scholarly journals RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome

2021 ◽  
Author(s):  
Giulia Romanisio ◽  
Cristina Chelleri ◽  
Marcello Scala ◽  
Gianluca Piccolo ◽  
Barbara Carlini ◽  
...  
Keyword(s):  
Moyamoya Syndrome ◽  
Legius Syndrome

Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?

2020 ◽  
Vol 185 (1) ◽  
pp. 223-227
Author(s):  
Lisa Pabst ◽  
Jennifer Carroll ◽  
Warren Lo ◽  
Kristen V. Truxal
Keyword(s):  
Moyamoya Syndrome ◽  
Legius Syndrome

Legius Syndrome Can Be Easily Misdiagnosed as NF1

2011 ◽  
Vol 45 (1) ◽  
pp. 12
Author(s):  
BRUCE JANCIN
Keyword(s):  
Legius Syndrome

Moyamoya Syndrome in a Child with β-Thalassemia Major

2020 ◽  
Vol 18 (04) ◽  
pp. 214-216
Author(s):  
Soumya Roy
Keyword(s):  
Magnetic Resonance ◽  
Cerebrovascular Accident ◽  
Muscle Wasting ◽  
Thalassemia Major ◽  
Blood Transfusions ◽  
Moyamoya Syndrome ◽  
Magnetic Resonance Angiogram ◽  
Joint Contractures ◽  
Gradual Development ◽  
The Right

AbstractA 9-year-old girl patient presented with left-sided weakness and joint contractures developing over a period of 18 months. She was known to be suffering from β-thalassemia major and was on regular blood transfusions. Eighteen months ago, she had suffered from an episode of ischemic cerebrovascular accident affecting the right side of her brain. Magnetic resonance angiogram revealed vaso-occlusive disease affecting mainly the anterior cerebral circulation, resembling Moyamoya disease. She was advised to carry out regular physiotherapy but her parents discontinued it, which resulted in the gradual development of joint contractures and muscle wasting.

scholarly journals Central precocious puberty in a girl with LEGIUS syndrome: an accidental association?

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Valentina Orlandi ◽  
Paolo Cavarzere ◽  
Laura Palma ◽  
Rossella Gaudino ◽  
Franco Antoniazzi
Keyword(s):  
Genetic Analysis ◽  
Precocious Puberty ◽  
Central Precocious Puberty ◽  
Neurofibromatosis Type ◽  
Case Presentation ◽  
New Variant ◽  
Legius Syndrome ◽  
Timing Of Puberty ◽  
First Time

Abstract Background Central precocious puberty is a condition characterized by precocious activation of the hypothalamic-pituitary-gonadal axis. It may be idiopathic or secondary to organic causes, including syndromes such as Neurofibromatosis type 1 (NF1). Case presentation We presented a girl of 6 years and 10 months with almost 11 café-au-lait skin macules, without other clinical or radiological signs typical of NF1, and with a central precocious puberty. Genetic analysis evidenced the new variant NM-152594.2:c.304delAp. (Thr102Argfs*19) in SPRED1 gene, which allowed to diagnose Legius syndrome. Conclusions We report for the first time a case of central precocious puberty in a girl with Legius syndrome. The presence of central precocious puberty in a child with characteristic café-au-lait macules should suggest pediatricians to perform genetic analysis in order to reach a definitive diagnosis. Further studies on timing of puberty in patients with RASopathies are needed to better elucidate if this clinical association is casual or secondary to their clinical condition.

Moyamoya Syndrome Associated With Congenital Heart Disease

PEDIATRICS ◽  
1998 ◽  
Vol 101 (1) ◽  
pp. 57-60 ◽  
Author(s):  
Joel Lutterman ◽  
Michael Scott ◽  
Ruth Nass ◽  
Tal Geva
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Moyamoya Syndrome

Severe chorea revealing a large precerebral vessels vasculopathy with Moyamoya syndrome

2017 ◽  
Vol 21 ◽  
pp. e26-e27
Author(s):  
F. Bastos ◽  
A. Theodoropoulou ◽  
E. Roulet-Perez ◽  
S. Lebon
Keyword(s):  
Moyamoya Syndrome

scholarly journals Efficacy of Revascularization Surgery for Moyamoya Syndrome Associated With Graves' Disease

2010 ◽  
Vol 50 (11) ◽  
pp. 977-983 ◽  
Author(s):  
Hidenori ENDO ◽  
Miki FUJIMURA ◽  
Kuniyasu NIIZUMA ◽  
Hiroaki SHIMIZU ◽  
Teiji TOMINAGA
Keyword(s):  
Graves Disease ◽  
Moyamoya Syndrome ◽  
Revascularization Surgery
Sign in / Sign up

Export Citation Format

Share Document