Neuropediatrics 2012; 43 - PS15_04
DOI: 10.1055/s-0032-1307113

Encephalocraniocutaneous lipomatosis (ECCL) – a case report

S Karch 1, U Kotzaeridou 1, A Seitz 2, K Rohrschneider 3, M Engel 4, J Pietz 1, U Moog 5
  • 1Zentrum für Kinder- und Jugendmedizin, Neuropädiatrie, Heidelberg, Germany
  • 2Neurologische Klinik, Abteilung Neuroradiologie, Heidelberg, Germany
  • 3Augenklinik, Sektion Ophthalmologische Rehabilitation, Heidelberg, Germany
  • 4Klinik für Mund-, Kiefer- und Gesichtschirurgie, Heidelberg, Germany
  • 5Institut für Humangenetik, Heidelberg, Germany

Aims: Encephalocraniocutaneous lipomatosis (ECCL) is a very rare sporadically occuring neurocutaneous syndrome with unilateral or bilateral manifestation, predominantly affecting the head. It is characterized by skin lesions (naevus psiloliparus, alopecia, subcutaneous fatty masses, nodular skin tags), ocular anomalies (mainly choristomas) und CNS anomalies (intracranial and spinal lipomas, intracranial vessel defects). About two-thirds of patients have a normal development or mild retardation only, and half of them have seizures. Jaw tumours and bone cysts may be associated.

Methods: We describe the clinical symptoms and neuroradiological findings of a 5 year old patient with ECCL.

Results: The patient is a boy born spontaneously at term following an uneventful pregnancy. Directly after birth alopecia in the left frontoparietal region, an epibulbar dermoid on the left eye and several small nodular skin tags on the left eyelid were observed. Additional ocular symptoms such as atypical optic discs up to morning glory disc were detected later. At the age of three, an ameloblastic fibroodontoma of the left dental lamina and the maxillary sinus was diagnosed, upon which he underwent surgery several times. MRI of the brain revealed a lipoma in the middle fossa and a venous dysplasia in the left temporoparietal region. On examination at 5 years of age, a broad, hairless fatty tissue naevus of the scalp (naevus psiloliparus) in the left frontoparietal region and subcutaneous fatty masses on the left malar bone were detected. Up to now the boy shows a normal development and no epileptic seizures.

Conclusion: For children showing congenital anomalies of the skin, eyes and brain, benign mesenchymal tumours (lipoma, odontoma, osteoma, bone cysts) and cardiac defects (esp. aortic coarctation), the diagnosis encephalocraniocutaneous lipomatosis (ECCL) should be considered. The aetiology of ECCL is likely to involve mosaicism of mutated autosomal genes. A specific genetic diagnostics is not yet available.

encephalocraniocutaneous lipomatosis - naevus psiloliparus - intracranial lipomas