Malformation of cortical development associated with nocturn | Figure 1

marcodicesare

Neurology Resident

Malformation of cortical development associated with nocturnal seizures

Case Overview

Case of a 24 year boy admitted for first episode of nocturnal seizure. Semiology of seizure is generalized (4 limbs rigidity, stertorous breathing, loss of consciousness and post seizure confusion). Admitted in Neurology.

EEG Analysis

Where are the anomalies in this EEG tracing?

Clues: patient was treated as a focal form of seizure with LCS and now he obtained full control of seizures; although, the first EEG tracing (longitudinal acquisition) does not completely convince me for a focal manifestation. Response to acoustic stimuli is unremarkable.

MRI Findings

MRI showed a dysmorphic corpus callosum, an altered disposition of the right frontal-mesial gyri, asymmetry with prominence of the left temporal pole and dilatation of the right trigone; hypoplasia of vermis cerebellum and aplasia of left olfactory bulb (not seen in image). Radiological suspect for mild form of tubulinopathy.

Current Status

Genetic testing is undergoing.

Opinions and clues for differential diagnosis and case management are welcome!

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  3. Case linked A nice case I saw in the ward this week. 63F, known vasculopath...

Call for Discussion What should be the suspected diagnosis and treatment for the presented cases?