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[Cranioencephalic cutaneous angiofibromatosis]
M Nieto1, L Ruiz del Portal, E Garrido
1Sección de Neuropediatría, Hospital Infantil Universitario Virgen del Rocío, Sevilla, España.
Insights
This case study details a rare encephalocraniocutaneous angiofibromatosis presentation in a child, highlighting complex neurological and skin findings. The study explores its potential classification as a tuberous sclerosis variant or a novel neurocutaneous syndrome.
Area of Science:
- Neuroscience
- Dermatology
- Genetics
Background:
- Presents a rare case of encephalocraniocutaneous angiofibromatosis (ECC), a complex neurocutaneous syndrome.
- Child exhibited infantile spasms, partial seizures, hemiparesis, and distinctive skin lesions including angiofibromas and cafe-au-lait spots.
Abstract:
A nine year old girl with no significant prenatal or perinatal history had presented, at the age of four months, with infantile spasms and later with partial crises with or without secondary generalization. On examination there was left hemiparesis and various skin lesions: a pink plaque in the frontal region with hair loss, fibrous plaques on the right side of the face and hypomelanic spots on the trunk and thighs and some cafe-au-lait spots on the thorax and abdomen. On neuroimaging by CT and MR right cerebral hemiatrophy, periventricular calcifications and lesions in the right hemisphere were seen. On AMR an angioma was seen on the anterior communicating artery. A skin biopsy of the frontal plaque showed perifollicular fibromatosis with marked vascular proliferation. We discuss whether the presentation of this case of encephalocraneo-cutaneous angiofibromatosis is a new phenotype of tuberose sclerosis or a new neurocutaneous syndrome.