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

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.

Download Full-text

Faculty Opinions recommendation of Pial synangiosis in patients with moyamoya syndrome and sickle cell anemia: perioperative management and surgical outcome.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1158676.618888 ◽

2009 ◽

Author(s):

Fenella Kirkham

Keyword(s):

Sickle Cell ◽

Sickle Cell Anemia ◽

Surgical Outcome ◽

Perioperative Management ◽

Moyamoya Syndrome

Download Full-text

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

Italian Journal of Pediatrics ◽

10.1186/s13052-021-01004-9 ◽

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.

Download Full-text