A patient with peripheral demyelinating neuropathy,central dysmyelinating leukodystrophy,Waardenburg syndrome,and severe hypoganglionosis associated with a novel SOX10 mutation |
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| Authors: | Yuko Akutsu Kentaro Shirai Akira Takei Yudai Goto Tomohiro Aoyama Akimitu Watanabe Masatoshi Imamura Takashi Enokizono Tatsuyuki Ohto Tetsuo Hori Keiko Suzuki Masaharu Hayashi Kouji Masumoto Ken Inoue |
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| Institution: | 1. Department of Pediatrics, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan;2. Department of Neonatology, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan;3. Department of Pediatric Surgery, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan;4. Department of Pediatric Surgery, University of Tsukuba, Tsukuba, Ibaraki, Japan;5. Department of Pediatrics, University of Tsukuba, Tsukuba, Ibaraki, Japan;6. Department of Pathology, Tsuchiura Kyodo Hospital, Tsuchiura, Ibaraki, Japan;7. College of Nursing and Nutrition, University of Shukutoku, Chiba, Chiba, Japan;8. Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan |
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| Abstract: | In this report, we present the case of a female infant with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) associated with a novel frameshift mutation (c.842dupT) in exon 5, the last exon of SOX10. She had severe hypoganglionosis in the small intestine and entire colon, and suffered from frequent enterocolitis. The persistence of ganglion cells made both the diagnosis and treatment difficult in the neonatal period. She also showed hypopigmentation of the irises, hair and skin, bilateral sensorineural deafness with hypoplastic inner year, severe demyelinating neuropathy with hypotonia, and diffuse brain hypomyelination. The p.Ser282GlnfsTer12 mutation presumably escapes from nonsense‐mediated decay and may generate a dominant‐negative effect. We suggest that hypoganglionosis can be a variant intestinal manifestation associated with PCWH and that hypoganglionosis and aganglionosis may share the same pathoetiological mechanism mediated by SOX10 mutations. |
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