A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review

2015 ◽  
Vol 55 (9) ◽  
pp. 1040-1043 ◽  
Author(s):  
Mehdi Iskandarli ◽  
Banu Yaman ◽  
Asli Aslan
Keyword(s):  
Author(s):  
Taynara de Mattos Barreto ◽  
Rita Fernanda Cortez de Almeida ◽  
Paulo Müller Ramos ◽  
Thiago Jeunon ◽  
Daniel Fernandes Melo

2008 ◽  
Vol 2 (3) ◽  
pp. 62-64 ◽  
Author(s):  
Mahesh Goel ◽  
Archna Agnihotri

ABSTRACT A Idiopathic isolated hypoglossal nerve palsy is an extremely rare condition. Presented here is a case report of self limiting IHNP on the basis of clinical finding and criteria of exclusion as all the investigations including ultrasound were negative. The patient is on speech therapy and is being actively rehabilitated.


Author(s):  
Marie Tominaga ◽  
Kyoko Morikawa ◽  
Yutaro Ogawa ◽  
Naomi Kamimura ◽  
Ikunosuke Tsuneki ◽  
...  

This clinical image presents an unusual report of simultaneous laparoscopic resection of a hydrocele of the canal of Nuck and an ovarian tumor. Laparoscopic treatment with a proper approach is a useful technique in some cases.


PEDIATRICS ◽  
1983 ◽  
Vol 71 (4) ◽  
pp. 673-674
Author(s):  
JOHN C. LEONIDAS ◽  
ANNA BINKIEWICZ ◽  
R. MICHAEL SCOTT ◽  
STEPHEN G. PAUKER

In Reply.— We appreciate the thoughtful comments of Leventhal and Lembo and concur with their conclusion that the clinician needs to know "the probability of skull fracture in a patient with head trauma." Unfortunately, their proposed "clinical likelihood ratio" (CR) will not further that end because it compares the predictive value (or, more precisely, the posterior probability) of a skull fracture after a positive clinical finding to the posterior probability after a negative finding. After the patient has been examined, the patient does not have both findings; thus, the CR cannot apply to the individual patient.


2012 ◽  
Vol 19 (3) ◽  
pp. 103 ◽  
Author(s):  
Dong-Eun Shin ◽  
Chang-Soo Ahn ◽  
Duck-Yun Cho ◽  
Hyung-Ku Yoon ◽  
Tae-Hyung Kim ◽  
...  

2006 ◽  
Vol 92 (2) ◽  
pp. 181-184 ◽  
Author(s):  
Murat Caloglu ◽  
Kazim Uygun ◽  
Semsi Altaner ◽  
Cem Uzal ◽  
Zafer Kocak ◽  
...  

Skin metastasis from nasopharyngeal carcinoma is a rare clinical finding. The most common form of appearance is a few solitary skin nodules. However, massive and extensive nodular dissemination or diffuse dermal lymphatic infiltration is extremely rare. We here present a case of a 40-year-old man with widespread nodular skin metastases from undifferentiated nasopharyngeal carcinoma.


2008 ◽  
Vol 53 (4) ◽  
pp. 1-5
Author(s):  
A Kamha

We report a patient with epilepsia partialis continua (EPC) associated with non ketotic hyperosmolar hyperglycemia. EPC is uncommon presenting clinical finding during nonketotic hyperglycemia. This case was reported in Medical Intensive Care Unit (MICU) in Hamad Medical Corporation, Doha, Qatar.


2018 ◽  
Vol 33 (8) ◽  
pp. 525-527 ◽  
Author(s):  
Cole J. Swiston ◽  
David L. Nash

Allan-Herndon-Dudley syndrome is a rare X-linked neurologic condition caused by mutations in monocarboxylate transporter 8 ( MCT8), which leads to deficient thyroid hormone transport. Typical features include severe cognitive impairment, truncal hypotonia, spastic paraplegia, weakness, and speech difficulties. Minimal literature exists describing the ocular findings in patients with Allan-Herndon-Dudley syndrome. We describe 4 male siblings affected with Allan-Herndon-Dudley syndrome with a novel nonsense mutation (Q90X) in the MCT8 protein. All affected siblings presented with classic findings of Allan-Herndon-Dudley syndrome, and each of the siblings also developed intermittent esotropia. This group of affected siblings represents the first consistent documentation of strabismus in Allan-Herndon-Dudley syndrome, suggesting a possible association between this clinical finding and the neurologic syndrome.


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