Overlap among neurocutaneous syndromes. Observations on encephalocraniocutaneous lipomatosis.
The authors report a case of encephalocraniocutaneous lipomatosis (ECCL) in a female infant. Clinical manifestations in this case showed significative overlap with another neurocutaneous syndrome, namely oculocerebrocutaneous (OCC) Delleman's syndrome. This may support the theory of somatic mosaicism. The patient underwent a cerebrospinal fluid (CSF) shunt procedure due to marked tetraventricular hydrocephalus that was not present at birth. The need for close and multidisciplinary follow-up of these patients is stressed.
Cultrera
F
F
Division of Neurosurgery, Garibaldi Hospital, Catania, Italy. cicciocultrera@tiscali.it
Guarnera
F
F
Giardina
M C
MC
D001927:Brain Diseases / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008068:Lipomatosis / Q000175:diagnosis*; D020752:Neurocutaneous Syndromes / Q000175:diagnosis*