Key Clinical MessageThoroughly planned labor with immediate postnatal resuscitation and percutaneous decompression is mandatory for a large mediastinal lymphangioma that compromises the cardiopulmonary function, and close observation with the administration of Eppikajutsuto (TJ‐28), a Japanese herbal medicine, may be a reasonable treatment, especially when resection of the lesion seems technically challenging.

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. K E Y W O R D S dominant-negative effect, hypoganglionosis, nonsense-mediated mRNA decay, peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease, SOX10 transcription factor

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