Megalencephaly cutis marmorata telangiectatica congenita

Overview

Megalencephaly - cutis marmorata telangiectatica congenita: A very rare syndrome characterized mainly by an enlarged brain, neurological abnormalities and a blood vessel abnormality that gives the skin a marbled appearance.

Symptoms

* Large brain * Neurological problems * Cherry red eye macule * Asymmetrical growth * Large mouth * Cavernous hemangiomas * Extra fingers * Webbed fingers * Discolored patches of skin * Marbled skin appearance

Causes

* Extra fingers * Large brain * Large mouth * Neurological problems * Webbed fingers

Treatment

* Neurology (Brain/CNS Specialists): o Neurology (Brain/CNS Specialists) o Pediatric Neurology (Child Brain Specialist) o Pediatric Neurosurgery (Child Neurosurgeon) o Clinical Neurophysiology o Neurodevelopment Disabilities o Neurosurgery o Neuromusculoskeletal Medicine o Neuroradiology o Vascular Neurology o Neuropathology o Otology / Neurotology (Ear/Hearing Specialists)