Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia

2012 ◽  
Vol 60 (5) ◽  
pp. 836-841 ◽  
Author(s):  
Ayami Yoshimi ◽  
Yoshiro Kamachi ◽  
Kosuke Imai ◽  
Nobuhiro Watanabe ◽  
Hisaya Nakadate ◽  
...  
Author(s):  
Line Buhl ◽  
David Muirhead

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.


2000 ◽  
Vol 109 (3) ◽  
pp. 673-673 ◽  
Author(s):  
A. Matzdorff ◽  
B. Kemkes-Matthes ◽  
H. Pralle

2002 ◽  
Vol 41 (3) ◽  
pp. 203-207
Author(s):  
Friedrich B. ◽  
Schröder C. ◽  
Stenger R. ◽  
Findeisen A. ◽  
Lauffer H.

2015 ◽  
Vol 46 (S 01) ◽  
Author(s):  
J. Spiegler ◽  
Y. Hellenbroich ◽  
U. Ahting ◽  
P. Freisinger

1996 ◽  
Vol 75 (04) ◽  
pp. 546-550 ◽  
Author(s):  
Marianne Schwartz ◽  
Albert Békássy ◽  
Mikael Donnér ◽  
Thomas Hertel ◽  
Stefan Hreidarson ◽  
...  

SummaryTwelve different mutations in the WASP gene were found in twelve unrelated families with Wiskott-Aldrich syndrome (WAS) or X-linked thrombocytopenia (XLT). Four frameshift, one splice, one nonsense mutation, and one 18-base-pair deletion were detected in seven patients with WAS. Only missense mutations were found in five patients diagnosed as having XLT. One of the nucleotide substitutions in exon 2 (codon 86) results in an Arg to Cys replacement. Two other nucleotide substitutions in this codon, R86L and R86H, have been reported previously, both giving rise to typical WAS symptoms, indicating a mutational hot spot in this codon. The finding of mutations in the WASP gene in both WAS and XLT gives further evidence of these syndromes being allelic. The relatively small size of the WASP gene facilitates the detection of mutations and a reliable diagnosis of both carriers and affected fetuses in families with WAS or XLT.


2020 ◽  
Vol 22 (1) ◽  
pp. 43-46
Author(s):  
Mst Jesmen Nahar ◽  
Md Mahiuddin Matubber ◽  
Md Mahbubur Rahman ◽  
Md Mahbubur Rahman ◽  
Syed Muhammad Baqul Billah ◽  
...  

Background: Carcinoma stomach, a major killer cancer all over the world, is still presenting late in developing countries due to delay in early diagnosis, lack of awareness, infrastructure etc. Objectives: To establish the importance of preoperative evaluation on operability of carcinoma stomach. Methods: Sixty clinically and histopathologically diagnosed ca stomach cases who underwent surgery in department of Bangabandhu Sheikh Mujib Medical University, Dhaka, and Dhaka Medical College Hospital, Dhaka in 2011 were assessed with clinical picture, investigations, preoperative evaluation and peroperative findings were recorded. Z test for proportion was used to assess clinical decision predictability with a p value of :s;0.05 as significant. Results: Male (73.33%) predominant with 2.75:1 male:female ratio was observed. Mobility, fixity and abdominal lymphadenopathy were not well detected through clinical assessment (p=0.001) while ascites, metastasis and Shelf of Slummer were similar in both clinical and operative finding. The endoscopy of upper GIT finding gave a unique picture as the findings were almost same as were found during operation. USG detected a lesser proportion of the clinical condition compared to peroperative condition whereas CT performed better than the USG except for the lesion detection. Though Computed Tomography (CT) detected higher percentage of lesion, metastasis, ascites and lymph node involvement compared to ultrasonogram (USG), it was significantly higher only for lesion detection (p=0.002) and lymph node involvement (p=<0.001). In the similar manner USG assessment of lesion detection (p=<0.001) and lymph node involvement (p=0.003) was significantly low compared to operative finding. When we looked between CT and operative finding only lesion detection was significantly low (p=0.01) indicating CT to be most effective predictor of clinical picture for operative decision. Preoperative plan were mostly not in accordance with peroperative decision except for total gastrectomy. Conclusion: The study indicates weakness in clinical detection and pre-operative plan compared to per-operative finding. Hence combination of clinical feature and investigation tools especially endoscopy of upper GIT combined with CT is recommended to predict a better operative decision. Journal of Surgical Sciences (2018) Vol. 22 (1): 43-46


1960 ◽  
Vol XXXIII (IV) ◽  
pp. 613-622 ◽  
Author(s):  
B.-A. Lamberg ◽  
O. Wegelius ◽  
B. Kuhlbäck ◽  
C. Olin-Lamberg

ABSTRACT A case is described of a man of 48, who presented a history and clinical picture of a solitary thyro-hypophysial syndrome with malignant exophthalmos but in which general connective tissue changes were found on histological and histochemical examination of the retrobulbar connective tissue and muscles, of the pretibial connective and muscle tissue and the nasal epithelium. The intraocular tension was increased. In addition, renal failure developed. The use of cortisol locally in the eyes had a beneficial effect on the eye syndrome. Systemic treatment with corticotrophin and prednisolone had an evident beneficial effect on the renal condition.


2015 ◽  
Author(s):  
Donato Iacovazzo ◽  
Sian Jose ◽  
Benjamin Bunce ◽  
Richard Caswell ◽  
Laura Cristina Hernandez-Ramirez ◽  
...  
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