Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome

Particularities of the patient phenotype. Patient at the age of 3 years a, b and 14 years c presented with a facial dysmorphism with epicanthus, hypertelorism, broad nasal root, anteverted nares, long philtrum, thin upper lip. The written consent for publication of these photos was obtained from child’s parents. Cerebral MRI shows diffuse hypomyelination at the age of 2 years with white matter appearing respectively in hypersignal on T2-weighted sequences, in hypersignal on FLAIR sequences and in normosignal on T1-weighted sequences d, g, j. Progressive myelination and dilatation and coalescing of Virchow–Robin spaces at the age of 6 e, h, k and 14 years f, i, l. 1H-MRS in the corona radiata for classical SLS patients shows a typical major peak at 1.3？ppm and a smaller peak at 0.9？ppm (m, arrows). 1H-MRS for our patient reveals a similar pattern with two peaks at 1.3 and 0.9？ppm (arrows) at the age of 2 n and 6 years o. However, the peak at 1.3？ppm appears smaller than the peak at 0.9？ppm in our patient. We observed no decrease in N-acetyl-aspartate (NAA)/creatine (Cr) ratio, or in choline (Cho) peak suggesting normal maintenance of neuronal and myelin content but a small increase of inositol peak that may be due to some astrocytic stress. Family pedigrees p and patient’s genotype r,