HUM-MOLGEN archive: DIAG: 5 messages, 1 patient request

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 5 submessages, 1 patient request: 1. Wolman Disease 2. AR Hydrocephalus 3. Spondylo-epiphyseal dsyplasia SEDC/COL2A1--Patient Request 4. LDL Binding Assays? 5. Neuroblastoma Carlo Gambacorti MD, Editor, Agnes Tay, MD PhD, Asst Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section =========================================================== 1. Wolman Disease I need information about the Wolman disease. I have to help someone who's asking for information because a 3 year old kid has this disease and they say that they have no cure. Is that true? What can be done? I"ll appreciate any information that you can give me. Thanks. Jimena Antonelli email: jimant@overnet.com.ar ====================================================== 2. AR Hydrocephalus There has been a patient seen through my center that has had three fetuses diagnosed with hydrocephaly by prenatal ultrasound evaluation. The twin of one of these fetues was diagnosed with microcephaly by ultrasound. An autopsy subsequently performed did not identify microcephaly, however, revealed extensive gliosis in the brain and damage of underlying structures. This was thought to have resulted from in utero hypoxia. Chromosome analysis and infection studies were negative for all fetuses (1/3 of fetuses with hydrocephaly was female by chromosomes). The patient and husband are said to be first cousins and of Arabic descent. The husband's niece along with a distant relative are suspected to have hydrocephaly. DNA has been stored on the fetus with the brain abnormalities and one male fetus with hydrocephaly. Please contact me if you are aware of anyone who would be interested in studying or offering DNA testing to this family. Teresa Brady email: tbrady@moose.med.wayne.edu ==================================================== 3. Spondylo-epiphyseal dsyplasia SEDC/COL2A1--Patient Request Apparent Patient Location: UK PLEASE REPLY DIRECTLY TO HUM-MOLGEN Does anyone have ANY information on research / gene therapy studies for treatment of SEDC ? I am the parent of an affected child. Many Thanks ======================================================== 4. LDL Binding Assays? Are any laboratories currently doing LDL binding activity assays on cultured fibroblasts or amniocytes? Chris Friedrich, M.D., Ph.D. Assistant Professor of Medicine, Division of Medical Genetics University of Pennsylvania School of Medicine Philadelphia, PA 19104 (215) 662-4740 cfriedri@mail.med.upenn.edu =========================================================== 5. Neuroblastoma Dear Sir I am an Internet Provider from Italy and I am requesting help for my little friend suffering from neuroblastoma. Here there is a summary of his clinical report. Please send me information and contacts to help my little friend. SUMMARY OF CLINICAL REPORT The two and a half year old child came to us on 8th April 1997 as she had been suffering from fever and pains in the joints for a month and a half. Palpable liver at about 2 cm from the costal arcade. 09/04/97: Bone marrow aspirate: 5M 31%; SE 2%; SL 43%; Blasts 24%; reduced cellularity, absent megakaryocytos, presence of numerous rosetta shaped formations; immunologic phenotype: CD 56+/CD 45- : 57%; 10/04/97: Abdomen echography : modest hepatomegaly, in the presumed right suprarenal seat, between right superior renal pole and adjacent right hepatic lober territory a rough solid plastic foam echographically dishomogeneous is evident. Curvilinear trace on the contigous fragment of the inferior vena cava (diameter of the plastic foam 5,2 X 4,4 cm); in axis the aorta; not evident retroperitoneal adenopathies. VMA : 5.6 mg/24h; CRANIUM CAT: Patient uncooperative. As for as it can be valued, the ventricular system seems to be in axis, of normal morphology and dimensions. Neither hypodense lesions to the cerebral parenchyma detriment nor pathological impregnations after contrast medium seem to be appreciable. THORAX AND SUP. ABDOMEN CAT: test carried out without and with contrast. Right and left lung, nothing to remark. Regular mediastinal organs according to the age. In correspondence of the right adrenal gland a solid formation modically dishomogeneous with regular margins of 6x5.5 cm is evident; not evident loco-regional adenopathies. Liver, pancreas, spleen and loins: nothing to remark. Regular bladder. 12/04/97: Skeleton RX: notable diffused microlacunar porosis of the brain case, with a finely "worm-holed" aspect. Numerous digitated prints. Wide and bad delimitable sella turcica for probable bony rarefaction in sphenoidal seat. 17/04/97: Suprarenal neoformation removal operation: oblique overumbilical transversallaparothomy upwards on the right. Not any continuity relationship between the superior pole and the same mass. Roundish pseudocapsule-shaped mass, on the superior sur£ace of which you can see the adrenal gland appearing as unrolled and transversely disposed on the mass. The mass moves only partially the VCI. No pathological lymph-nodes seem to be, so it can be removed in toto together with the cavity covering. No damage for liver and other organs. Complementary appendicectomy. 24/04/97: histological report: macroscopic aspect: oval shaped neoformation of the right adrenal gland of 6x5, 5x4 cm of 60 g of weight, so£t consistence. At the cut grey-reddish colour, with little hemorragic necrotic centres of infection. DIAGNOSIS: indifferentiated neuroblastoma of the adrenal gland with a high mitotic index infiltrating the perisuprarenal adipose cellular tissue with focal interest in the surgical margins of resection (neuroblastoma with indifferentiated poor stroma at high MKI acc. to Shimada; indifferentiated neuroblastoma with high mitotic index acc. to Joshi). 26/04/97: Return at ward. The patient begins the therapy according to the protocol AIEOP NB '92 IV GROUP INSS, IV STAGE AR AIEOP: I CICLE D-CECAT: Desferal ev for 3 days; THIOTEPA ev for 3 days; VEPESIDE ev for 3 days; ENDOXAN ev for 2 days; PARAPLATINO ev for 2 days. 01/05/97: the patient finishes I cycle of therapy 02/05/97: quite good general conditions. Presence of on the right more evident overorbital ecchymosis. Apyrexia 19 /05 97 Negative bony scintigraphy. Please contact me : Ing. Antonio Manno email: antonio@ba.dada.it Tel ++39/883/330000 Fax ++39/883/347357 =========================================================