The linear naevus sebaceus syndrome.
The linear naevus sebaceus syndrome (LNSS) is a phakomatosis, characterized in general by a triad consisting of naevus sebaceus of Jadassohn, seizures, and mental retardation. In addition, a broad spectrum of neurological, ophthalmological, skeletal, urogenital and cardiovascular symptoms may be encountered. According to our literature review, seizures and mental retardation were reported in 67 and 61% of cases, respectively. Because ophthalmological abnormalities (59%) and involvement of other organ systems (61%) occur frequently, we advise avoidance of adhering to the classical triad for recognizing or describing LNSS. Gross structural abnormality of the cerebrum or cranium was frequently observed (72%), consisting mainly of enlargement of one lateral ventricle, hemimegalencephaly and hemimegacranium. We report a case of a male patient with the clinical features of LNSS, but without cerebral developmental abnormalities at autopsy examination.
van de Warrenburg
B P
BP
Department of Child Neurology, University Hospital Nijmegen St. Radboud, The Netherlands.
van Gulik
S
S
Renier
W O
WO
Lammens
M
M
Doelman
J C
JC
D000328:Adult; D001344:Autopsy; D002540:Cerebral Cortex / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D009506:Nevus / Q000150:complications* / Q000473:pathology; D012627:Sebaceous Glands / Q000473:pathology*; D012640:Seizures / Q000209:etiology; D012878:Skin Neoplasms / Q000150:complications* / Q000473:pathology; D013577:Syndrome