Brain and Development Case Reports

Elevated lactate dehydrogenase in a patient with late-infantile GM1-gangliosidosis

Pub Date : 2025-04-16 DOI: 10.1016/j.bdcasr.2025.100077 Kozue Kobayashi , Tatsuya Suito , Nodoka Hinokuma , Aya Narita , Mitsuhiro Kato

Au-Kline syndrome with a novel variant in a girl presenting with heat intolerance in the summer: A case report and literature review

Pub Date : 2025-04-10 DOI: 10.1016/j.bdcasr.2025.100075 Kazuki Suemune, Hiroshi Yamaguchi, Hiroaki Hanafusa, Ming Juan Ye, Kandai Nozu, Hiroaki Nagase

Alagille syndrome presenting with increased intracranial pressure caused by late-onset craniosynostosis

Pub Date : 2025-04-03 DOI: 10.1016/j.bdcasr.2025.100074 Toyo Shimizu , Atsuko Harada , Shigeo Kyutoku , Yuki Wada , Yoshinori Kadono , Kazushige Maeno , Eitaro Hiejima , Koichi Ueda , Haruhiko Kishima