Johanson-Blizzard syndrome. a new case with autopsy findings.

Here we present a new case of Johanson-Blizzard Syndrome. Clinical features consistent with the diagnosis of Johanson-Blizzard Syndrome in a term neonate are described: intra-uterine growth retardation, aplasia of the nasal alae, midline scalp defect, total situs inversus, imperforate anus, malrotation of the small intestine, pancreatic insufficiency, deafness, and lethal congenital heart defects with dextrocardia. These features were confirmed by findings at autopsy. Parents were consanguineous. We compare these clinical features and findings at autopsy with previous cases reported in the literature.

An infant with Down syndrome and retinoblastoma. A possible non-fortuitous association.

AIM: To evaluate the association between Down syndrome and retinoblastoma. METHOD: Presentation of a case report and review of the literature. RESULTS: A retinoblastoma was observed in a 10-month-old boy with Down syndrome. A review of the literature yielded 14 other cases, suggesting a possible excess of retinoblastoma in Down syndrome, as previously proposed by two epidemiological studies. The possible roles of external physical agents and hyperplastic and dysplastic lesions of the retina in subjects with Down syndrome is discussed. CONCLUSION: A positive association between Down syndrome and retinoblastoma is possible. An epidemiological study on this subject is needed to better ascertain this potential link.

Uncontrolled-rate freezing and storage at -80 degrees C, with only 3.5-percent DMSO in cryoprotective solution for 109 autologous peripheral blood progenitor cell transplantations.

BACKGROUND: Although controlled-rate freezing and storage in liquid nitrogen are the standard procedure for peripheral blood progenitor cell (PBPC) cryopreservation, uncontrolled-rate freezing and storage at -80 degrees C have been reported. STUDY DESIGN AND METHODS: The prospective evaluation of 109 autologous PBPC transplantations after uncontrolled-rate freezing and storage at -80 degrees C of apheresis products is reported. The cryoprotectant solution contained final concentrations of 1-percent human serum albumin, 2.5-percent hydroxyethyl starch, and 3.5-percent DMSO. RESULTS: With in vitro assays, the median recoveries of nucleated cells (NCs), CD34+ cells, CFU-GM, and BFU-E were 60.8 percent (range, 11.2-107.1%), 79.6 percent (6.3-158.1%), 35.6 percent (0.3-149.5%), and 32.6 percent (1.7-151.1%), respectively. The median length of storage was 7 weeks (range, 1-98). The median cell dose, per kg of body weight, given to patients after the preparative regimen was 6.34 x 10(8) NCs (range, 0.02-38.3), 3.77 x 10(6) CD34+ cells (0.23-58.5), and 66.04 x 10(4) CFU-GM (1.38-405.7). The median time to reach 0.5 x 10(9) granulocytes per L, 20 x 10(9) platelets per L, and 50 x 10(9) reticulocytes per L was 11 (range, 0-37), 11 (0-129), and 17 (0-200) days, respectively. Hematopoietic reconstitution did not differ in patients undergoing myeloablative or nonmyeloablative conditioning regimens before transplantation. CONCLUSION: This simple and less expensive cryopreservation procedure can produce successful engraftment, comparable to that obtained with the standard storage procedure.

Safe and efficient peripheral blood stem cell collection in the smallest of children.

To clarify the factors that may affect the peripheral blood stem cell (PBSC) collection in children weighing < or = 15 kg, a consecutive registry of 109 leukapheresis procedures was analyzed. Collections were performed on a COBE Spectra separator. In 65.1% of the procedures, the peripheral vein, together with a central catheter inserted routinely at diagnosis, or 2 peripheral veins were used to access/return. For 84.4% of the procedures, the extracorporeal line was primed with red blood cells. The median granulocyte-macrophage colony forming unit (CFU-GM) number derived from 1 patient's blood volume processed was 13.8 x 10(4)/kg. Six times, a collection series failed, always in children treated for > or = 26 weeks and 4 of those times in children weighing < or = 11 kg. The patient's age, diagnosis, duration of preleukapheresis treatment, and mobilization regimens did not significantly affect the collection yield. Twenty-four transplantations were performed. The median times to neutrophils >0.5 x 10(9)/L and platelets >20 x 10(9)/L were 13 and 20 days, respectively. We conclude that even in very small children, leukapheresis can be performed safely, allowing adequate PBSC collection for transplantation and/or in vitro manipulations.

