Fragile X Syndrome : Clinical Characteristics and EEG Findings |
Hee Jung Chung1, Kwang Eun Cha2, Sook Hwan Lee3 |
1Department of Pediatrics, Sowha Children`s Hospital, Seoul, Korea 2Department of Pediatrics, Cha General Hospital, Seoul, Korea 3Department of Obstetrics & Gynecology, Human Genetic Center of Cha General Hospital, Seoul, Korea |
약체 X염색체 증후군(fragile X syndrome)의 임상적 특징과 뇌파소견 |
정희정1, 차광은2, 이숙환3 |
1소화아동병원 소아과 2차병원 소아과 3차병원 산부인과 |
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Abstract |
Purpose : Fragile X syndrome is an X-llinked genetic disorder and is characterized
by mental retardation, learning disability, behavior disorder, and autism with typical
elongated face, large ears, and macro-orchidism. Recent reports have focused attention
on the EEG finding of this syndrome, which is a particular paroxysmal pattern during
sleep(mono or diphasic centrotemporal spikes) and awake state(background slowing).
In this study, we analyzed the clinical characteristics of fragile X syndrome patients
and observed whether a particular EEG pattern is associated with this syndrome or not.
Methods : 7 cases of fragile X syndrome, diagnosed at Sowha Children' s Hospital
and Cha General Hospital from August 1993 to February 1995, were analyzed retrospectively
in terms of typical phenotypes and clinical & EEG characteristics. The patients
were diagnosed by Southern blotting and polymerase chain reaction(PCR) method.
Results :
1) The subjects were all male and the mean age was 5.8 years old(2Y-11Y).
2) Typical phenotype of long elongated face, macro-orchidism, large ears, and large
head are noted in 2/3 of the subject.
3) Developmental delay, mental retardation, learning disability, attention deficit, hyperactivity,
and autism are noted in 2/3 of the subject.
4) Seizure is noted in one case and EEG was performed in 6 cases, regardless of the
presence of seizures. Abnormal findings including centrotemporal sharps and background
slowing are noted in one case, each.
5) By molecular diagnostic methods including Southern blotting and PCR, 3 cases of
affected male and 4 of normal transmitting male were diagnosed.
Conclusion :
1) The typical phenotype of fragile X syndrome is long elongated face, macroorchidism,
large ears and large head.
2) The non-physical characteristics of fragile X syndrome are developmental delay,
mental retardation, learning disability, attention deficit, hyperactivity, and autism.
3) The characteristic EEG findings of fragile X syndrome known by literature are
noted in 2 among 6 cases, which means the specificity is high even though the
sensitivity is low. This allows us to propose this EEG pattern as an important "marker"
in the diagnosis of fragile X syndrome. However, the number of the subject is too small
to conclude now. Further accumulation of cases is reguired. |
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