A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy.

[alexander disease]

We present here a 25 -year -old woman with genetically confirmed (p .R 276 L mutation in the GFAP gene ) juvenile -onset AxD . Episodic vomiting appeared at age nine , causing anorexia and insufficient growth . Brain MRI at age 11 showed a small nodular lesion with contrast enhancement in the left dorsal portion of the cervicomedullary junction . Her episodic vomiting improved spontaneously at age 13 , and she became neurologically asymptomatic . The enhancement of the lesion disappeared simultaneously , although the plaque remained . Longitudinal MRI observations , however , revealed insidiously progressive cervicomedullary atrophy without a signal change . This case broadens our knowledge of AxD : (1 ) molecular analysis of the GFAP gene is warranted in patients with MRI evidence of tumor -like lesions in the brainstem , particularly if they present with isolated episodic vomiting and /or anorexia ; (2 ) the disease can be self-remitting for at least 12 years ; (3 ) cervicomedullary atrophy , characteristic of the adult form , can be insidiously progressive without a signal change before the clinical symptoms appear .