Thrombocytopenia: first symptom in a patient with dyskeratosis congenita.

A case of dyskeratosis congenita is reported. This rare hereditary disease usually has the following progression: ectodermal dystrophy (reticular skin pigmentation, nail dystrophy, leukokeratosis of mucosal membranes), appearing in the first decade, followed in about 50% of these patients by a hematopoietic disorder resembling Fanconi's anemia, usually developing in the second or third decade. Carcinomas may occur in leukokeratotic areas in the third, fourth, or fifth decade. This patient's clinical course is interesting because the thrombocytopenia developed as an isolated symptom at the age of 5 years and preceded the skin anomalies by three years. The diagnosis of dyskeratosis congenita was made only after an evolution of five years. The diagnosis of dyskeratosis congenita--although it is a rare disease--should be considered in every child first seen with aplastic anemia or thrombocytopenia.

Treatment of patients with myelodysplastic syndromes with allogeneic bone marrow transplantation from genotypically HLA-identical sibling and alternative donors.

Between December 1981 and March 1994, 24 patients with a myelodysplastic syndrome (MDS) underwent allogeneic bone marrow transplantation (BMT) for RA with trilineage dysplasia (n = 4), CMML (n = 1), RAEB (n = 4), RAEBt (n = 9) and AML following MDS (n = 6). Fifteen patients (two RAEB, seven RAEBt and six sAML) received chemotherapy before BMT resulting in complete remission in 10 patients (six RAEBt and four sAML) at the time of BMT. Sixteen marrow donors were genotypically HLA-identical siblings. Remaining donors were other family members (five) or unrelated donors (three). The status of the underlying disease at the time of conditioning was the major factor determining long-term survival. The disease-freed survival of RA patients and patients presenting with RAEB, RAEBt and AML but transplanted in complete remission, was respectively 50 and 60%. On the contrary, none of the nine high-risk MDS patients transplanted with persistent disease, survived. Outcome after transplantation with alternative donors was inferior with one long-term survivor, mainly related to the high incidence of severe acute GVHD and its accompanying infectious complications. Six patients relapsed resulting in an actuarial probability of relapse of 28%. Twelve patients died of transplant-related complications leading to a non-relapse mortality at 5 years of 50%. At present eight patients are alive and disease-free 20 to 132 months post-transplantation resulting in an actuarial 5-year disease-free survival of 40.7%. Our results suggest that allogeneic bone marrow transplantation is a feasible treatment option for patients with MDS. However, improvement in GVHD prophylaxis and supportive care to reduce transplant-treated mortality and improved relapse prevention are imperative.

Cytogenetic investigations in childhood chronic myelocytic leukemia.

Cytogenetic studies were performed on 25 chronic myelogenous leukemia patients aged between 6 mo and 19 yr. Of these, 14 presented with the adult form and 11 with the juvenile form of the disease. In patients with the adult type, 12 of 14 had a Ph chromosome and additional anomalies appearing during blastic transformation. In patients with the juvenile form, 6 of 11 had a monosomy 7 and a short survival time (median 10 mo). Salient features of these patients, as well as a survey of the pertinent literature on the subject, are presented in this paper.

A variant (2;13) translocation in rhabdomyosarcoma.

Cytogenetic analysis of a right buttock mass from a 5-year-old boy showed translocation between an inverted chromosome 1 and a chromosome 13 as the sole cytogenetic abnormality. The breakpoint 13q14 appears to be the same as in previously reported cases of rhabdomyosarcoma (mostly of the alveolar type), but does not show involvement of 2q37. We suggest that this translocation may be a variant of the classical t(2;13)(q37;q14) found in rhabdomyosarcoma.

5q- syndrome in a child.

A boy aged 8 years, 10 months presented with refractory anemia. Bone marrow investigation revealed monolobular megakaryocytes. Cytogenetic analysis showed a clonal abnormality: 46, XY, del(5)(q14q32). This is the youngest individual ever reported with this disorder. A year after diagnosis, while on treatment with human recombinant erythropoietin, the bone marrow showed an excess of blasts. No bone marrow donor could be found. Transformation to acute myelomonocytic leukemia occurred 3 months later. In spite of intensive chemotherapy, the child died of progressive disease with massive splenomegaly and jaundice. The case illustrates that the 5q- syndrome can occur de novo in children. The outcome in this child was poor, which may reflect a difference from the adult 5q- syndrome or may possibly be related to the erythropoietin the child received.

Anomalies of the long arm of chromosome 11 in human myelo- and lymphoproliferative disorders. I. Acute nonlymphocytic leukemia.

