Abstract
Hereditary hemorrhagic teleangiectasia (HHT, Osler-Rendu-Weber disease) is an autosomal dominantly inherited disorder caused by the mutation of several possible genes and characterized by malformations of the arteriovenous system in multiple organs. The clinical diagnosis is based on the Curagao criteria ((1) spontaneous, recurrent epistaxis; (2) teleangiectasias in characteristic sites (lips, oral cavity, nose, fingers); (3) visceral lesions (gastrointestinal, pulmonary, cerebral, spinal); (4) affected first degree relative). The aim of this study is to present the first genetically confirmed Hungarian case of hereditary hemorrhagic teleangiectasia with multiple ischemic strokes. Our 70-year-old woman has been suffering from severe epistaxis since her childhood and presented gastrointestinal bleeding during her adulthood as well. The characteristic skin lesions developed in the 5th decade of life. She was admitted to our department with loss of consciousness and fluctuating speech and swallowing problems. MRI of the brain supplemented with angiography revealed multiple arteriovenous malformations and multiple subacute ischemic lesions. The EEG demonstrated slowing of electric activity in the left frontal lobe. The neuropsychological assessment showed deficits in anterograde memory and executive functions. The diagnostic work-up for other characteristic alterations identified an arteriovenous malformation in the left lung. The genetic analysis demonstrated a heterozygous mutation in the 7th exon of the ENG gene at position 834 resulting in a thymine duplication and an early stop codon by a frame shift. The present case is largely similar to those already described in literature and draws the attention to the importance of multidisciplinary collaboration in the care of HHT patients.
| Original language | Hungarian |
|---|---|
| Pages (from-to) | 65-70 |
| Number of pages | 6 |
| Journal | Ideggyogyaszati szemle |
| Volume | 72 |
| Issue number | 1-2 |
| DOIs | |
| Publication status | Published - Jan 30 2019 |
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ASJC Scopus subject areas
- Neurology
- Clinical Neurology
Cite this
Multiplex ischaemiás stroke osler-rendu-weber-kórban. / Salamon, András; Faragó, Péter; Németh, Viola Luca; Szépfalusi, Noémi; Horváth, Emese; Vass, Andrea; Bereczky, Z.; Tajti, J.; Vécsei, L.; Klivényi, P.; Zádori, Dénes.
In: Ideggyogyaszati szemle, Vol. 72, No. 1-2, 30.01.2019, p. 65-70.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Multiplex ischaemiás stroke osler-rendu-weber-kórban
AU - Salamon, András
AU - Faragó, Péter
AU - Németh, Viola Luca
AU - Szépfalusi, Noémi
AU - Horváth, Emese
AU - Vass, Andrea
AU - Bereczky, Z.
AU - Tajti, J.
AU - Vécsei, L.
AU - Klivényi, P.
AU - Zádori, Dénes
PY - 2019/1/30
Y1 - 2019/1/30
N2 - Hereditary hemorrhagic teleangiectasia (HHT, Osler-Rendu-Weber disease) is an autosomal dominantly inherited disorder caused by the mutation of several possible genes and characterized by malformations of the arteriovenous system in multiple organs. The clinical diagnosis is based on the Curagao criteria ((1) spontaneous, recurrent epistaxis; (2) teleangiectasias in characteristic sites (lips, oral cavity, nose, fingers); (3) visceral lesions (gastrointestinal, pulmonary, cerebral, spinal); (4) affected first degree relative). The aim of this study is to present the first genetically confirmed Hungarian case of hereditary hemorrhagic teleangiectasia with multiple ischemic strokes. Our 70-year-old woman has been suffering from severe epistaxis since her childhood and presented gastrointestinal bleeding during her adulthood as well. The characteristic skin lesions developed in the 5th decade of life. She was admitted to our department with loss of consciousness and fluctuating speech and swallowing problems. MRI of the brain supplemented with angiography revealed multiple arteriovenous malformations and multiple subacute ischemic lesions. The EEG demonstrated slowing of electric activity in the left frontal lobe. The neuropsychological assessment showed deficits in anterograde memory and executive functions. The diagnostic work-up for other characteristic alterations identified an arteriovenous malformation in the left lung. The genetic analysis demonstrated a heterozygous mutation in the 7th exon of the ENG gene at position 834 resulting in a thymine duplication and an early stop codon by a frame shift. The present case is largely similar to those already described in literature and draws the attention to the importance of multidisciplinary collaboration in the care of HHT patients.
AB - Hereditary hemorrhagic teleangiectasia (HHT, Osler-Rendu-Weber disease) is an autosomal dominantly inherited disorder caused by the mutation of several possible genes and characterized by malformations of the arteriovenous system in multiple organs. The clinical diagnosis is based on the Curagao criteria ((1) spontaneous, recurrent epistaxis; (2) teleangiectasias in characteristic sites (lips, oral cavity, nose, fingers); (3) visceral lesions (gastrointestinal, pulmonary, cerebral, spinal); (4) affected first degree relative). The aim of this study is to present the first genetically confirmed Hungarian case of hereditary hemorrhagic teleangiectasia with multiple ischemic strokes. Our 70-year-old woman has been suffering from severe epistaxis since her childhood and presented gastrointestinal bleeding during her adulthood as well. The characteristic skin lesions developed in the 5th decade of life. She was admitted to our department with loss of consciousness and fluctuating speech and swallowing problems. MRI of the brain supplemented with angiography revealed multiple arteriovenous malformations and multiple subacute ischemic lesions. The EEG demonstrated slowing of electric activity in the left frontal lobe. The neuropsychological assessment showed deficits in anterograde memory and executive functions. The diagnostic work-up for other characteristic alterations identified an arteriovenous malformation in the left lung. The genetic analysis demonstrated a heterozygous mutation in the 7th exon of the ENG gene at position 834 resulting in a thymine duplication and an early stop codon by a frame shift. The present case is largely similar to those already described in literature and draws the attention to the importance of multidisciplinary collaboration in the care of HHT patients.
KW - Arteriovenous malformation
KW - Hereditary hemorrhagic teleangiectasia
KW - Osler-Rendu-Weber disease
UR - http://www.scopus.com/inward/record.url?scp=85061860251&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85061860251&partnerID=8YFLogxK
U2 - 10.18071/isz.72.0065
DO - 10.18071/isz.72.0065
M3 - Article
C2 - 30785249
AN - SCOPUS:85061860251
VL - 72
SP - 65
EP - 70
JO - Ideggyogyaszati Szemle
JF - Ideggyogyaszati Szemle
SN - 0019-1442
IS - 1-2
ER -