Researchers at Juntendo University and Tokyo Women’s Medical University, Japan; and University of California, San Francisco, Ca, report a male infant with epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma. Macrocephaly and enlarged fourth ventricle were noted on fetal ultrasound. At birth the patient had epidermal nevi, brain malformations including polymicrogyria, dysmorphic and enlarged midbrain tectum, and enlarged cerebellar hemispheres. The patient died after surgical resection of a medulloblastoma, diagnosed on MRI at 51 days of age. At autopsy, the cerebellum had many foci of heterotopia and the brainstem showed multiple anomalies, including enlarged superior colliculi, hypoplastic pyramidal tracts and dysplasia of inferior olivary nuclei. These malformations extend the spectrum of epidermal nevus syndrome. [1]

COMMENT. Epidermal nevus syndrome (or Solomon syndrome) is characterized by various epidermal nevi, including ichthyosis, acanthotic, and sebaceous, mental retardation, epilepsy, ocular abnormalities, including coloboma, microphthalmos, cataracts, and skeletal, cardiac, and urogenital abnormalities. Associated abnormalities include hemihypertrophy, hemimegalencephaly, seizures, including infantile spasms, sensorineural deafness, spastic hemiparesis, kyphoscoliosis, and polydactyly. A tendency to malignant transformation of nevi and associated visceral malignancies (Wilms tumor, astrocytoma, intrathoracic teratoma) are reported. [2]