case_images: PMC11751030_01
case_images: Generalized hypotonia observed in the patient.
case_images: fnins-18-1476977-g001.jpg
case_images: PMC11751030_01_fnins-18-1476977-g001.jpg
case_images: fig1
case_images: In Figure 1, a photo of the patient depicts trunk and limb weakness, loss of head control, and inability to roll over.
case_images: Radiology image.
case_images: fnins-18-1476977-g002.jpg
case_images: PMC11751030_01_fnins-18-1476977-g002.jpg
case_images: fig2
case_images: Ventilation-wise, audible vesicular breath sounds were present, signs of pneumonia (See Figure 2) under ventilation mode pa/c fio2:80, pins 16, fr:32, and 98% oxygen saturation.
case_images: Timeline of key clinical events.
case_images: fnins-18-1476977-g003.jpg
case_images: PMC11751030_01_fnins-18-1476977-g003.jpg
case_images: fig3
case_images: In Figure 3, a timeline summary of the patient's most relevant clinical events is depicted.
case_images: Genetic test results.
case_images: fnins-18-1476977-g004.jpg
case_images: PMC11751030_01_fnins-18-1476977-g004.jpg
case_images: fig4
case_images: Figure 4 displays the results of the genetic test conducted on this patient.