In infants, the presence of a cranial defect may be due to a variety of traumatic, inflammatory, neoplastic, and congenital abnormalities. Differentiation between these possible etiologies is facilitated by clinical presentation, patient history, and physical examination. Congenital cutaneous neural crest–derived lesions are unlikely to be considered in a patient presenting with an asymptomatic cranial defect without overlying mass or skin pigmentation. The authors present an unusual case of a 2-month-old infant with an asymptomatic calvarial defect with normal overlying skin. Pathology of the excised tissue showed features consistent with a congenital neurocristic tumor: a pigmented, neural crest–derived hamartomatous tumor that typically presents as a melanotic skin lesion.
Caroline Hadley, Carrie A. Mohila, Thomas G. Luerssen and Sandi Lam
Loyola V. Gressot, Carrie A. Mohila, Andrew Jea, Thomas G. Luerssen and Robert J. Bollo
Nonterminal myelocystocele is a rare type of spinal dysraphism characterized by a closed defect with an underlying CSF-filled cyst, either contiguous with the central spinal canal or attached to the spinal cord by a fibrovascular stalk. The authors report the unusual case of a neonate with a prenatal diagnosis of cervicothoracic nonterminal myelocystocele who underwent postnatal surgical untethering of the lesion. Pathological analysis of the excised lesion revealed neuroglial tissue with an ependymal lining associated with a mature teratoma. Three months after surgery, the patient has normal lower-extremity sensorimotor function and no evidence of bowel or bladder dysfunction. To the best of the authors' knowledge, this is the first report of a patient with a nonterminal myelocystocele found to have an associated mature teratoma.