Introduction
Typical Alexander disease (AxD) (OMIM #203450) is a lethal infantile leukoencephalopathy with frontal predominance characterized by Rosenthal fiber deposition in astrocytes (reviewed in [1]). The discovery that mutations in the gene coding glial fibrillary acidic protein (GFAP) are responsible for AxD has led to the identification of both juvenile (age at onset: 2–12 years) and adult (age at onset: over 12 years) forms of the disease. Each subtype is characterized by specific MRI findings: in the juvenile form, tumor-like nodular and/or swollen lesions in the brainstem [2, 3]; in the adult form, a distinctive tadpole-like brainstem atrophy, consisting of severe atrophy of the medulla oblongata and cervical spinal cord, with an intact pontine base [4, 5]. The reason for the age-related variability of the lesions in AxD remains unclear.
We present here a novel case of genetically confirmed AxD. The patient’s episodic vomiting improved spontaneously and she became neurologically asymptomatic, although longitudinal observations for more than 12 years revealed insidiously progressive cervicomedullary atrophy.