Vestibular paroxysmia: clinical features and imaging findings; a literature review

Author(s):  
Andreas Karamitros ◽  
Theodosios Kalamatianos ◽  
Georgios Stranjalis ◽  
Evangelos Anagnostou
2019 ◽  
Vol 51 (01) ◽  
pp. 049-052
Author(s):  
Benedikt Hofmeister ◽  
Celina von Stülpnagel ◽  
Steffen Berweck ◽  
Angela Abicht ◽  
Gerhard Kluger ◽  
...  

AbstractNicolaides–Baraitser syndrome (NCBRS) is a rare disease caused by a mutation in the SMARCA2 gene. Clinical features include craniofacial dysmorphia and abnormalities of the limbs, as well as intellectual disorder and often epilepsy. Hepatotoxicity is a rare complication of the therapy with valproic acid (VPA) and a mutation of the polymerase γ (POLG) might lead to a higher sensitivity for liver hepatotoxicity. We present a patient with the coincidence of two rare diseases, the NCBRS and additionally a POLG1 mutation in combination with a liver hepatotoxicity. The co-occurrence in children for two different genetic diseases is discussed with the help of literature review.


Author(s):  
Mohammed Saleh ◽  
Priya Bhosale ◽  
Christine O. Menias ◽  
Preetha Ramalingam ◽  
Corey Jensen ◽  
...  

Cephalalgia ◽  
2010 ◽  
Vol 30 (11) ◽  
pp. 1329-1335 ◽  
Author(s):  
Yen-Chi Yeh ◽  
Jong-Ling Fuh ◽  
Shih-Pin Chen ◽  
Shuu-Jiun Wang

Objectives: To study the clinical profiles, imaging findings and outcomes and field test the diagnostic criteria proposed by the International Classification of Headache Disorders, 2nd edition (ICHD-II) in patients with headache associated with sexual activity (HSA). Methods: We recruited 30 patients (16 men, 14 women, mean age at onset 40.2 ± 10.0 years) with headache associated with sexual activity at a headache clinic from 2004 to 2009. None of the patients had neurological deficits at onset. Results: Twenty patients (67%) had secondary causes, including one subarachnoid hemorrhage, one basilar artery dissection, and 18 cases reversible cerebral vasoconstriction syndrome (RCVS). Ten patients (33%) had primary HSA. The demographics, headache profiles, drug response and clinical course were similar between primary and secondary HSA. Compared to prior studies done in Western societies, our patients had similar clinical features but with a higher ratio of females (50%) and a higher frequency of chronic course (39%). Discussion: Sixty-seven percent of patients with RCVS could not fulfill the criteria of reversible angiopathy of the central nervous system (Code 6.7.3) proposed by the ICHD-II. The most common reason was headache resolution in more than two months. In addition, 40% of patients with primary HSA could not fulfill the ICHD-II criteria for primary HSA (Code 4.4). Conclusions: Our study found that intracranial vascular disorders were very common in patients with HSA. Thorough neurovascular imaging is required for all patients with HSA.


2013 ◽  
Vol 88 (4) ◽  
pp. 578-584 ◽  
Author(s):  
Amanda Rodrigues Miranda ◽  
Ana Paula Fusel de Ue ◽  
Dominique Vilarinho Sabbag ◽  
Wellington de Jesus Furlani ◽  
Patricia Karla de Souza ◽  
...  

In this article, three cases of hereditary angioedema (HAE) type III (estrogen-dependent or with normal C1 inhibitor) are reported. The HAE was initially described in women of the same family in association with high-leveled estrogenic conditions such as the use of oral contraceptives and pregnancy. There is no change in the C1 inhibitor as happens in other types of hereditary angioedema, and mutations are observed in the encoding gene of the XII factor of coagulation in several patients. The current diagnosis is mainly clinical and treatment consists in the suspension of the triggering factors and control of acute symptoms. A brief review of physiopathology, clinical features, genetic alterations and treatment are also presented.


2019 ◽  
Vol 27 ◽  
pp. 289-293 ◽  
Author(s):  
Thomas Mathew ◽  
Amrutha Avati ◽  
Delon D’Souza ◽  
Manjusha Therambil ◽  
Anita Angela Baptist ◽  
...  

2011 ◽  
Vol 78 (1) ◽  
pp. 104-111 ◽  
Author(s):  
Najoua Ben Khedher ◽  
Julie David ◽  
Isabelle Trop ◽  
Suzanne Drouin ◽  
Laurence Peloquin ◽  
...  

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