A case of adult-onset alexander disease featuring severe atrophy of the medulla oblongata and upper cervical cord on magnetic resonance imaging.

[alexander disease]

Adult-onset Alexander disease (AOAD ) has been increasingly recognized since the identification of the glial fibrillary acidic protein gene mutation in 2001 . We report on a 56 -year -old man who was genetically confirmed as AOAD with the glial fibrillary acidic protein mutation of p .M 74 T . He developed spastic tetraparesis , sensory disturbances in four limbs , and mild cognitive impairment without apparent dysarthria and dysphagia . The case was characterized by severe atrophy of the medulla oblongata and upper cervical cord with intramedullary signal intensity changes on magnetic resonance imaging . While AOAD is diverse in clinical presentation , the peculiar magnetic resonance imaging findings of marked atrophy of the medulla oblongata and cervical cord are thought to be highly suggestive of the diagnosis of AOAD .

Diseases
Validation

Diseases presenting "dysphagia" symptom

alexander disease

cadasil

cushing syndrome

dedifferentiated liposarcoma

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

inclusion body myositis

kindler syndrome

liposarcoma

locked-in syndrome

neuralgic amyotrophy

oligodontia

triple a syndrome

well-differentiated liposarcoma

This symptom has already been validated