Although neurofibromatosis type 1 (NF-1) is commonly considered neurocutaneous, severe arterial and venous abnormalities have been noted. Our patient, a 28-year-old woman, had bilateral giant extracranial aneurysms of the internal carotid arteries as well as skull base meningoceles involving the jugular foramina and aberrant jugular veins. CT and MR imaging, as well as digital subtraction and/o...

Neurocutaneous melanosis is a rare congenital disorder which presents with congenital cutaneous nevi and involvement of the central nervous system. We herein present a rare case of a 2-year-old girl who had central nervous system melanosis and giant congenital melanocytic nevi. Magnetic resonance imaging, especially precontrast T1 images play a crucial role in making the diagnosis combined with...

BACKGROUND Klippel-Trenaunay-Weber Syndrome (KTWS) is a rare neurocutaneous syndrome. Hemimegalencephaly (HME) and seizure episodes have been reported previously in a few cases with KTWS. CASE PRESENTATION We report here a 3 day-old girl with partial motor seizures, extensive port-wine staining and mild structural deformities in the feet, and a hemimegalencephaly. CONCLUSION Occurrence of p...

Neurocutaneous melanosis is a rare disease belonging to the group of phakomatoses, characterized by presence giant melanocytic nevi on skin and infiltration parenchyma meninges, as well high risk neurological complications malignancy. Purpose - analyze information modern specialized literature etiology, pathogenesis, approaches diagnosis treatment orphan neurocutaneous (Rokitansky's disease) de...

Parry-Romberg syndrome is a rare neurocutaneous disorder of unknown origin. It is characterized by progressive facial hemiatrophy and frequently overlaps with a condition known as linear scleroderma 'en coup de sabre'. Neurological involvement is frequently described in these patients, including migraine, facial pain and epilepsy, which represent the commonest neurological conditions, sometimes...

Epidermal nevus syndrome is a rare congenital disorder, characterized by epidermal nevi and multiple organ involvement. Multicystic kidney disease has been very rarely reported in this syndrome. Here is the report of a boy presented with multiple epidermal nevi, cardiac anomaly, seizure attack, hemi hypertrophy, and multicystic dysplastic kidney complicated with Wilms' tumor. According to this ...

The discovery of either a dermatomal cutaneous nevus or a spinal arteriovenous malformation (AVM) should raise the suspicion of Cobb syndrome. The Cobb syndrome is a neurocutaneous syndrome in which there are metameric cutaneous and spinal AVMs. The authors present the case of a patient with acute cervical myelopathy and subtle cutaneous hemangiomas in whom a cervical perimedullary fistula was ...

Tuberous sclerosis complex (TSC) manifests predominantly as a neurocutaneous disorder. Lymphangioleiomyomatosis (LAM) is a rare pulmonary manifestation of TSC. Imaging evaluation plays an important role in the assessment of patients with tuberous sclerosis complex. In newly diagnosed patients, it helps not only to confirm the diagnosis of TSC, but also helps in identifying clinically significan...