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Abstract
Aim To describe a rare seizure pattern seen in McCune Albright Syndrome
Material and Method McCune Albright Syndrome (MAS) is rare genetic disorder defined by the clinical triad of fibrous dysplasia of bone, café-au-lait skin spots, and precocious puberty. The estimated prevalence of MAS between 1/100.000 to 1/1.000.000 population caused by somatic mutations of the GNAS gene. Seizure in MAS can results from various factors, including abnormal electrical activity in the brain or hormonal imbalances. Continuous spike and wave during slow wave sleep is an epileptic encephalopathy that presents with neurocognitive regression and clinical seizures, and that demonstrates an electroencephalogram (EEG) pattern of electrical status epilepticus during sleep.
Results We observed an eight-old boy with history of McCune Albright syndrome diagnosed since the age of 2. The patient experienced generalized tonic-clonic seizure that had occurred while sleeping. The seizure started with involuntary movement in right arm followed by lip smacking and loss of consciousness. Previously the boy had experienced epileptic seizures 3 years before this complaint and already got anti-epileptic drugs until 2 years later. No history of febrile seizures nor birth distress were reported. The laboratory results were normal. There is no abnormality in the head. The electroencephalogram showed various abnormal waveforms. The first EEG (figure 1) was spike waves in the left temporo-anterior that spread to the left hemisphere and the spikes waves are also visible in the mid-temporal right which spreads to the right temporo-posterior-occipital. All epileptiform waves clearly seen when the patient is sleeping. Brain MRI demonstrated brain atrophy without any anatomical abnormalities. He has given valproic acid and methylprednisolone to treat the epilepsy. The EEG was improved without any clinical seizure appeared.
Feature 1. EEG of patients before treatment.
Conclusions The exact cause of seizures in MAS is not fully understood. Monitoring for patient with MAS including skeletal problem, endocrine hyperfunction, growth and development including non-classical manifestations are needed.