Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement

AbstractIn this report, we describe the case of a new Japanese family (32 to 64years old; 2 females and 1 male) affected by adult-onset Alexander disease. Clinically, one member (age at onset, 56years old) developed cerebellar ataxia, another (age at onset, 55years old) showed cerebellar ataxia and pseudobulbar signs, and one member (32years old) was asymptomatic. Marked atrophy of the medulla oblongata and spinal cord was detected in the two symptomatic patients by magnetic resonance imaging (MRI). However, in the asymptomatic patient, cervicomedullary atrophy was mild. Hyperintensity signals in the medulla oblongata were detected in the two symptomatic patients, but not in the asymptomatic patient. In addition, there are symmetrical hyperintensity signals in the posterior part of the globus pallidus on T2-weighted images in the two symptomatic patients, which are rarely observed in adult-onset Alexander disease. Molecular genetic analysis revealed a novel missense mutation (p. D78N) in the glial fibrillary acidic protein (GFAP) gene in this family. The typical atrophy of the medulla oblongata and upper cervical cord detected by MRI is the diagnostic feature of adult-onset Alexander disease. Genetic analysis of the GFAP gene is recommended for all patients with late-onset progressive ataxia and suspected of having adult-onset Alexander disease on the basis of MRI findings. Additionally, these characteristic MRI patterns might even lead to the identification of asymptomatic cases, as in one of our cases

Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature

<p>Abstract</p> <p>Background</p> <p>Alexander disease (ALX) is a rare neurological disorder characterized by white matter degeneration and cytoplasmic inclusions in astrocytes called Rosenthal fibers, labeled by antibodies against glial fibrillary acidic protein (GFAP). Three subtypes are distinguished according to age at onset: infantile (under age 2), juvenile (age 2 to 12) and adult (over age 12). Following the identification of heterozygous mutations in <it>GFAP </it>that cause this disease, cases of adult-onset ALX have been increasingly reported.</p> <p>Case Presentation</p> <p>We present a 60-year-old Japanese man with an unremarkable past and no family history of ALX. After head trauma in a traffic accident at the age of 46, his character changed, and dementia and dysarthria developed, but he remained independent. Spastic paresis and dysphagia were observed at age 57 and 59, respectively, and worsened progressively. Neurological examination at the age of 60 revealed dementia, pseudobulbar palsy, left-side predominant spastic tetraparesis, axial rigidity, bradykinesia and gaze-evoked nystagmus. Brain MRI showed tadpole-like atrophy of the brainstem, caused by marked atrophy of the medulla oblongata, cervical spinal cord and midbrain tegmentum, with an intact pontine base. Analysis of the <it>GFAP </it>gene revealed a heterozygous missense mutation, c.827G>T, p.R276L, which was already shown to be pathogenic in a case of pathologically proven hereditary adult-onset ALX.</p> <p>Conclusion</p> <p>The typical tadpole-like appearance of the brainstem is strongly suggestive of adult-onset ALX, and should lead to a genetic investigation of the <it>GFAP </it>gene. The unusual feature of this patient is the symmetrical involvement of the basal ganglia, which is rarely observed in the adult form of the disease. More patients must be examined to confirm, clinically and neuroradiologically, extrapyramidal involvement of the basal ganglia in adult-onset ALX.</p

A case of acute spinal subdural hematoma with subarachnoid hemorrhage: Rapid spontaneous remission, relapse, and complete resolution

Acute spinal subdural hematoma (SSDH) is a rare entity that is usually managed as a surgical emergency; however, we present a case of acute SSDH that resolved rapidly and spontaneously. A 59-year-old man, who was taking antiplatelet and antihypertensive medication, experienced sudden back neck pain, followed by complete paraplegia. The symptoms resolved within minutes and then recurred before resolving completely within several hours. Magnetic resonance imaging (MRI) performed 6 h from onset revealed an intradural spinal hematoma. Lumbar puncture yielded bloody cerebrospinal fluid, confirming the presence of a subarachnoid hemorrhage. Conservative therapy was selected, leading to complete recovery without any sequelae. Follow-up MRI scans obtained 12 days from onset finally confirmed that the spinal hematoma was in the subdural space. In addition to rostrocaudal spreading of bloody components in the subdural space, rupture of the hematoma into the subarachnoid space must have released pressure, compressing the spinal cord. In this case report, we also describe the serial MRI studies and note the limitations of the resolution of spinal MRI in the acute phase

Additional file 1 of Achievement of adequate nutrition contributes to maintaining the skeletal muscle area in patients with sepsis undergoing early mobilization: a retrospective observational study

Supplementary Material 1