Published online August 15, 1997.
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
: 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.
: 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.
: 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.
: 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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