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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments

Fig. 1

a. Three year old male with a de novo ATP1A3 mutation (V589F). There is gaseous distension of the bowel noted at baseline, suggestive of dysmotility. b. Three year old female with a de novo ATP1A3 mutation (L839P). Videofluoroscopic swallow study demonstrates evidence of orophyarngeal dysfunction complicated by post-swallow residue collection in the pharynx (blue arrow)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172