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Indexed/Abstracted in: CAB, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,532
Online ISSN 1827-1715
Cul trera F., Guarnera F., Giardina M. C.
The authors report a case of encephalocraniocutaneous lipomatosis (ECCL) in a female infant. Clinical manifestations in this case showed significative overlap with another neurocutaneous syndrome, namely oculocerebrocutaneous (OCC) Delleman's syndrome. This may support the theory of somatic mosaicism. The patient underwent a cerebrospinal fluid (CSF) shunt procedure due to marked tetraventricular hydrocephalus that was not present at birth. The need for close and multidisciplinary follow-up of these patients is stressed.