Tohoku J. Exp. Med., 2024 April, 262(4)
Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report
Toshiki Inotani,1 Akira Horaguchi,1 Yuko Morishita,1 Ayuko Yoshida,1 Misaki Otomo,1 Makoto Suzuki,2 Takehiko Inui,3 Yukimune Okubo,3 Shigemasa Komatsu,4 Chika Mizuno,4 Yuko Takahashi,4 Tatsuhiro Ochiai,4 Takeshi Kinjo,5 Takashi Asato,5 Jun Takayama,6,7,8,10 Gen Tamiya,6,7,8,10 Naoya Saijo,9 Atsuo Kikuchi9,10 and Kazuhiro Haginoya3
1Department of Rehabilitation and Developmental Support, Miyagi Children's Hospital, Sendai, Miyagi, Japan
2Graduate School of Health and Environment Sciences, Tohoku Bunka Gakuen University, Sendai, Miyagi, Japan
3Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Miyagi, Japan
4Department of Pediatric Orthopedic Surgery and Rehabilitation, Miyagi Children's Hospital, Sendai, Miyagi, Japan
5Department of Orthopedic Surgery and Rehabilitation, Okinawa Prefectural Nanbu Medical Center and Children's Medical Center, Shimajirigun, Okinawa, Japan
6Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
7Tohoku Medical Megabank Organization, Tohoku University, Sendai, Miyagi, Japan
8Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan
9Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan
10Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
Selective dorsal rhizotomy (SDR) has been used to treat children with spastic cerebral palsy (CP), and its beneficial effect on quality of life and ambulation has been confirmed in long-term follow-up studies. However, the role of SDR in the treatment of spasticity in patients with hereditary spastic paraplegia (HSP) and related disorders is not well-established. Here, we report the first patient with the ZC4H2 variant who underwent SDR to treat spastic paraplegia. Abnormal gait was discovered during a regular checkup at the age of 3 years and 9 months, and she was diagnosed with spastic paraplegia. She was heterozygous for the ZC4H2 variant and underwent SDR at the age of 5 years and 11 months, which alleviated the spasticity. The patient underwent inpatient postoperative rehabilitation for 4 months and continued outpatient physiotherapy after discharge. The Gross Motor Function Measure-88 score and maximum walking speed decreased transiently 1 month postoperatively, but gradually recovered, and continuously improved 6 months postoperatively. SDR and postoperative intensive rehabilitation were effective in improving motor and walking functions up to 6 months after surgery, although long-term follow-up is needed to draw conclusions.
Key words —— Gross Motor Function Measure; hereditary spastic paraplegia; selective dorsal rhizotomy; SPG16; ZC4H2
© 2024 Tohoku University Medical Press
===============================
Tohoku J. Exp. Med., 2024 April, 262(4), 239-244.
Correspondence: Kazuhiro Haginoya, Department of Pediatric Neurology, Miyagi Children's Hospital, 4-3-17 Ochiai, Aoba-ku, Sendai, Miyagi 989-3126, Japan.
e-mail: khaginoya@kha.biglobe.ne.jp