PMC7543990_01
Family pedigree, pictures showing craniofacial features and brain MRI scan. (A) Family pedigree. (B) Photographs of the index case (II:1, left), at 18-year-old, showing macrocephaly, high forehead, hypertelorism, depressed nasal bridge, large base to nose, anteverted nares and thick lips and younger brother (II:2, right), at 8-year-old, presenting with similar phenotypic features. (C) Brain MRI scan from patient II:2: Sagittal T1 SPGR (i) and coronal T2-weighted (ii) images showing diffuse cerebellar atrophy, involving both the vermis and the hemispheres, as well as pontine atrophy. There is no evidence of dentate calcification. Brain MRI form patient II:1 showed overlapping abnormalities.
fgene-11-01038-g001.jpg
PMC7543990_02_fgene-11-01038-g001.jpg
F1
Macrocephaly with normal additional growth parameters, talipes, diminished reflexes in the lower limbs, bilateral talipes equinovarus with a dystonic hallux, dystonic posture hands, kyphosis, hand stereotypies and facial features similar to his sister were also present (Figure 1B). Brain MRI (Figure 1C) showed diffuse cerebellar atrophy, involving both the vermis and the hemispheres, as well as pontine atrophy, normal spectroscopy and absence of other malformations.
PMC7543990_02
Family pedigree, pictures showing craniofacial features and brain MRI scan. (A) Family pedigree. (B) Photographs of the index case (II:1, left), at 18-year-old, showing macrocephaly, high forehead, hypertelorism, depressed nasal bridge, large base to nose, anteverted nares and thick lips and younger brother (II:2, right), at 8-year-old, presenting with similar phenotypic features. (C) Brain MRI scan from patient II:2: Sagittal T1 SPGR (i) and coronal T2-weighted (ii) images showing diffuse cerebellar atrophy, involving both the vermis and the hemispheres, as well as pontine atrophy. There is no evidence of dentate calcification. Brain MRI form patient II:1 showed overlapping abnormalities.
fgene-11-01038-g001.jpg
PMC7543990_02_fgene-11-01038-g001.jpg
F1
Macrocephaly with normal additional growth parameters, talipes, diminished reflexes in the lower limbs, bilateral talipes equinovarus with a dystonic hallux, dystonic posture hands, kyphosis, hand stereotypies and facial features similar to his sister were also present (Figure 1B). Brain MRI (Figure 1C) showed diffuse cerebellar atrophy, involving both the vermis and the hemispheres, as well as pontine atrophy, normal spectroscopy and absence of other malformations.