Abstract
Wyburn-Mason syndrome is a very rare neurocutaneous disorder characterized by unilateral arteriovenous malformations of the midbrain associated with vascular abnormalities of eye and optic pathways, as well as multiple cutaneous nevi, reddish-bluish in color. The co-occurrence of such anomalies can be explained by an embryonic anomaly occurring in common ancestor cells, with the more severe cases related to development errors in the very early phases of gestation. Central nervous system and vision may be severely impaired: affected individuals may present with acute headache, hemiplegia, and homonymous hemianopsia in half of the cases. Seizures, cerebellar dysfunction, acute psychiatric signs, hallucinations, and temporal/spatial disorientation are reported more rarely. A progressive mental illness can become evident later in up to 30% of cases. Surgical removal is indicated only in superficially located arteriovenous malformations, while nonsurgical strategies (i.e., embolization and radiation therapy) are indicated for most of the lesions and represent the gold standard option in the treatment of this syndrome.
| Original language | English |
|---|---|
| Pages (from-to) | 297-304 |
| Number of pages | 8 |
| Journal | Journal of Pediatric Neurology |
| Volume | 16 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - Jan 1 2018 |
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Keywords
- arteriovenous malformations
- Bonnet-Dechaume-Blanc syndrome
- midbrain
- retina
- review
- Wyburn-Mason syndrome
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology
Cite this
Wyburn-Mason Syndrome. / Tomarchio, Stefania; Portale, Anna; Praticò, Andrea D.; Catanzaro, Stefano; Polizzi, Agata; Belfiore, Giuseppe; Pirrone, Concetta; Schepis, Carmelo; Commodari, Elena; Praticò, Elena R.; Zanghì, Antonio; Ruggieri, Martino; Konez, Orhan.
In: Journal of Pediatric Neurology, Vol. 16, No. 5, 01.01.2018, p. 297-304.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Wyburn-Mason Syndrome
AU - Tomarchio, Stefania
AU - Portale, Anna
AU - Praticò, Andrea D.
AU - Catanzaro, Stefano
AU - Polizzi, Agata
AU - Belfiore, Giuseppe
AU - Pirrone, Concetta
AU - Schepis, Carmelo
AU - Commodari, Elena
AU - Praticò, Elena R.
AU - Zanghì, Antonio
AU - Ruggieri, Martino
AU - Konez, Orhan
PY - 2018/1/1
Y1 - 2018/1/1
N2 - Wyburn-Mason syndrome is a very rare neurocutaneous disorder characterized by unilateral arteriovenous malformations of the midbrain associated with vascular abnormalities of eye and optic pathways, as well as multiple cutaneous nevi, reddish-bluish in color. The co-occurrence of such anomalies can be explained by an embryonic anomaly occurring in common ancestor cells, with the more severe cases related to development errors in the very early phases of gestation. Central nervous system and vision may be severely impaired: affected individuals may present with acute headache, hemiplegia, and homonymous hemianopsia in half of the cases. Seizures, cerebellar dysfunction, acute psychiatric signs, hallucinations, and temporal/spatial disorientation are reported more rarely. A progressive mental illness can become evident later in up to 30% of cases. Surgical removal is indicated only in superficially located arteriovenous malformations, while nonsurgical strategies (i.e., embolization and radiation therapy) are indicated for most of the lesions and represent the gold standard option in the treatment of this syndrome.
AB - Wyburn-Mason syndrome is a very rare neurocutaneous disorder characterized by unilateral arteriovenous malformations of the midbrain associated with vascular abnormalities of eye and optic pathways, as well as multiple cutaneous nevi, reddish-bluish in color. The co-occurrence of such anomalies can be explained by an embryonic anomaly occurring in common ancestor cells, with the more severe cases related to development errors in the very early phases of gestation. Central nervous system and vision may be severely impaired: affected individuals may present with acute headache, hemiplegia, and homonymous hemianopsia in half of the cases. Seizures, cerebellar dysfunction, acute psychiatric signs, hallucinations, and temporal/spatial disorientation are reported more rarely. A progressive mental illness can become evident later in up to 30% of cases. Surgical removal is indicated only in superficially located arteriovenous malformations, while nonsurgical strategies (i.e., embolization and radiation therapy) are indicated for most of the lesions and represent the gold standard option in the treatment of this syndrome.
KW - arteriovenous malformations
KW - Bonnet-Dechaume-Blanc syndrome
KW - midbrain
KW - retina
KW - review
KW - Wyburn-Mason syndrome
UR - http://www.scopus.com/inward/record.url?scp=85054536697&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85054536697&partnerID=8YFLogxK
U2 - 10.1055/s-0038-1667133
DO - 10.1055/s-0038-1667133
M3 - Review article
VL - 16
SP - 297
EP - 304
JO - Journal of Pediatric Neuroradiology
JF - Journal of Pediatric Neuroradiology
SN - 1304-2580
IS - 5
ER -