Shunt-related abdominal metastases in an infant with medulloblastoma: long-term remission by systemic chemotherapy and surgery.

This is the first reported case of long remission of abdominal metastases spread through a ventriculo-peritoneal shunt in an infant diagnosed, four years ago, at age 1 year and 10 months, to have cerebral medulloblastoma. Two years later, while in second complete remission of his cerebral tumor, he showed abdominal metastases, successfully treated by platinum based chemotherapy and surgery. One year later, a second abdominal relapse and hepatic metastases were treated by doxorubicin administration and surgery. Since then the child remained in continuous complete remission. This unusual favorable outcome can be explained by an extreme responsiveness of the tumor, unprotected by the blood brain barrier, to systemic chemotherapy, particularly to doxorubicin administration. The need for careful surveillance of patients with ventriculo-peritoneal shunts is emphasized. Searching for new tools, such as entrapment of doxorubicin in liposomes, able to overcome the blood-brain barrier and to expose brain tumors to effective drugs, probably represents the best choice for future treatment strategies of CNS tumors.

Radiation late effects in children treated for orbital rhabdomyosarcoma.

BACKGROUND AND PURPOSE: The experience resulting from large cooperative studies shows that correct radiation therapy at doses adequate to the tumor bulk are crucial for local control of rhabdomyosarcoma. The aim of the present study was to document the correlation between modalities and doses of radiotherapy and radiation side effects. PATIENTS AND METHODS: Between 1980 and 1997, 19 patients affected by primary orbital rhabdomyosarcoma have been followed at the University Federico II of Naples. All but three patients, who received 45, 54 and 55 Gy respectively, have been treated by immediate radiation at the dose of 60 Gy, delivered in 2 Gy fractions, five times per week, by cobalt 60 megavoltage equipment. Combined chemotherapy using vincristine and vincristine plus dactinomycin on alternate weeks was also administered as part of induction therapy. RESULTS: An overall survival rate of 94.7% was registered. In our patients the majority of radiation late effects were paid by orbit and ocular adnexa. Side effects to lens and ocular structures were fewer and of low grade. CONCLUSIONS: Radiation therapy is still essential for local control of orbital rhabdomyosarcoma, however radiation side effects have to be carefully considered together with the therapeutic goal to be obtained.

Treatment of EBV-induced lymphoproliferative disorder with epipodophyllotoxin VP16-213.

A case of haemophagocytic lymphohistiocytosis consistent with X-linked lymphoproliferative disorder is described. Remission was observed after administration of VP-213, a cytotoxic drug generally used to treat histiocytosis. The child is currently in good clinical health.

Glucose 6-phosphate dehydrogenase deficiency and red cell membrane defects: additive or synergistic interaction in producing chronic haemolytic anaemia.

We have investigated two unrelated patients with congenital haemolytic anaemia in both of whom we found a combination of hereditary spherocytosis (HS) and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Segregation of the two defects was documented in both families, who had different molecular abnormalities for both HS and G6PD deficiency. In one family the propositus had a reduced level of spectrin and G6PD Seattle (282Asp-->His). In the other family the propositus had a band 3 abnormality and was heterozygous for G6PD Mediterranean (188Ser-->Phe). From a comparison of clinical and haematological findings in family members with either or both abnormalities we conclude that in one case the two defects exhibited a synergistic effect, resulting in a severe chronic haemolytic anaemia; whereas in the other the association was simply additive.

A novel chromosomal abnormality detected in a case of acute myelomonocytic leukemia.

A not yet recorded translocation, t(3:17)(q21;q23), detected in a case of acute myelomonocytic leukemia, is reported. In spite of an aggressive cytotoxic chemotherapy, the disease showed a rapid fatal course, confirming the dismal prognostic significance of structural, 'primary' chromosomal abnormalities in acute leukemias.

Familial erythrophagocytic lymphohistiocytosis: adverse prognostic significance of delayed diagnosis.

