Table 1.

Differential diagnosis of peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease

Disease/condition	Supporting features	Differentiating features
Hypomcelanosis of Ito	Congenital hypopigmentation of the skin Subtle iris and choroidal hypopigmentation10 Seizure and intellectual disability Ataxia, neuropathy, hypotonia and hearing loss MRI may show white matter abnormalities (involving the parietal periventricular and deep cortical white matter) and hypoplastic corpus callosum11	Pattern of hypopigmentation usually unilateral, Blaschkoid patches, whorls or streaks Ocular findings are seen in a quarter of patients but are generally non-specific such as corneal asymmetry, cataracts and micro or macrophthalmos10 Not associated with Hirschsprung disease May have hemihypertrophy on the side of hypopigmentation Other brain imaging findings include neuronal heterotropias, hemimegalencephaly and cerebellar hypoplasia11
Tuberous sclerosis (TS)	Skin hypopigmentation (ash-leaf macules) Seizures and developmental delay	Brain imaging typically shows subependymal hamartomas and subcortical tubers White matter changes on MRI usually demonstrate more distinct patterns such as thin bands of abnormal signal intensities or wedge-shaped lesions11 No other major cutaneous features of TS such as shagreen patch and angiofibroma Most common eye finding is ocular hamartoma and, very rarely, hypopigmented iris spots12
Vitiligo (segmental)	Patches of skin hypopigmentation and asymmetrical distribution	Not usually associated with any neurological/extracutaneous manifestations No iris involvement Usually acquired
Partial albinism	Patches of skin hypopigmentation and white forelock	Extracutaneous and ocular manifestations are not described12