Wallenberg syndrome: small lesion – big clinical picture!

2021 ◽  
Author(s):  
Svjetlana Jefic
Keyword(s):  
Clinical Picture ◽  
Small Lesion ◽  
Wallenberg Syndrome

Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

1992 ◽  
Vol 50 (1) ◽  
pp. 632-633
Author(s):  
Line Buhl ◽  
David Muirhead
Keyword(s):  
Mental Retardation ◽  
Clinical Picture ◽  
Neurological Disorder ◽  
Clinical Presentation ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Lysosomal Disease ◽  
Juvenile Form ◽  
Progressive Encephalopathy ◽  
Lysosomal Diseases

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.

Wilsons Disease Presenting with the Clinical Picture of Haemolytic-Uremic Syndrome

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

Case Report: Patient with POLG Mutation with the Clinical Picture of a Myocerebrohepatopathy Syndrome

2015 ◽  
Vol 46 (S 01) ◽  
Author(s):  
J. Spiegler ◽  
Y. Hellenbroich ◽  
U. Ahting ◽  
P. Freisinger
Keyword(s):  
Case Report ◽  
Clinical Picture ◽  
Polg Mutation

Aromatic L-amino acid decarboxylase deficiency: Clinical picture, laboratory finding and medical treatment

2008 ◽  
Vol 39 (01) ◽  
Author(s):  
C Manegold ◽  
F Hörster ◽  
I Degen ◽  
H Ikonomidou ◽  
A Knust ◽  
...  
Keyword(s):  
Amino Acid ◽  
Medical Treatment ◽  
Clinical Picture ◽  
Laboratory Finding ◽  
Acid Decarboxylase ◽  
Amino Acid Decarboxylase ◽  
Decarboxylase Deficiency

Evaluation of pre-operative clinical finding and per-operative assessment of carcinoma stomach in tertiary settings of Bangladesh

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 ◽  
...  
Keyword(s):  
Lymph Node ◽  
Clinical Picture ◽  
Preoperative Evaluation ◽  
Lymph Node Involvement ◽  
Lesion Detection ◽  
Clinical Feature ◽  
P Value ◽  
Operative Finding ◽  
Node Involvement ◽  
Carcinoma Stomach

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

AN UNUSUAL CASE OF EXOPHTHALMOS WITH GENERAL CONNECTIVE TISSUE CHANGES

1960 ◽  
Vol XXXIII (IV) ◽  
pp. 613-622 ◽  
Author(s):  
B.-A. Lamberg ◽  
O. Wegelius ◽  
B. Kuhlbäck ◽  
C. Olin-Lamberg
Keyword(s):  
Renal Failure ◽  
Connective Tissue ◽  
Beneficial Effect ◽  
Muscle Tissue ◽  
Clinical Picture ◽  
Unusual Case ◽  
Systemic Treatment ◽  
Nasal Epithelium ◽  
Tissue Changes ◽  
Histochemical Examination

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.

Unique clinical picture in patients with X-linked acrogigantism

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

CANVAS is a common form of late-onset hereditary ataxia

2020 ◽  
pp. 51-52
Author(s):  
Е.П. Нужный ◽  
Н.Ю. Абрамычева ◽  
Е.Г. Воробьева ◽  
Е.О. Иванова ◽  
Ю.А. Шпилюкова ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Clinical Picture ◽  
Autosomal Recessive ◽  
Late Onset ◽  
Repeat Expansion ◽  
Hereditary Ataxia ◽  
Recessive Ataxia ◽  
Autosomal Recessive Ataxia

Синдром CANVAS (мозжечковая атаксия, невропатия и вестибулярная арефлексия) - аутосомно-рецессивная атаксия с поздним дебютом, обусловленная носительством биаллельной экспансии (AAGGG)n во 2-м интроне гена RFC1. До настоящего момента отсутствуют сведения о распространенности данного заболевания в российских семьях. Нами был проведен поиск биаллельной экспансии AAGGG-повторов у 35 российских пациентов с поздней мозжечковой атаксией. Верифицированы 5 пациентов (14,3%) с синдромом CANVAS и характерной клинической картиной. CANVAS (cerebellar ataxia, neuropathy and vestibular areflexia) is a late-onset autosomal recessive ataxia due to biallelic (AAGGG)n repeat expansion in the 2nd intron of the RFC1 gene. There is no information on the CANVAS prevalence in Russian families. We searched for biallelic expansion of AAGGG repeats in 35 Russian patients with late-onset cerebellar ataxia. Five patients (14.3%) with CANVAS syndrome and a characteristic clinical picture were verified.

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