P 916. Lissencephaly and Prolonged Survival of a Male Infant with MICPCH and a Noval Mutation in the CASK Gene, Xp11.4

2018 ◽  
Author(s):  
Maria Dehmel ◽  
Gabriele Hahn ◽  
Sebastian Brenner ◽  
Sonja Walsh ◽  
Nataliya Didonato ◽  
...  
1976 ◽  
Vol 36 (03) ◽  
pp. 495-502 ◽  
Author(s):  
Geoffrey Mendelsohn ◽  
Edward D. Gomperts ◽  
Dennis Gurwitz

SummaryInherited antithrombin III (AT-II, heparin cofactor) deficiency is a rare condition, presenting with thrombotic disease in adult life. This paper reports an 8 months old South African Black male infant with multiple large vessel venous and arterial thromboses, and E. coli septicaemia. This was associated with an extremely low plasma AT-II level. Micronodular cirrhosis and intracytoplasmic hyaline globules in the liver cells were present. These globules were eosinophilic, and PAS-positive after diastase. They measured approximately 5 μ to 30 μ in diameter, occurred singly in the liver cells and were located mainly in the periportal areas. The histological findings in the liver are similar to those observed in α1-antitrypsin (AAT) deficiency in which the intracytoplasmic globules represent accumulation of altered AAT. Immunochemical studies carried out on formalin fixed tissue failed to detect cross reaction material with anti-α1 antitrypsin or anti-AT III antiserum. This is the first case report of AT-III deficiency presenting in infancy. It is also the first case associated with distinctive liver pathology.The available data presented are insufficient to distinguish between an inborn defect and acquired causes of the severely depressed AT-III plasma level and the distinctive liver pathology.


2012 ◽  
Vol 74 (5) ◽  
pp. 497-500
Author(s):  
Tomoko SAITO ◽  
Yuko USAGAWA ◽  
Akari TASHIRO ◽  
Yusuke ONO ◽  
Junko KITAJIMA ◽  
...  

Author(s):  
Giulia Spallone ◽  
Virginia Garofalo ◽  
Eliseo Picchi ◽  
Rossella Pitocco ◽  
Federico Bianchi ◽  
...  

2005 ◽  
Vol 102 (Special_Supplement) ◽  
pp. 262-265
Author(s):  
C. P. Yu ◽  
Joel Y. C. Cheung ◽  
Josie F. K. Chan ◽  
Samuel C. L. Leung ◽  
Robert T. K. Ho

Object. The authors analyzed the factors involved in determining prolonged survival (≥ 24 months) in patients with brain metastases treated by gamma knife surgery (GKS). Methods. Between 1995 and 2003, a total of 116 patients underwent 167 GKS procedures for brain metastases. There was no special case selection. Smaller and larger lesions were treated with different protocols. The mean patient age was 56.9 years, the mean number of initial lesions was 3.15, and the mean lesion volume was 10.45 cm.3 The mean follow-up time was 9.2 months. The median patient survival was 8.68 months. One-, 2-, 3-, 4-, and 5-year actuarial survival rates were 31.8%, 19.8%, 14.6%, 7.7%, and 6.9%, respectively. Patient age, number of lesions at presentation, and lesion volume had no influence on patient survival. Twenty-three (19.8%) patients survived for 24 months or more. Certain factors were associated with increased survival time. These were stable primary disease (21 of 23 patients), a long latency between diagnosis of the primary tumor and the occurrence of brain metastases (mean 28.4 months, median 16 months), absence of third-organ involvement, and repeated local procedures. Ten patients underwent repeated GKS (mean 3.4 per patient). Seven patients required open surgery for local treatment failures (recurrence or radiation necrosis). Two patients had both. Fifteen patients underwent repeated procedures. Conclusions. Aggressive local therapy with GKS, repeated GKS, and GKS plus surgery can achieve increased survival in a subgroup of patients with stable primary disease, no third-organ involvement, and long primary-brain secondary intervals.


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