Case report
An 18-year-old male was admitted in our neurology clinic for recurring
tonic clonic seizures that started three days prior to his admission.
Medical history was consistent with a full-term infant, born from
healthy and non-consanguineous parents after an uneventful pregnancy.
However, delivery was done by caesarean section due to dystocia. Family
history was unremarkable. He had mental and motor acquisition delay
because he could not seat after one year of age and walked after the age
of two. Parents reported that he presented focal tonic clonic seizures
in the right half of his body at one year of age, at least once a day
that worsened over the time to more than ten episodes daily. He was
first treated with Valproic Acid, Phenobarbital and Carbamazepine at
different times which could poorly control the seizures, despite having
received the correct doses. He also presented frequent falls and
injuries due to seizures. Later, they noticed that the right side of his
body was becoming smaller and weaker than the left one. In addition, he
presented a progressive intellectual disability that led him to drop out
of school at the age of nine. On examination, the body temperature,
blood pressure, heart and breathing rates, and the oxygen saturation
were normal. Neurological examination found status epilepticus with
right-sided focal tonic clonic seizures followed by secondary
generalization. He had severe cognitive decline and couldn’t count from
one to ten. Mini Mental State Examination (MMSE) was not possible. Body
asymmetry and hemiparesis was confirmed in addition to ankylosis in the
right wrist and elbow and a prominent forehead (Figure 1A&B&C).
Abdominal, cardiovascular, and pulmonary examination were unremarkable.
He did not present any cutaneous lesions other than scars caused by
seizure-related injuries. Blood chemistries including total blood cell
count, liver enzymes, serum creatinine and blood ions were normal. EEG
performed two weeks after admission found a diffuse
slow background with delta wave
activities in hyperpnea and a continued focal to diffuse pseudo periodic
activities (Figure 2A&B). Brain CT-scan revealed a pronounced atrophy
of left cerebral hemisphere with ex vacuo of the ipsilateral
ventricle. Furthermore, a bilateral abnormal thickening of the skull
bone with an hyperpneumatization of the frontal sinuses were seen
(Figure 2C&D). His clinical and imaging features were consistent with
DDMS. He was initially put on intravenous Levetiracetam (1500mg/day),
and continuous infusion of Clonazepam (2mg/day). The disease course
remarkably changed to fewer seizures (down to 10 a day). Then, we added
oral Valproic Acid (500mg twice a day) that drastically improved the
seizures with a maximum of two seizures daily and the patient was
discharged on this treatment. After the discharge, parents reported that
he presented three episodes of seizures in one month.