A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation
Index patient was a 12-year-old boy who was admitted to the hospital for generalized dryness of skin and developmental delay. He was moderate mentally retarded and unable to walk. He was the second child of healthy consanguineous parents. He had delivered at pre-term (32 weeks of gestation) by normal vaginal delivery. There was no history of maternal diabetes or exposure to any teratogenic agent during the pregnancy. Birth weight, length, and head circumference measurements were unknown. He had first evaluated for delayed walking at 2.5 years of age and cerebral magnetic resonance imaging (MRI) had detected symmetrical white matter lesions. The diagnosis was spastic diplegic type of cerebral palsy, which resulted from premature birth and MRI findings. He had global developmental delay and he had generalized seizures since 7 years of age that had been controlled with valproic acid treatment.\nPhysical examination showed generalized dryness of skin most predominant around the umbilicus and on the bilateral lower limbs []. The face, palms, and soles were affected, but the nails and teeth appeared normal. Skeletal abnormalities (e.g., short stature, kyphoscoliosis) were not observed. Neurological examination revealed moderate mental retardation, and spasticity. The deep tendon reflexes were brisk in the lower limbs and he had muscle weakness of grade 3/5 in both lower limbs and could not walk. Ophthalmologic examination was normal.\nIn laboratory, metabolic investigations including, serum lactate, pyruvate, tandem mass spectrometry, urine organic acids, and phytanic acid revealed were normal. His electroencephalogram (EEG) showed symmetrical slow background activity without other abnormalities. MRI of the brain showed diffuse and symmetrical high-signal intensity in bilateral deep periventricular white matter in the corona radiata [].