Brain and Development Case Reports

A case of severe spinal muscular atrophy type 1 resistant to specific treatment due to a missense variant in the Tudor domain of SMN1

Pub Date : 2025-02-12 DOI: 10.1016/j.bdcasr.2025.100066 Tsuyoshi Aihara , Yuichi Abe , Atsushi Nishioka , Itaru Hayakawa

A case of selective developmental impairment of musical ability: Tone, beat, and chord deafness

Pub Date : 2025-01-31 DOI: 10.1016/j.bdcasr.2025.100064 Masayuki Satoh , Yoshito Mizoguchi , Katsuyuki Matsui , Makiko Abe , Ken-ichi Tabei

Hypertension due to ACTH treatment for lissencephaly with a novel PAFAH1B1 variant

Pub Date : 2025-01-30 DOI: 10.1016/j.bdcasr.2025.100065 Natsumi Ida , Yoshifusa Abe , Ryo Karato , Madoka Shirai , Kaori Kamijo , Mariko Takase , Takeshi Shimizu , Rei Ebata , Takeshi Mikawa , Mitsuhiro Kato