Feasibility of a PB CD34+ cell transplantation procedure using standard leukapheresis products in very small children.

To evaluate the feasibility and efficacy of CD34+ cell immunoselection from routine peripheral blood stem cell (PBSC) harvests in very small children a prospective study was performed in 15 children with advanced neuroblastoma weighing 20 kg or less. Products of two consecutive leukaphereses carried out on a COBE Spectra separator after G-CSF alone mobilization were pooled for immunoselection on Ceprate column. The median number of CD34+ cells and total CFU-GM collected were respectively 5.9 x 10(6)/kg (range 2.3-23.4) and 126.9 x 10(4)/kg (range 52.9-559.9). After separation the median number of CD34+ cells in the adsorbed fraction was 2.6 x 10(6)/kg (range 1-9.8) with a median purity of 54% (range 21-82) and a median of 95.7-fold (range 35-250) enrichment. Thirteen patients underwent autografts with CD34+ PBSCs after a busulfan 600 mg/m2 + melphalan 180 mg/m2 preparative regimen. The median number of days to achieve an absolute granulocyte count of 0.5 x 10(9)/l and a platelet count of 20 x 10(9)/l were respectively, 12 (range 10-24) and 35 (range 25-43). The median number of platelet transfusions was nine (range 2-15). We conclude that safe and effective immunoselection and transplantation of CD34+ PBSC can be accomplished in children with low body mass.

[Cancers in children in the Auvergne area: retrospective study from 1986 to 1991]. / Les cancers de l'enfant dans la région Auvergne: étude rétrospective de 1986 à 1991*.

BACKGROUND: The specificity of childhood cancers led to the creation of regional childhood cancer registries. An epidemiological study of childhood cancers in the Auvergne area was carried out over a 6 year-period (1986-1991) in order to create a registry. POPULATION AND METHODS: The population of our study was 252,820 children (0-15 years old), living in the Auvergne region. All malignant neoplasms were included together with brain tumours (whatever grading). Data were collected from medical and administrative sources. RESULTS: The data of 153 cases were collected during this period. World age standardized overall incidence rate was 120.5 cases/milion/year. Age standardized incidence rates were: leukemias 37.6 (ALL 28.01), central nervous system tumours 18.34 (medulloblastomas 4.6, astrocytomas 4.6, ependymomas 3.8), lymphomas 10.0, neuroblastomas 18.6, soft tissue tumors 8.3, bone tumours 6.1 (Ewing's sarcomas 4.1, osteosarcomas 2.0), nephroblastomas 5.5, retinoblastomas 3.1, liver tumours 0.5 and others 0.5. CONCLUSIONS: Our data base in the Auvergne area might be a source of information for epidemiological studies on the role of etiological factors, the survival, the sequelae and the incidence trends.

[Neuroblastoma in the Auvergne region from 1986 to 1991: epidemiological data]. / Le neuroblastome dans la région Auvergne de 1986 à 1991: données épidémiologiques.

An epidemiological study of neuroblastoma in the Auvergne area of France (departments: Puy-de-Dôme, Allier, Cantal, Haute-Loire) was carried out over a 6 years period (1986-1991). Nineteen cases of neuroblastoma were registered during this period. The annual incidence rate is 1.2 among 100,000 children under the age of 15 years. Similar incidence rates from other studies have been reported in the literature. In the department of Rhône, France, a screening program for neuroblastoma was initiated in 1990. The Auvergne area may constitute a population-based control group.