastic lymph nodes. Most observations focus on adult patients. In children the disease is rare, usually localized and may be symptomatic or asymptomatic. We reported two children, 7 and 14 years old respectively, affected by unifocal cervical CD of the hyaline vascular type. Conclusion Two cases illustrate that CD may mimic a neoplasm and should be considered in presence of a solitary neck mass with specific features on CT and MRI.

Familial essential thrombocythemia

We report three siblings (2 F, 1 M) aged 9, 12, and 15 years with a thrombocytosis, above 650 X 10(9)/l for at least 18 months and a leukocyte alkaline phosphatase score below 37. The diagnosis of essential thrombocythemia was based upon the exclusion of a reactive thrombocytosis or another myeloproliferative disease. Cytogenetic examination of marrow cells was normal.

Primary and secondary osteosarcoma of the face: a rare childhood malignancy.

BACKGROUND Osteosarcoma of the head and neck, especially primary forms, remains a rare and highly malignant tumor. PATIENTS This report describes two patients who developed an osteosarcoma of the face more than ten years after treatment for bilateral retinoblastoma. We also report a third patient who presented with a primary osteosarcoma of the right superior maxilla which is one of the rarest tumors encountered in childhood oncology. CONCLUSIONS The mainstay of therapy is surgical resection with negative margins. Careful, long-term follow-up of survivors of hereditary retinoblastoma is essential, especially for those given radiation therapy.

A variant of the congenital dyserythropoietic anaemia type II with structural abnormalities in the granulocytic series.

Typical features of congenital dyserythropoietic anaemia (CDA) were found in a 13-year-old girl admitted for chronic recurrent multifocal osteomyelitis. The findings on light microscopy were in agreement with those described in CDA type II, whereas on electron microscopy, the ultrastructure findings were compatible with both types I and II. The acidified serum lysis test (Ham test) performed with eight normal sera was negative. The patients red blood cells showed an increased agglutinability with anti-i antibodies. Morphological changes were also shown in the mature neutrophilic granulocyte suggesting that the primary disorder exists already in the multipotent stem cell.

Chronic relapsing thrombotic thrombocytopenic purpura: three case reports and update of the pathogenesis and therapeutic modalities.

Abstract Chronic relapsing thrombotic thrombocytopenic purpura (CRTTP) is the rarest type of TTP, usually presenting in childhood. The aetiology is still not fully explained. The disorder is associated with the presence in plasma of unusually large von Willebrand factor (UlvWF) multimers that are especially prominent between episodes. CRTTP can be prevented by periodic plasma transfusions. We report three children with congenital CRTTP who have been successfully treated and maintained in prolonged remission by the prophylactic use of fresh frozen plasma without concurrent plasmapheresis. Two of the patients are sibs.