Electroclinical Pattern and Epilepsy Evolution in an Infant with Miller-Dieker Syndrome.

AIM OF THE STUDY: To evaluate the electroclinical course and the correlation Electroencephalographic (EEG) pattern and epileptic seizures in an infant with Miller Dieker Syndrome (MDS) during the first year of life.

MATERIALS AND METHODS: MDS was diagnosed in the infant soon after birth and followed up from six months of life to one year, at the Department of Pediatrics, General Pediatric Operative Unit, Policlinico Vittorio Emanuele, University Hospital, XCatania, Italy, with clinical and serial EEG recording.

RESULTS: Aside from severe delay in the developmental milestone, the onset of the seizures was first noticed by the parents at the age of 4 months as brief slow tonic movements; at 6 months as tonic movements of the upper limbs with a slow rotations of the trunk, i.e. "subtle spams"; and at 7 months as typical "infantile spams" and tonic seizures. The EEG recording registered pattern of modified hypsarrhythmia (MH) correlated with "subtle spams" at the age of 6 months and at the age of 7 months the same EEG recording of MH associated to clinical expression of classical Infantile Spams (IS).

CONCLUSIONS: In this infant, the EEG pattern and epileptic seizures were widely variable ranging clinically from brief anomalous movements to "subtle spams" and to typical infantile spams. At the same time, the EEG recording manifested first with MH and one month later with classical hypsarrhythmia. The EEG recording MH correlated first with clinical expression of subtle spams and the EEG remaining unchanged with the classical clinical expression of infantile spams.