Neuroimaging and clinical features in type II (late-onset) Alexander disease.

[alexander disease]

To describe the imaging and clinical features in type II (late-onset ) Alexander disease (AxD ).We retrospectively identified all cases of type II AxD evaluated at Mayo Clinic , Rochester from January 1996 to February 2012 . Clinical and neuroimaging data abstracted from the record included age at onset of symptoms , age at diagnosis , first symptom , neurologic symptoms , physical /neurologic findings on examination , genetic testing and /or biopsy (if performed ), and MRI findings .Thirteen patients with type II AxD were identified . Median age at onset was 38 years (range : 12 -63 ). Five patients were female . Eleven of 13 patients had atrophy of the medulla while all 13 had medullary T 2 hyperintensity . In 7 patients , these brainstem regions showed patchy enhancement . Five subjects had T 2 signal change in the middle cerebellar peduncle , with associated contrast enhancement in 4 subjects . Eleven of 12 patients with T 2 fluid-attenuated inversion recovery (FLAIR ) imaging had pial FLAIR signal change in the medulla . Nine of 12 patients with spinal cord imaging had cord atrophy , and 3 of 9 of these evaluated with contrast had cervical cord enhancement .Our study confirms prior reports of atrophy and signal change of the medulla and spinal cord in late-onset AxD . We expand on previous imaging studies by identifying middle cerebellar peduncle and pial FLAIR signal changes as important diagnostic clues . Variable patchy enhancement may occur in regions of T 2 hyperintensity , leading to diagnostic uncertainty . In addition , we demonstrate that previously emphasized clinical features such as palatal tremor may not be common . We affirm that age at onset predicts clinical phenotype and imaging findings .

Diseases
Validation

Diseases presenting "middle cerebellar peduncle" symptom

achondroplasia

alexander disease

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