Neuropediatrics 2012; 43 - PS13_06
DOI: 10.1055/s-0032-1307094

Bannayan-Riley-Ruvalcaba-syndrom – an unusual differential diagnosis of dilatated Virchow-Robin spaces

S Nebgen 1, K Zerres 2, U Deutz 1, M Wiesmann 3, M Häusler 1
  • 1Kinder- und Jugendmedizin, UK/RWTH Aachen, Aachen, Germany
  • 2Inst. für Humangenetik, UK/RWTH Aachen, Aachen, Germany
  • 3Diagnost. und Intervent. Neuroradiologie, UK/RWTH Aachen, Aachen, Germany

Aims: The Bannayan-Riley-Ruvalcaba syndrome is one presentation of PTEN gene mutations, similar to Cowdens disease. Main symptoms are macrocephaly, intestinal polyposis and pigmented maculae of the glans penis or the vulva. Vascular malformations are common.

Methods: Case report of one patient with additional unusual cerebral findings.

Results: First consultation at the age of 4 months because of macrocephaly (head circumference 46.7 cms, >>97. percentile), opisthotonus and poor head control. Whereas cranial ultrasound was normal, leukoencephalopathic changes were found on CCT und cMRI. Screening for metabolic diseases (carnitine, acyl-carnitine, phytanic acid, VLCFA, lactate, screen for mucopolysaccharidosis, CDG-symdrome), however, proved normal as did ophthalmological studies, skeletal x-rays, acoustically evoked potentials and nerve conduction studies.

At re-examination at the age of 9 years persisting macrocephaly and psychomotor retardation. A second brain MRI showed persistent leukoencephalopathy with dilated Virchow-Robin spaces. MR-spectroscopy was normal.

Abdominal ultrasound, performed at the age of 10 years showed splenic lesions. According to MRI these might correspond to angiolipomas, fibromas or desmoids. Physical reevaluation revealed pigmented maculae on the glans penis which finally led to the genetical diagnosis. During follow-up the lesions in the spleen disappeared spontaneously. No cardiac or thyroid abnormalities were detected.

Conclusion: PTEN gene mutations are a further differential diagnosis of congenitally enlarged Virchow-Robin spaces. Their cause is unknown, possibly these are related to the risk of developing vascular malformations.

The cause of the splenic lesions is not clear either. A malignancy is unlikely because of their spontaneous regression.

Clinical examination of the genitals may be of high diagnostic impact in diseases affecting both the skin and the brain.

Bannayan-Riley-Ruvalcaba syndrome - PTEN gene mutation - Virchow-Robin spaces