In a series of 365 consecutive ANLL cases of which 45.1% had abnormal karyotypes, 13 cases were detected with a structural abnormality of the long arm of chromosome 11. Besides one isochromosome 11q, there were six deletions and six translocations. Of these 12 patients, seven had acute monocytic leukemia (FAB-type M5), two had an M4, two had an M2, and one case of secondary leukemia had an M3-like disorder. Similar results with regard to the type of leukemia were obtained upon analysis of 41 cases of ANLL with an 11q anomaly described in the literature. This study confirms that a high proportion of acute monocytic leukemias and a lesser proportion of acute myelomonocytic leukemias are characterized by an 11q anomaly, mostly involving bands q22 and/or q23. Acute monocytic leukemia with an 11q structural anomaly appears to have a poor prognosis.

Non-endemic Burkitt's lymphoma in a patient with Bloom's syndrome.

Bloom's syndrome is an autosomal recessive disorder characterized by intrauterine growth retardation, typical physical signs, immunodeficiency and an increased risk of developing neoplasms at a young age, compared to the general population. Factors possibly involved in the pathogenesis of non-endemic Burkitt's lymphoma in a five year old girl with Bloom's syndrome are discussed. These include immunodeficiency, upregulated c-myc expression and an Epstein-Barr viral infection.

Lymphedema of the leg associated with rheumatoid arthritis.

A 14-year-old boy with a two year history of seronegative rheumatoid arthritis developed left leg lymphedema and subsequently a severe episode of lymphangitis. The diagnosis of "rheumatoid lymphedema" was confirmed by lymphscintigraphy and conventional lymphography. Treatment consisted of bedrest and antibiotic drugs. When the signs of inflammation had subsided, therapy with corticosteroids was started with improvement of both joint pain and leg swelling. Whereas lymphedema associated with rheumatoid arthritis has been described in the upper limb of adults, to our knowledge this is the first report of the coexistent condition in the lower leg of a child.

[Moyamoya. Diagnosis using MRI and NMR angiography]. / Moya-moya. Diagnostic par IRM et angiographie RMN.

A case of Moya-Moya disease confirmed by cerebral angiography in a 10-year-old girl is reported. Hypertrophic collateral circulation is easily visualized by MRI. MR angiography very accurately demonstrated the vascular obstruction and the collateral circulation. As MR angiography is not invasive, it promises to become a valuable alternative to conventional angiography in the diagnosis of Moya-Moya.

[Transient erythroblastopenia in 4 children]. / Voorbijgaande erytroblastopenie bij 4 kinderen.

In four patients, all girls, aged 2, 3.5, 4 and 5 years, transient erythroblastopenia was diagnosed. The children were presented because of acute pallor. The haemoglobin levels were 2.8 to 5.0 mmol/l. After 3 weeks all patients had recovered or were recovering with increasing haemoglobin values. Three of the four patients needed one blood transfusion. In two patients there was evidence of a parvovirus B19 infection. Transient erythroblastopenia is mostly seen in patients aged 1-4 years. Most cases are postinfectious and there is evidence that human parvovirus B19 is responsible for many cases. In the very young child the differential diagnosis from Blackfan-Diamond anaemia may be very difficult.

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.

Reye syndrome revisited: a descriptive term covering a group of heterogeneous disorders.

UNLABELLED: Reye syndrome, characterised by the combination of liver disease and noninflammatory encephalopathy, is a non-specific clinicopathological entity and a descriptive term covering a group of heterogeneous disorders. Nowadays, some of these patients are diagnosed more correctly as having infectious, metabolic, toxic or other disease. The non-specific case definition implies that the epidemiological studies suggesting a link with acetylsalicylic acid have been performed on a heterogeneous group of children, whereby the value of these studies and their ensuing hypothesis is weakened. Moreover, a detailed analysis of the epidemiological surveys of the Centers for Disease Control, the Yale study and of the British risk factor study provides evidence that not only the use of acetylsalicylic acid but also that of phenothiazines and other anti-emetics is significantly greater in Reye syndrome cases than in controls. As to the decline of Reye syndrome, recent literature data reveal that this is related to more accurate modern diagnosis of infectious, metabolic or toxic disease, reducing the percentage of idiopathic or true cases of Reye syndrome. CONCLUSION: Reye syndrome is a non-specific descriptive term covering a group of heterogeneous disorders. Moreover, not only the use of acetylsalicylic acid but also of antiemetics is statistically significant in Reye syndrome cases. Both facts weaken the validity of the epidemiological surveys suggesting a link with acetylsalicylic acid.