Brain anomalies in encephalocraniocutaneous lipomatosis

Abstract

Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, skin lesions, and CNS anomalies. We report on four new patients with this syndrome. Additionally, we reviewed (i) the brain imaging studies and clinical data of these new cases of ECCL and six other previously published ECCL patients, and (ii) the literature on 42 other patients who had undergone some form of neuroimaging, including three cases with probable or uncertain ECCL diagnoses. Thirty-three of 52 patients showed intracranial lipomas, frequently of cerebello-pontine location, and/or spinal lipomatosis. The latter has been found in 12/13 patients who had imaging studies of the spine. Other frequent findings included congenital anomalies of the meninges, in particular arachnoid cysts, and remarkably asymmetric anomalies caused by putative focal vascular defects, such as (partial) atrophy of one hemisphere or thin cerebral mantle, porencephalic cysts and calcifications. Vessel anomalies were found in nine patients. No correlation between the brain anomalies and the degree of retardation or epilepsy could be established. These data provide evidence that the brain anomalies in ECCL are not primary brain malformations but arise secondary to a mesenchymal defect affecting mostly neural crest derivatives.

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

“…So far, intracranial vessel anomalies have been described in nine patients and included meningeal angiomatosis, (thrombosed) vascular malformations, and excessive abnormal vessels. These findings reinforce the recommendation of using MR angiography and contrast medium in patients with the clinical suspect of ECCL [Parazzini et al, 1999;Moog et al, 2007a].…”

“…Central nervous system (CNS) anomalies include intracranial and spinal lipomas, congenital abnormalities of the meninges, asymmetric cerebral atrophy, dilated ventricles or hydrocephalus, porencephalic cysts, cortical dysplasia, parenchymal calcifications, and intracranial vessel anomalies. They are frequently confined to the same body side as the unilateral skin lesions [Fishman et al, 1978;Miyao et al, 1984;Happle and Steijlen, 1993;Hennekam, 1994;Legius et al, 1995;Ciatti et al, 1998;Parazzini et al, 1999;Romiti et al, 1999;Sant'Anna et al, 1999;Amor et al, 2000;Nowaczyk et al, 2000;Brown et al, 2003;Hauber et al, 2003;Lasierra et al, 2003;Donaire et al, 2005;Torrelo et al, 2005;Zieli nska-Ka zmierska et al, 2005;Sofiatti et al, 2006;L opez Sousa et al, 2007;Valladares et al, 2007;Moog et al, 2007a;Koishi et al, 2008;Stieler et al, 2008].…”

Is Schimmelpenning Syndrome Associated with Intracranial Tumors? A Case Report

“…However, a benign lipoma of the scalp underlying regions of alopecia, known as nevus psiloliparus, occurs uniquely with ECCL. The presence of benign lipomas elsewhere in the central nervous system also occurs frequently in ECCL patients [20]. …”

Lipomatosis encefalocraneocutánea: reporte de caso

“…La ECCL (también conocida como síndrome de Haberland o de Fishman) es un síndrome neurocutáneo raro, encontrándose en la literatura unos 90 casos reportados 2 . Fue descrita por primera vez por Haberland y Perou en 1970 3 , y posteriormente Fishman contribuyó con la descripción de casos nuevos 4 .…”

“…Las lesiones cerebrales se localizan en el mismo lado que las lesiones dérmicas, e incluyen hemiatrofia, lipomas intracraneales y medulares, quistes aracnoideos y porencefálicos, dilatación ventricular adyacente e hidrocefalia. También puede haber pér-dida de la normal opercularización de la ínsula y calcificaciones corticales, lipomas, adelgazamiento del cuerpo calloso y lesiones vasculares (anormalidades de los vasos y angiomatosis leptomeníngea) 2,8 . Pueden presentar discapacidad intelectual hasta un 40% y crisis convulsivas un 50-60% de los pacientes 5,11 , y otros como hemiplejia, parálisis facial, espasticidad, hipoacusia neurosensorial y trastornos de la conducta 12 .…”