M. Casteels-Van Daele

A new chromosome anomaly in acute lymphoblastic leukemia (ALL)

SummaryA new chromosome anomaly in acute lymphoblastic leukemia (ALL) is reported. Three, possibly four, patients showed an identical karyotype anomaly, characterized by a (4;11)(q13;q22) reciprocal translocation. This anomaly has not so far been found in lymphoproliferative disorders other than ALL. Two of the patients had congenital leukemia, but the anomaly described appears to be more characteristic of ALL than of congenital leukemia, and may help the clinician in establishing the diagnosis of ALL.

PLEUROPULMONARY BLASTOMA (PULMONARY BLASTOMA OF CHILDHOOD): GENETIC LINK WITH OTHER EMBRYONAL MALIGNANCIES?

A case of pleuropulmonary blastoma (childhood variant of pulmonary blastoma) was examined using histological, immunohistochemical, ultrastructural and cytogenetic methods. The tumour consisted of undifferentiated ‘blastematous’ areas admixed with zones of rhabdomyoblastic and chondroid differentiation and fascicular areas. Desmin and S‐100 protein immunoreactivity confirmed the myogenic and cartilaginous differentiation. Ultrastructurally only undifferentiated mesenchymal cells were present. The cytogenetic analysis revealed abnormalities of 2q. Involvement of 2q has also been described in hepatoblastoma and embryonal rhabdomyosarcoma. Although further confirmation is needed, our cytogenetic findings in pleuropulmonary blastoma suggest common genetic mechanisms in some paediatric embryonal malignancies.

Cytogenetic characterization of congenital or infantile fibrosarcoma

Chromosome analysis of a congenital or infantile fibrosarcoma from the lower left leg of a 3-week-old baby girl showed only numerical changes involving chromosomes 11, 17 and 20. As three more cases with similar combinations of trisomies of the same chromosomes have been described, this report confirms that adult and congenital fibrosarcoma are cytogenetically different and trisomy 11 may be the key-event.

Reye syndrome or side-effects of anti-emetics?

By analysing two patients initially diagnosed as Reye syndrome evidence is given that in some patients considered as having Reye syndrome, the syndrome is an escalation of symptoms due to viral disease and to unrecognized drug-induced encephalopathy, mainly by anti-emetics. A detailed drug history, considering all medication — not exclusively aspirin — taken during the full course of the illness is essential to differentiate between Reye syndrome and drug-induced symptoms. In addition, a critical analysis is presented of the four main case-control surveys that have lead to the proposal that salicylates are primary causative agents of Reye syndrome. In these surveys, medications given during the prodromal illness were adequately recorded, but other drugs given after the onset of vomiting have been overlooked or deliberately excluded. New epidemiological studies are needed, recording all drugs given to the patients throughout the full course of their illness until the moment of admission, in order to elucidate the mystery of Reye syndrome.

Malignant rhabdoid tumour of the liver. A case report

A case of primary malignant rhabdoid tumour of the liver occurring in a 5‐month‐old girl is reported. Histologically the neoplasm presented the ‘typical’ features as described in malignant rhabdoid tumour arising in the kidney. In addition, some areas of the tumour showed a ‘pseudoglandular’ growth pattern. Immunohistochemistry revealed the neoplastic cells to be intensively positive for vimentin and for cytokeratin 19. Variable immunoreactivity for cytokeratin polypeptides 7, 8 and 19 was also detected. On electronmicroscopy the neoplastic cells contained bundles of intermediate filaments, tonofilaments and intercellular junctions. These findings are suggestive of a primitive epithelial differentiation.

Successful treatment of recurrent thrombotic thrombocytopenic purpura with plasmapheresis and vincristine.

An adolescent girl with severe thrombotic thrombocytopenic purpura (TTP) remained in a critical condition after 3, weeks of combined treatment with antiplatelet drugs, plasma infusions and plasma exchange. The introduction of vincristine resulted in gradual improvement and eventual complete remission which lasted for 2 years. When she relapsed, immediate improvement was observed with the combined treatment of plasmapheresis and vincristine. She has now been in complete remission again for 10 months. It is suggested that plasmapheresis plus vincristine should be used as the initial treatment for children with TTP.

Meningoradiculitis due to borreliosis presenting as low back pain only

Abstract We report a child with Borrelia burgdorferi meningoradiculitis. This entity, also known as Bannwarth syndrome, is rare and its presentation with low back pain only is even more unusual. The MRI findings can suggest the diagnosis.

Immunological observations before and after successful treatment of chronic mucocutaneous candidiasis with ketoconazole and transfer factor

A girl, 13 months of age, presented with generalised granulomatous skin, hair and mucosal candidiasis. Her lymphocytes failed to respond in vitro to Candida antigen (CA); the intradermal test with CA was also negative. Serum immunoglobulins, complement components, granulocyte functions (phagocytic and fungicidal), T-cell subsets, mitogenic and allogenic lymphocyte stimulation, natural killer cell activity and immune, interferon production were all found to be normal. No circulating immune complexes were detected.Ketoconazole, an antimycotic drug, 5 mg/kg twice daily for 1 month and 2.5 mg/kg twice daily for another month spectacularly cleared all lesions. Afterwards, 4-monthly injections with transfer factor (TF) were given. Intradermal reactivity to CA was observed after the second TF injection. The lymphocyte responsiveness to CA in vitro became strongly positive 3 months after the last TF injection. The level of CA precipitins in serum, which was very high (11 lines) before ketoconazole treatment, decreased to 4 lines. No serum inhibitor of lymphocyte proliferation to CA could be demonstrated in the patients serum before or after treatment.This specific CA unresponsiveness was not due to an excess of OKT8+(suppressor) cells; macrophage migration inhibiting factor (MIF) production was normal. The nonresponsiveness might be due to antigenic overload or to suppressor cell induction not demonstrable in the present studies. The child has remained free of lesions during 3 years of follow-up without any further treatment.

Carotid and coronary artery involvement in infantile periarteritis nodosa possibly induced by Coxsackie B4 infection

physiological events at that time favour a visceral shift from abdomen to chest. In our patient normal results of a chest X-ray in the neonatal period demonstrated no CDH, therefore he can be classified as acquired or type 4 CDH. It is uncertain when and how herniation occurred, but it appears plausible that his upper respiratory tract infection with dyspnoea may have led to aerophagy with increasing distention of the stomach. This resulted in a mediastinal shift and circulatory problems. Mouth-to-mouth respiration forced more air into the stomach, leading to the clinical and radiological picture of tension pneumothorax. In retrospect, insertion of a chest tube was a risky procedure in view of the presence of stomach and spleen in the chest. Fortunately, the correct diagnosis was reached soon afterwards and surgical correction posed no problems. Awareness of the possibility of late presentation of CDH will lead to a proper diagnosis and prevent hazardous insertion of a chest tube under the mistaken diagnosis of pneumothorax.

Radionuclide bone imaging in toddler's fracture

Seven cases of toddlers fracture are reported. The value of radionuclide bone imaging in helping to establish this diagnosis is discussed.