Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene
| Autor: | Helge Boman, Cengiz Yalcinkaya, Ozgur Kasapcopur, Zehra Isik Hasiloglu, Per M. Knappskog, Beyhan Tüysüz |
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| Rok vydání: | 2013 |
| Předmět: |
Male
Pathology medicine.medical_specialty Adolescent Turkey DNA Mutational Analysis Mutation Missense Sweating Scoliosis Fluid-attenuated inversion recovery Nerve Fibers Myelinated White matter Young Adult Camptodactyly Developmental Neuroscience medicine Humans Hyperhidrosis Missense mutation Receptors Cytokine Kyphoscoliosis medicine.diagnostic_test business.industry Siblings Brain Magnetic resonance imaging General Medicine Anatomy medicine.disease Magnetic Resonance Imaging Cold Temperature medicine.anatomical_structure Pediatrics Perinatology and Child Health Neurology (clinical) medicine.symptom business |
| Zdroj: | Brain and Development. 35:596-601 |
| ISSN: | 0387-7604 |
| DOI: | 10.1016/j.braindev.2012.08.011 |
| Popis: | Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder characterized by excess sweating induced by cold exposure, camptodactyly and kyphoscoliosis. CISS is genetically heterogeneous. Deficiency of the CRLF1 or the CLCF1 gene function results in one of two clinically indistuinguishable disorders called CISS1 and CISS2, respectively. We present two Turkish brothers (22 and 13 years old) who had excess sweating induced by cold exposure, severe dorsal scoliosis, camptodactyly, reduced pain sensitivity and marfanoid habitus. The patients were homozygous and their parents heterozygous for a novel missense mutation c.413C>T (p.Pro138Leu) in CRLF1 gene. The cranial magnetic resonance imaging (MRI) of two patients also showed multiple small hyperintense lesions in the subcortical white matter. Similar MRI finding has also been reported in a Japanese woman with CISS1 and marfanoid habitus. The lesions found in the present cases showed no characteristic features. However, multiple small hyperintense lesions in subcortical white matter on T2 weighted and fluid attenuation inversion recovery (FLAIR) images may support the clinical diagnosis of CISS. |
| Databáze: | OpenAIRE |
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