case_images: PMC5700155_01
case_images: Patient's clinical, ophthalmological, and radiological findings. (A) Brownish hyperkeratosis in the abdominal area. (B) Crystalline retinopathy in both eyes. (C) Increased signal intensity on T2-weighted images lateral, superior, and posterior to both lateral ventricles, especially in the superior aspect. (D) Sharp lipid peak at 1.3 ppm and a small peak at 0.9 ppm by proton MR spectroscopy (1H-MRS).
case_images: alm-38-80-g001.jpg
case_images: PMC5700155_01_alm-38-80-g001.jpg
case_images: F1
case_images: Generalized brownish ichthyosis was observed on the skin, except the face, and was prominent in periarticular regions of the upper and lower extremities (Fig. 1A). Ophthalmological examination showed crystalline retinopathy in both macular regions (Fig. 1B). Brain magnetic resonance imaging (MRI) showed mild brain atrophy in both frontal lobes and high signal intensity on T2-weighted images lateral, superior, and posterior to both lateral ventricles, especially in the superior aspect (Fig. 1C). A noticeable, sharp lipid peak at 1.3 ppm and a small peak at 0.9 ppm were identified by single-voxel proton MR spectroscopy (1H-MRS) (Fig. 1D).
case_images: Pedigree and sequence chromatogram of the ALDH3A2 variant identified in this family. (A) Family pedigree shows two affected patients. The elder brother of the proband is deceased. Male, square; female, circle; filled symbols, affected; half-filled symbols, heterozygous carriers; arrow, proband. (B) The patient is homozygous for the ALDH3A2 c.1157A>G (p.Asn386Ser) variant, while both parents are heterozygous carriers of the same variant (arrow).
case_images: alm-38-80-g002.jpg
case_images: PMC5700155_01_alm-38-80-g002.jpg
case_images: F2
case_images: The patient was homozygous for the NM_000382.2:c.1157A>G (p.Asn386Ser) variant in ALDH3A2, and both parents were heterozygous carriers for the same variant (Fig. 2).