Koichi Deguchi, Ryuta Saka, Marie Todo, Chiyoshi Toyama, Miho Watanabe, Kazunori Masahata, Masafumi Kamiyama, Yuko Tazuke, Shin Nabatame, Toshiyuki Itai, Satoko Miyatake, Naomichi Matsumoto, Hiroomi Okuyama
The COL4A1 (collagen Type 4 alpha1) pathogenic variant is associated with porencephaly and schizencephaly and accounts for approximately 20% of these patients. This gene variant leads to systemic microvasculopathy, which manifests as brain, ocular, renal, and muscular disorders. However, only a few patients with surgical interventions have been reported and the potential surgical risks are unknown. Here, we present the cases of two female patients between 7 and 8 years of age who were diagnosed with the COL4A1 variant and underwent laparoscopy-assisted percutaneous endoscopic gastrostomy (LAPEG) for oral dysphagia...
December 6, 2023: Asian Journal of Endoscopic Surgery