PMC:3506840 / 6582-7343 JSONTXT

{"project":"AxD_symptoms","denotations":[{"id":"T25","span":{"begin":77,"end":94},"obj":"Phenotype"},{"id":"T26","span":{"begin":150,"end":162},"obj":"Phenotype"},{"id":"T27","span":{"begin":167,"end":178},"obj":"Phenotype"},{"id":"T28","span":{"begin":503,"end":512},"obj":"Phenotype"},{"id":"T29","span":{"begin":517,"end":526},"obj":"Phenotype"},{"id":"T30","span":{"begin":647,"end":652},"obj":"Phenotype"},{"id":"T31","span":{"begin":727,"end":744},"obj":"Phenotype"},{"id":"T32","span":{"begin":752,"end":760},"obj":"Phenotype"}],"attributes":[{"id":"A27","pred":"hp_id","subj":"T27","obj":"http://purl.obolibrary.org/obo/HP_0001824"},{"id":"A30","pred":"hp_id","subj":"T30","obj":"http://purl.obolibrary.org/obo/HP_0002664"},{"id":"A32","pred":"hp_id","subj":"T32","obj":"http://purl.obolibrary.org/obo/HP_0002039"},{"id":"A31","pred":"hp_id","subj":"T31","obj":"http://purl.obolibrary.org/obo/HP_0002572"},{"id":"A25","pred":"hp_id","subj":"T25","obj":"http://purl.obolibrary.org/obo/HP_0002572"},{"id":"A26","pred":"hp_id","subj":"T26","obj":"http://purl.obolibrary.org/obo/HP_0004395"},{"id":"A29","pred":"hp_id","subj":"T29","obj":"http://purl.obolibrary.org/obo/HP_0001618"},{"id":"A28","pred":"hp_id","subj":"T28","obj":"http://purl.obolibrary.org/obo/HP_0002015"}],"text":"We present a Japanese patient with genetically confirmed juvenile-onset AxD. Episodic vomiting, which was the only sign of bulbar dysfunction, caused malnutrition and weight loss, probably related to a tiny lesion seen by MRI in dorsal part of medulla oblongata, presumably involving the “area postrema”, which plays an essential role in the system controlling feeding [6]. Similar cases have already been reported [7, 8], but the patients in the literature also had additional bulbar symptoms, such as dysphagia and dysphonia. This case indicates that a molecular analysis of the GFAP gene is warranted in patients with MRI evidence of even tiny tumor-like lesions in the brainstem, particularly if they present with isolated episodic vomiting and/or anorexia."}

{"project":"2_test","denotations":[{"id":"22198646-18079557-75888808","span":{"begin":370,"end":371},"obj":"18079557"},{"id":"22198646-17156703-75888809","span":{"begin":416,"end":417},"obj":"17156703"},{"id":"22198646-19418047-75888810","span":{"begin":419,"end":420},"obj":"19418047"}],"text":"We present a Japanese patient with genetically confirmed juvenile-onset AxD. Episodic vomiting, which was the only sign of bulbar dysfunction, caused malnutrition and weight loss, probably related to a tiny lesion seen by MRI in dorsal part of medulla oblongata, presumably involving the “area postrema”, which plays an essential role in the system controlling feeding [6]. Similar cases have already been reported [7, 8], but the patients in the literature also had additional bulbar symptoms, such as dysphagia and dysphonia. This case indicates that a molecular analysis of the GFAP gene is warranted in patients with MRI evidence of even tiny tumor-like lesions in the brainstem, particularly if they present with isolated episodic vomiting and/or anorexia."}