Affiliations: Department of Neurology, Hospital Nacional de
Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires,
Argentina
Note: [] Correspondence: Ricardo Oscar Cersósimo, M.D.,
Neurología. Hospital de Pediatría J. P. Garrahan. Combate de los
Pozos 1881. CP 1245, Buenos Aires, Argentina, Tel./Fax: +54 11 49 43 61 16;
E-mail: ricardo_cersosimo@yahoo.com.ar
Abstract: X-linked infantile spasms associated with mental retardation have
been recognized as a syndrome with an identified gene: ARX. We report a family
with eight affected males. Mental retardation was present in all, seven also
had epilepsy. In the index case, onset took place in the form of West syndrome.
The index case was a boy now six years of age, born from healthy
non-consanguineous parents who started at age one month with focal seizures
associated with fever. His younger brother had a similar onset. We were not
able to examine the other affected males of the family and diagnosis of their
type of epilepsy could not be defined. In the first case, the
electroencephalogram (EEG) at one month showed slow waves in fronto-temporal
regions. Laboratory and imaging studies were normal. Clusters of epileptic
spasms with hypsarrhythmia in the EEG appeared at six months of age. The spasms
were refractory to treatment. Psychomotor development was severely delayed
thereafter. His younger brother also started with focal seizures at one month
of age, but a few months later he presented frequent myoclonic seizures
associated with generalized spike and spike-wave paroxysms on the EEG. His
laboratory work-up and brain imaging were also normal and his seizures have
remained refractory to antiepileptic drugs. This child was also mentally
retarded. Apparently, there are various phenotypes of epilepsy associated with
mental retardation in males in this family. However, our index case seems to
have a disease compatible with the diagnosis of X-linked West syndrome.
Keywords: west syndrome, X-linked, epileptic spasms, hypsarrhythmia, mental retardation
