Clinical Characteristics of Fragile X Syndrome Patients in Japan

[Background] Fragile X syndrome (FXS) is a well-known X-linked disorder clinically characterized by intellectual disability and autistic features. However, diagnosed Japanese FXS cases have been fewer than expected, and clinical features of Japanese FXS patients remain unknown. [Methods] We evaluated the clinical features of Japanese FXS patients using the results of a questionnaire-based survey. [Results] We presented the characteristics of seven patients aged 6 to 20 years. Long face and large ears were observed in five of seven patients. Macrocephaly was observed in four of five patients. The meaningful word was first seen at a certain time point between 18 and 72 months (median = 60 months). Developmental quotient or intellectual quotient ranged between 20 and 48 (median = 29). Behavioral disorders were seen in all patients (autistic spectrum disorder in six patients, hyperactivity in five patients). Five patients were diagnosed by polymerase chain reaction analysis, and two patients were diagnosed by the cytogenetic study. All physicians ordered FXS genetic testing for suspicious cases because of clinical manifestations. [Conclusion] In the present study, a long face, large ears, macrocephaly, autistic spectrum disorder, and hyperactivity were observed in almost cases, and these characteristics might be common features in Japanese FXS patients. Our finding indicated the importance of clinical manifestations to diagnosis FXS. However, the sample size of the present study is small, and these features are also seen to patients with other disorders. We consider that genetic testing for FXS should be performed on a wider range of intellectually disabled cases.journal articl

キョウチョク カンタイセイ ケイレン オ テイスル ラット ケイトウ NER ノ テンカン イデンシ ノ センショクタイ マッピング

京都大学0048新制・論文博士博士(医学)乙第10633号論医博第1745号新制||医||775(附属図書館)UT51-2001-F431(主査)教授 柴崎 浩, 教授 橋本 信夫, 教授 中畑 龍俊学位規則第4条第2項該当Doctor of Medical ScienceKyoto UniversityDA

Cerebral Sinovenous Thrombosis and Subdural Hematoma as Treatment-Related Complications in Suprasellar Germ Cell Tumor Associated with Adipsic Diabetes Insipidus

Cerebral sinovenous thrombosis (CSVT) is a rare but not a negligible complication in pediatric brain tumor. An 11-year-old male with suprasellar germ cell tumor developed treatment-related vascular complications of CSVT and subdural hematoma. The underlying mechanism of CSVT was attributed to multiple risk factors, such as adipsic diabetes insipidus, obesity, central apnea, and chemotherapy-induced endothelial injury. In an attempt to minimize the possible risk of vascular complications, including late effect in pediatric brain tumors, we would like to stress the importance of individualized supportive therapy, i.e., hormone replacement, fluid management, thromboprophylaxis, and bi-level positive airway pressure therapy.</jats:p