PMC:3506840 / 6571-9997 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/3506840","sourcedb":"PMC","sourceid":"3506840","source_url":"https://www.ncbi.nlm.nih.gov/pmc/3506840","text":"Discussion\nWe 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.\nIt is noteworthy that the bulbar symptom of this patient regressed spontaneously. She is now 25 years old, and is absolutely free of neurological symptoms, except for short stature with scoliosis, presumably a sign of AxD [9]. This case suggests that the symptoms of AxD can be self-remitting, unlike those of other neurodegenerative disorders, and that the prognosis might not necessarily be unfavorable. To our knowledge, no other AxD patient whose symptoms vanished for such a long period of time has been reported in the literature. Very recently, a case of adult-onset AxD with remission and relapse was reported, but the remission was only partial and lasted less than 5 years [10]; atypical AxD has been mistaken for remitting–relapsing multiple sclerosis [1]. Because the cervicomedullary atrophy continues to progress in our patient (Fig. 1B), she might still develop an adult form of the disease in the future.\nThe longitudinal observation of progressive cervicomedullary atrophy, which is characteristic of the adult AxD [4, 5], is interesting. It has been speculated that brainstem atrophy in the adult form of AxD might result from tissue damage related to the contrast enhanced nodular and/or swollen lesions usually observed in the juvenile form of the disease. A recent report of a patient with progressive medullary atrophy has reinforced this hypothesis [11]. The 20-year-old patient had an expanded cervicomedullary lesion with patchy contrast enhancement; progressive atrophy was observed 5.5 years later [11].\nOur case differs, however, in that the medullary lesion was confined to a tiny portion of the dorsal region, and seems too small to be responsible for expansion of the cervicomedullary lesion, suggesting that the latter, which is reminiscent of chronic progressive neuro-Behçet’s disease, results from a different pathological process. [12]. In neuro-Behçet’s disease, subacute brainstem encephalitis, which is the most common in parenchymal involvement, shows hypertense T2 lesion with contrast enhancement. Spontaneous self-remission without therapy has been reported, although, some patients develop a slowly progressive disease with insidiously advancing brainstem atrophy [12].\nObservation of our patient for over 14 years, allowed us to demonstrate, for the first time, that the marked cervicomedullary atrophy characteristic of adult-onset AxD might result from an insidiously progressive process. More patients will be needed to determine whether a nodular lesion with contrast enhancement, however small, is essential to trigger the cervicomedullary atrophy or whether the mutation in the GFAP gene is sufficient.","divisions":[{"label":"title","span":{"begin":0,"end":10}},{"label":"p","span":{"begin":11,"end":772}},{"label":"p","span":{"begin":773,"end":1693}},{"label":"p","span":{"begin":1694,"end":2303}},{"label":"p","span":{"begin":2304,"end":2986}}],"tracks":[{"project":"AxD_symptoms","denotations":[{"id":"T25","span":{"begin":88,"end":105},"obj":"Phenotype"},{"id":"T26","span":{"begin":161,"end":173},"obj":"Phenotype"},{"id":"T27","span":{"begin":178,"end":189},"obj":"Phenotype"},{"id":"T28","span":{"begin":514,"end":523},"obj":"Phenotype"},{"id":"T29","span":{"begin":528,"end":537},"obj":"Phenotype"},{"id":"T30","span":{"begin":658,"end":663},"obj":"Phenotype"},{"id":"T31","span":{"begin":738,"end":755},"obj":"Phenotype"},{"id":"T32","span":{"begin":763,"end":771},"obj":"Phenotype"},{"id":"T33","span":{"begin":940,"end":953},"obj":"Phenotype"},{"id":"T34","span":{"begin":959,"end":968},"obj":"Phenotype"},{"id":"T35","span":{"begin":1857,"end":1874},"obj":"Phenotype"},{"id":"T36","span":{"begin":2692,"end":2704},"obj":"Phenotype"},{"id":"T37","span":{"begin":2963,"end":2980},"obj":"Phenotype"}],"attributes":[{"id":"A27","pred":"hp_id","subj":"T27","obj":"http://purl.obolibrary.org/obo/HP_0001824"},{"id":"A36","pred":"hp_id","subj":"T36","obj":"http://purl.obolibrary.org/obo/HP_0002383"},{"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":"A34","pred":"hp_id","subj":"T34","obj":"http://purl.obolibrary.org/obo/HP_0002650"},{"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":"A35","pred":"hp_id","subj":"T35","obj":"http://purl.obolibrary.org/obo/HP_0007366"},{"id":"A37","pred":"hp_id","subj":"T37","obj":"http://purl.obolibrary.org/obo/HP_0007366"},{"id":"A33","pred":"hp_id","subj":"T33","obj":"http://purl.obolibrary.org/obo/HP_0004322"},{"id":"A28","pred":"hp_id","subj":"T28","obj":"http://purl.obolibrary.org/obo/HP_0002015"},{"subj":"T25","pred":"source","obj":"AxD_symptoms"},{"subj":"T26","pred":"source","obj":"AxD_symptoms"},{"subj":"T27","pred":"source","obj":"AxD_symptoms"},{"subj":"T28","pred":"source","obj":"AxD_symptoms"},{"subj":"T29","pred":"source","obj":"AxD_symptoms"},{"subj":"T30","pred":"source","obj":"AxD_symptoms"},{"subj":"T31","pred":"source","obj":"AxD_symptoms"},{"subj":"T32","pred":"source","obj":"AxD_symptoms"},{"subj":"T33","pred":"source","obj":"AxD_symptoms"},{"subj":"T34","pred":"source","obj":"AxD_symptoms"},{"subj":"T35","pred":"source","obj":"AxD_symptoms"},{"subj":"T36","pred":"source","obj":"AxD_symptoms"},{"subj":"T37","pred":"source","obj":"AxD_symptoms"}]},{"project":"2_test","denotations":[{"id":"22198646-18079557-75888808","span":{"begin":381,"end":382},"obj":"18079557"},{"id":"22198646-17156703-75888809","span":{"begin":427,"end":428},"obj":"17156703"},{"id":"22198646-19418047-75888810","span":{"begin":430,"end":431},"obj":"19418047"},{"id":"22198646-19084454-75888811","span":{"begin":996,"end":997},"obj":"19084454"},{"id":"22198646-20562394-75888812","span":{"begin":1457,"end":1459},"obj":"20562394"},{"id":"22198646-12447932-75888813","span":{"begin":1806,"end":1807},"obj":"12447932"},{"id":"22198646-17509491-75888814","span":{"begin":2146,"end":2148},"obj":"17509491"},{"id":"22198646-17509491-75888815","span":{"begin":2299,"end":2301},"obj":"17509491"},{"id":"22198646-19161910-75888816","span":{"begin":2641,"end":2643},"obj":"19161910"},{"id":"22198646-19161910-75888817","span":{"begin":2982,"end":2984},"obj":"19161910"}],"attributes":[{"subj":"22198646-18079557-75888808","pred":"source","obj":"2_test"},{"subj":"22198646-17156703-75888809","pred":"source","obj":"2_test"},{"subj":"22198646-19418047-75888810","pred":"source","obj":"2_test"},{"subj":"22198646-19084454-75888811","pred":"source","obj":"2_test"},{"subj":"22198646-20562394-75888812","pred":"source","obj":"2_test"},{"subj":"22198646-12447932-75888813","pred":"source","obj":"2_test"},{"subj":"22198646-17509491-75888814","pred":"source","obj":"2_test"},{"subj":"22198646-17509491-75888815","pred":"source","obj":"2_test"},{"subj":"22198646-19161910-75888816","pred":"source","obj":"2_test"},{"subj":"22198646-19161910-75888817","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"AxD_symptoms","color":"#ec9393","default":true},{"id":"2_test","color":"#93adec"}]}]}}