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Erschienen in:
01.05.2015 | Picture of the Month
Clinico-Radiological and Genetic Features of a Common Neuro-Ichthyotic Syndrome
Erschienen in: Indian Journal of Pediatrics | Ausgabe 5/2015
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Five-years-old monozygotic twin-sisters presented with delayed milestones. They had no seizures, vision or hearing deficits. Examination revealed itchy icthyosis (Fig. 1), abnormal dentition, lower limb spasticity, brisk muscle-stretch-reflexes and mild optic atrophy. Magnetic-Resonance-Imaging of the brain and MR-spectroscopy are shown in Fig. 2a, c. The clinico-radiological-features were consistent with Sjögren-Larsson-syndrome. The results of ALDH3A2 genetic testing are shown in Fig. 1c.
Fig. 1
Child with Sjögren-Larsson syndrome. Note presence of ichthyosis over upper and lower limbs (a and b). Direct sequencing of the 11 encoding exons and intron/exon boundaries of the ALDH3A2 gene (NM_001031806 and NM_000382.2) was done. The results are shown for family 1 (c) and family 2 (d). c.798 + 1 del mutation has been previously described [1]. c.953 T > C and c.680 + 1.G > A mutations are previously not described. These mutations are probably deleterious
Fig. 2
Magnetic-Resonance-Imaging of the child with Sjögren-Larsson syndrome. Axial T2-weighted images (a and b) of the brain show bilateral deep white matter hyperintensities. MR Spectroscopy (c) shows prominent lipid peak (arrow) in the periventricular region
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