case_images: PMC10622957_01
case_images: Family pedigree and clinical features of the proband. (A) Family pedigree. The proband was noted to have a homozygous variant. Parents and grandparents carried the heterozygous variant. The fetus carried the wild-type form of MLC1. (B) The appearance of the proband's head at 2 years of age. (C) The curve of the HC of the proband. Macrocephaly was observed during her first year of life and her HC at 15 months was 53.5 cm, > +3SD. The early rapid growth of the head, crossing +3 SD at approximately 6 months, was followed only a few months later (at approximately 1 year of age) by a slow growth that parallels the median curve.
case_images: fneur-14-1253398-g001.jpg
case_images: PMC10622957_01_fneur-14-1253398-g001.jpg
case_images: fig1
case_images: She and her spouse were non-consanguineous, with no notable medical conditions, and denied a family history of genetic diseases or a known history of neurological disorders (Figure 1A). She was in her second pregnancy at 12 weeks with no complications and had no notable history in her first pregnancy. At the age of 1 year and 3 months, her HC increased to 53.5 cm (> +3 SD, MHC: 45.9 cm; Figures 1B,C), whereas her height (75 cm) and weight (10 kg) were normal.
case_images: Brain magnetic resonance imaging (MRI) of the proband. (A) The brain MRI of the proband at 13 months. (B) Another image was taken at 3 years old. The MRI revealed swelling in the bilateral cerebral cortex and diffuse signal abnormalities in cerebral white matter, showing a low signal on T1-weighted images and a high signal on T2-weighted images, as well as in fluid-attenuated inversion recovery images. Subcortical cysts were not observed in any section.
case_images: fneur-14-1253398-g002.jpg
case_images: PMC10622957_01_fneur-14-1253398-g002.jpg
case_images: fig2
case_images: Brain MRI at 13 months revealed swelling in the bilateral cerebral cortex and diffuse signal abnormalities in the cerebral white matter, showing a low signal on T1-weighted images and a high signal on T2-weighted images, as well as fluid-attenuated inversion recovery images; however, subcortical cysts were not seen in all sections (Figure 2A).
case_images: Timeline of clinical manifestations. Macrocephaly, spasticity, motor and cognitive regression, and psychiatric symptoms are the main clinical manifestations of the proband.
case_images: fneur-14-1253398-g003.jpg
case_images: PMC10622957_01_fneur-14-1253398-g003.jpg
case_images: fig3
case_images: Detailed information is provided in Table 1; Figure 3.