Familial erythrophagocytic lymphohistiocytosis (FEL) is a rare disorder of the monocyte-macrophage system, for which an autosomal recessive mode of inheritance has been postulated. It is characterized by a dismal prognosis and is peculiar of early infancy. Three new cases of infants affected by FEL are reported. All three patients were diagnosed about three months after the onset of symptoms, and all three died shortly after diagnosis. The need for early diagnosis and prompt, intensive cytotoxic chemotherapy is emphasized.

Multidisciplinary treatment of primary orbital rhabdomyosarcoma. A single-institution experience.

Orbital rhabdomyosarcoma accounts for one-fourth of the primary tumors in the head and neck region. Modern treatment modalities have led to a 2-year survival rate of about 90% in these patients. However, new therapeutic trials are designed to reduce complications and salvage more than 90% of orbital cases. Between 1979 and 1990, 12 children affected by primary orbital rhabdomyosarcoma have been diagnosed and treated at the University of Naples. Ten of them have been uniformly treated by biopsy, followed by immediate radiation and combined chemotherapy. All 12 patients are alive and free of detectable disease, from a minimum of 7 months to a maximum of 123 months after diagnosis. In all children, ocular structures have been spared and the complications observed until now have been few. The above results suggest that the association of immediate radiation therapy and chemotherapy might represent an optimal tool for treatment of orbital rhabdomyosarcoma.

Non-Hodgkin's lymphoma in childhood presenting as thyroid enlargement.

The authors report a case of a 10-year-old girl with early involvement of the thyroid gland by non-Hodgkin's lymphoma, an uncommon site of presentation of childhood lymphomas. In pediatrics, thyroid enlargement is more often caused by lymphocytic thyroiditis. The good response to therapy, in spite of the advanced stage of the disease, is noted.

Primary cerebral neuroblastomas.

Two children with primary cerebral neuroblastomas are reported and the other cases from the literature are reviewed. Cerebral neuroblastomas are a distinct pathological entity, which differs from other neuroectodermal tumours, although the clinical features are aspecific. The review of the CT findings shows that neuroblastomas appear as large solid tumours in half of the cases and as cystic lesions in the other half; massive contrast enhancement, calcification and cystic hypodensity are typical CT features. The importance of a radical operation and radiotherapy is stressed. The long-term prognosis is better for the cystic forms; also neuroblastomas seem to have a longer survival than other primitive neuroectodermal tumours.

Hepatic sinusoidal dilation in the course of histiocytosis X.

We present a case of disseminated histiocytosis X with hepatic involvement characterized by sinusoidal dilation. This histological feature regressed in connection with the clinical remission of the disease. The present report suggests that sinusoidal dilation might represent a feature of hepatic involvement in the course of histiocytosis X.

Congenital hepatic fibrosis with gastrointestinal bleeding in early infancy.

We report a case of a 19-month-old infant with congenital hepatic fibrosis. The clinical features consisted of portal hypertension with massive gastrointestinal bleeding, recurrent cholangitis, and cystic dysplasia of the kidneys, without impairment of renal function. The dramatic course of the disease required surgical treatment. Congenital hepatic fibrosis with life-threatening gastrointestinal bleeding is extremely rare below three years of age. The purpose of the present report is to stress the need of looking for varices in all cases of congenital hepatic fibrosis, even when occurring in early infancy.

Angioimmunoblastic lymphadenopathy with dysproteinemia: report of the first case in childhood evolving toward spontaneous remission.

This is the first known report of a case of angioimmunoblastic lymphadenopathy, with dysproteinemia (AILD) in childhood which evolved toward a spontaneous remission. The disease had an acute onset with generalized lymphadenopathy, hepatosplenomegaly, high-grade fever and polyclonal hypergammaglobulinemia. The lymph nodes met all of the histologic criteria required for diagnosis as established by Frizzera et al. It is emphasized that AILD should be taken into consideration in the differential diagnosis of lymphadenopathy in childhood.