Low-grade astrocytoma in a child with encephalocraniocutaneous lipomatosis

Abstract

Encephalocutaneous lipomatosis (ECCL), or Haberland syndrome, is an uncommon congenital disorder with unique cutaneous, ocular and neurological features. In the present article, we describe a 3-year-old boy with ECCL who developed an extensive and recurring intraventricular low-grade glioma with atypical pathological features and elevated mitotic index. Cytogenetic analysis from tumor sample was also performed. This is the first report of a low-grade astrocytoma occurring in a child with ECCL. Whether or not the origin of the tumor is associated to the pathogenesis of the underlying syndrome is a matter for further investigation.

Encephalocraniocutaneous lipomatosis: A case report and review of the literature

“…[45] Approximately, 77 patients with the ECCL (PubMed search, accessed on 09-09-2013) have been reported in the literature. [12345678910111213] No epidemiological data on incidence of the disorder is available. There is no clear gender, racial, or geographical predilection.…”

Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: report of additional three cases

“…ECCL can be associated with neuroepithelial tumors rarely. There have been four cases of low-grade gliomas reported in children with ECCL: two cases of grade I pilocytic astrocytoma and one case of papillary glioneuronal tumor and grade II glial neoplasm [6][7][8][9]. Our one patient (case 2) has optic glioma.…”

“…In literature, varied CNS anomalies have been described including cranial and spinal lipomas, asymmetric cerebral atrophy, cysts, earlyonset seizure, severe intellectual disability, or behavioral changes or normal development can be seen [5]. There have been four cases of low-grade gliomas reported in children with ECCL [6][7][8][9].…”

Encephalocraniocutaneous lipomatosis (ECCL): Neuroradiological findings in three patients and a new association with fibrous dysplasia

“…Since 1970, when Haberland andPerou [1970] had described the first patient, 54 cases of ECCL have been reported in literature (not including our three patients) [Moog, 2009;Brassesco et al, 2010]. Aside from the classical manifestations, some tumors other than lipomas and choristomas have been described in association with ECCL.…”

“…Aside from the classical manifestations, some tumors other than lipomas and choristomas have been described in association with ECCL. They consisted of odontomas [Savage et al, 1985;Hauber et al, 2003;Andreadis et al, 2004;Zieli nskaKa zmierska et al, 2005], non-ossifying fibromas [Moog et al, 2007b], ossifying fibromas [MacLaren et al, 1995], and a lowgrade astrocytoma [Brassesco et al, 2010].…”