Juvenile myoclonic epilepsy, also known as Janz disease, is
classified as a generalized genetic epilepsy, with sudden jerking of
upper limbs with projection of the object in their hands, and if the
lower limbs are occasionally affected, with fall, presentation with
crisis Generalized tonic-clonic may also occur, and less frequently
absences. There is no loss of consciousness. They occur preferably
in the first minutes upon waking. They are triggered by sleep
deprivation and alcohol intake. Patients with JIA do not usually
have intellectual or neurological deficits and the disease follows a
non-progressive course. The objective is to present a clinical case of
familial Janz epilepsy and review of the literature.
It occurs within 5 to 10% of epileptic syndromes. Epilepsy
of genetic origin, with marker on the short arm of chromosome
6p21.3 and has also been identified on the long arm of chromosome
15 (15q14) occurs in both sexes and starting range between 8 and
26 years, with family history of Idiopathic Generalized Epilepsy in
25% of cases. With presentation of 1 in every 1000-2000.
Reiterating the starting range of 8-26 years with an average
presentation at 13 years of age, it presents myoclonus which are
characterized by single or repetitive, abrupt, arrhythmic and
involuntary shaking of predominance in the upper limb being
symmetrical, however, it may appear Unilateral are short, with
an approximate duration of one second which varies from violent
movements to minimal contractions. It is possible that there is a
case where there are no visible movements, however, the patient
refers to a sensation related to electric shock inside the body.
A 15-year-old female patient presented to the service due
to an absence crisis and an apparent insomnia problem . The
semiology of absence seizures is interrogated and in effect, as
well as occasional nocturnal myoclonus, electroencephalogram
is performed and a 4-wave slow polypoint pattern generalized
throughout the stroke is found, especially in photo stimulation
(Figures 1 & 2). The patient has an older brother of 17 years who
has developed school problems without a previous diagnosis of
epilepsy, electroencephalogram is performed and also presents a
generalized slow wave polypoon pattern (Figure 3 & 4). Valproate
treatment is initiated with a good response .
The basis of treatment is to avoid and suppress triggers such as
sleep suppression, fatigue, alcohol intake.
Within the pharmacological treatment the first choice is Valproic
acid with a daily dose of 1000 mg or less with an effectiveness of up
to 80%. It is suggested to avoid the use of Valproic Acid in women of
childbearing age, because significantly, depending on the dose, the
risk of fetal malformations increases.
Juvenile myoclonic epilepsy forms at least one tenth of the
epileptic syndromes, of a genetic nature with a family presentation
that presents with repetitive abrupt movements predominantly in
the upper limb, of a non-progressive nature, its timely detection
leads to effectiveness with its first-choice treatment Valproic acid
being, knotting the change of lifestyle and its triggers.