Short Communication
Epilepsy of Janz (Juvenile Myoclonic), Report of the
Case of Two Brothers and Review of the Literature
José Roberto Cárdenas Félix1, Humberto Ortiz Castañeda2 and Gabriel Miranda Nava3*
Author Affiliations
1Undergraduate intern doctor Regional Military Hospital of specialties of Guadalajara
2Director Regional Military Hospital of specialties of Guadalajara
3Neurologist assigned to Neurology Service of the Regional Military Hospital of specialties of Guadalajara
Received: October 16, 2019 | Published: November 13, 2019
Corresponding author: Gabriel Miranda Nava, Neurologist assigned to Neurology Service of the Regional Military Hospital of
specialties of Guadalajara
DOI: 10.26717/BJSTR.2019.22.003806
Juvenile myoclonic epilepsy classified as a generalized genetic epilepsy, occurs with
abrupt shaking of the upper limbs and if the lower limbs are affected, with a fall, there
is no loss of consciousness. They appear preferably in the first minutes when waking
up. They are triggered by sleep deprivation and alcohol intake. The disease follows a
non-progressive course.
Fragment
Juvenile myoclonic epilepsy classified as a generalized genetic epilepsy, occurs with
abrupt shaking of the upper limbs and if the lower limbs are affected, with a fall, there
is no loss of consciousness. They appear preferably in the first minutes when waking
up. They are triggered by sleep deprivation and alcohol intake. The disease follows a
non-progressive course.
Clinic Case
Female patient of 15 years of age who comes to the service due to absence crisis
and apparent insomnia problem. The semiology of absence crisis and occasional
nocturnal myoclonias are interrogated and observed. An electroencephalogram is
performed and a 4-wave slow-wave polypoint pattern is generalized throughout the
stroke, especially in photo stimulation (Figure 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 has a generalized slow wave polypoint
pattern (Figure 3,4) Valproate treatment is initiated with good response.
Conclusion
Juvenile myoclonic epilepsy makes up at least one tenth of epileptic syndromes,
of a genetic nature with a family presentation that presents with repetitive abrupt
movements. Valproic acid is a first-choice treatment and lifestyle changes and their
triggers.
Keywords: Epilepsy; Juvenile Myoclonic
Epilepsy; Janz; Myoclonias
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.
Epidemiology
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.
Clinical Presentation
Reiterating the starting range of 8-26 years with an average
presentation at 13 years of age 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.
Clinical Case
A 15-year-old female patient presented to the service due to
absence crisis and 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 (Figure 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.
Treatment
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.
None.
No conflict of interest.
Short Communication
