A 7-year-old boy, second born to nonconsanguineously married parents, with normal
perinatal period, presented with proximal shoulder jerking associated with uprolling
of eyes and loss of awareness. Each episode lasted 10 to 15 seconds, and he had 12
to 15 episodes a day, both in awake state and during sleep for the past 7 to 8 months.
He had no significant family history. He had a good scholastic performance. His anthropometry,
systemic, and neurological examinations were within normal limits, without any neurocutaneous
markers. Awake ictal electroencephalogram (EEG) revealed generalized 3- to 3.5-Hz
spike-and-wave discharges coinciding with myoclonic jerks on hyperventilation ([Video 1]). An electroclinical diagnosis of epilepsy with myoclonic absences was made and
the patient was started on sodium valproate, followed by ethosuximide and lamotrigine.
A ketogenic diet was not tried. At 2 years of follow-up, he showed improvement with
60 to 70% reduction of seizure episodes. He was controlled on ethosuximide alone,
and the other two were tapered and stopped.
Video 1 Video electroencephalographic (VEEG) recording in the index case during hyperventilation
with outstretched hands (common average montage, sensitivity: 50 µV/mm, sweep speed:
30 mm/s) induces the typical ictal event as cessation of ongoing activity, unrolling
of eyes, proximal jerks in the upper limbs and head lasting for a few seconds, and
rapid regain of consciousness. The child had no memory of the event. The corresponding
EEG shows abrupt onset of high-amplitude, monomorphic, bifrontal-dominant, generalized
3- to 3.5-Hz spike-and-wave discharges. The seizure starts a few seconds after the
onset of discharge.
Tassinari's syndrome, also known as epilepsy with myoclonic absence (EMA), is a rare
childhood generalized epilepsy syndrome, first described by Tassinari et al in 1969.[1]
[2] EMA is characterized by the rhythmic, myoclonic jerking of the head, extremities,
or both, with impairment of awareness.[3] The mean age of onset of seizures is 3.5 to 5.2 years.[2]
[4] Affected children may have normal intellect before the onset of seizures, but most
have global developmental delay, language impairment, or cognitive slowing after the
onset of symptoms.[2] The ictal EEG pattern in EMA includes bilateral, synchronous, and rhythmic spike-and-wave
complexes at 3- to 3.5-Hz frequencies, time-locked with myoclonus.[2]
[4] The preferred antiseizure medications (ASMs) reported in the literature are sodium
valproate, lamotrigine, and ethosuximide, similar to the index case.[2]
[4] The other epileptic syndromes that overlap with EMA are childhood absence epilepsy,
myoclonic-astatic epilepsy, and juvenile myoclonic epilepsy. Transient response to
ketogenic diet has been reported.[2] Long-term prognosis of EMA is guarded, and drug-refractory epilepsy is common.[2]
[4] In children with absence seizures, proximal jerks can be the diagnostic clue for
Tassinari's syndrome.
