An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty

Autor: Yuto Arai, Tohru Okanishi, Tetsuya Okazaki, Hiroyuki Awano, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Akiko Tamasaki, Yoshihiro Maegaki

Publikováno v: BMC Pediatrics, Vol 24, Iss 1, Pp 1-4 (2024)

Abstract Background ASXL3-related disorder, first described in 2013, is a genetic disorder with an autosomal dominant inheritance that is caused by a heterozygous loss-of-function variant in ASXL3. The most characteristic feature is neurodevelopmenta

Externí odkaz: https://doaj.org/article/45c5bcd2546541d69e4ec04f4f1f344a

Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome

Autor: Akiko Tamasaki, Ikumi Hori, Masayoshi Oguri, Hiroyuki Yamada, Yoshihiro Maegaki, Shinji Saitoh

Publikováno v: Yamada Hiroyuki, Tamasaki Akiko, Oguri Masayoshi, et al. Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome. EPILEPTIC DISORDERS. 2020. 22(5). 673-677. doi:10.1684/epd.2020.1212

Pitt-Hopkins syndrome is a rare genetic disease, characterised by severe intellectual disability, distinctive dysmorphic features, epilepsy and distinctive breathing abnormalities during wakefulness. Here, we describe the case of a 22-year-old woman

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86c516e697ac6d574e52be78a1324b6e
https://doi.org/10.1684/epd.2020.1212

Evolution of a symptomatic diffuse developmental venous anomaly with progressive cerebral atrophy in an atypical case of Sturge–Weber syndrome

Autor: Hidenori Sugano, Yuki Shinohara, Yoshihiro Maegaki, Masami Togawa, Takamichi Ito, Koyo Ohno, Yoko Nishimura, Akiko Tamasaki, Yoshiaki Saito, Shinji Itamura

Publikováno v: Brain and Development. 37:817-821

A 2-year-old boy had glaucoma, bilateral facial haemangioma and widespread blue nevi on the trunk and extremities since birth. Dilated medullary veins were detected in the left cerebral periventricular white matter on magnetic resonance imaging (MRI)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::752bef1f0069c2008b16d0921fb4f075
https://doi.org/10.1016/j.braindev.2014.12.003

An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation

Autor: Nobuhiko Okamoto, Akiko Tamasaki, Noriko Sangu, Keiko Shimojima, Toshiyuki Yamamoto, Shino Shimada

Publikováno v: American Journal of Medical Genetics Part A. 167:724-730

Patients with microdeletions in the 19p13.2 chromosomal region show developmental delays, overgrowth, and distinctive features with big head appearances. These manifestations are now recognized as Sotos syndrome-like features (Sotos syndrome 2) or Ma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b02fdb55cbd92cc15485b55d6a4e7e2f
https://doi.org/10.1002/ajmg.a.36959

Abnormal pupillary light reflex with chromatic pupillometry in G aucher disease

Autor: Ichiro Kuki, Yukitoshi Takahashi, Yusuke Hamada, Rumiko Takayama, Ken Asakawa, Kentarou Shirai, Norika Kubota, Tatsuya Fujii, Akiko Tamasaki, Asako Horino, Norio Sakai, Hitoshi Ishikawa, Aya Narita, Chikahiko Numakura, Mitsuhiro Kato, Yoshihiro Maegaki, Takeshi Inoue, Anri Hayashi, Yoko Nishimura, Atsuko Ohno, Maya Asami, Koyo Ohno, Kousaku Ohno, Takanori Onuki, Shoko Matsushita, Tomohiro Kumada

Publikováno v: Annals of Clinical and Translational Neurology

The hallmark of neuronopathic Gaucher disease (GD) is oculomotor abnormalities, but ophthalmological assessment is difficult in uncooperative patients. Chromatic pupillometry is a quantitative method to assess the pupillary light reflex (PLR) with mi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30ed30a6b7bd24b0684fe6107ae1b28c
https://doi.org/10.1002/acn3.33