BSLs are a newly defined spinal MRI finding specifically seen in NMO. In combination with LESCL, BSLs can help differentiate patients with NMO from those with MS with higher sensitivity than LESCL alone.

Diffuse and heterogeneous T2 hyperintense splenial lesions were characteristic of NMO. These findings could help distinguish NMO from MS on MRI.

Patients presenting with pyramidal and/or bulbar signs with abnormalities of the medulla oblongata and cervical spinal cord on MRI should be considered for GFAP analysis as this is the typical presentation of AOAD. Abnormal behaviour and cognitive disorders including deterioration of memory were rare symptoms but could be an obstacle to diagnosing Alexander disease.

Spontaneous intracranial hypotension due to a spinal CSF leak can cause new headaches in young and middle-aged adults. 1 Typically, patients present with orthostatic headaches, but other symptoms have been reported, including neck pain, diplopia, hearing abnormalities, parkinsonism, dementia, and coma. 1 We report a patient with spontaneous intracranial hypotension who presented with acute quadriplegia.Case report. A 54-year-old woman reached backward while sitting in a parked car and suddenly experienced a sensation of "pins and needles" in her head and noticed that she was unable to move her arms and legs. After approximately 30 to 40 seconds, she rapidly regained full strength in her extremities. In the emergency department, a head CT was interpreted as normal, a diagnosis of stroke was made, and aspirin was administered. Approximately 2 hours after the ictus, she noticed pain in the posterior neck and head, which was relieved by the upright position and worsened within minutes of lying down. Two weeks later, MRIs were obtained, and these were interpreted as showing a Chiari malformation and "posttraumatic" changes in the cerebellum and spinal cord. A decompressive craniectomy was recommended, and the patient sought another opinion.Examination showed bilateral Hoffman-Tromner signs, bilateral three-beat ankle clonus, and gait ataxia. CT showed obliteration of the subarachnoid cisterns. MRI showed brain sagging, bilateral cerebellar hemorrhages with blood localized to the superior folia, increased T2 signal abnormality of the spinal cord at the C1 to C2 level, and a small syrinx (figure). A diagnosis of probable spontaneous intracranial hypotension was made. CT myelography, performed 4 months after the ictus, showed a thoracic CSF leak (figure). Opening pressure was 2 cm H 2 O.The cranial paresthesias resolved over a 6-month period, while the neck and head pain persisted. Repeat MRI examinations at 2 months and 1 year revealed persistent abnormalities. Because of the persistent pain and the presence of a cervical myelopathy, a thoracolumbar epidural blood patch was performed. This resulted in resolution of her neck and head pain.Discussion. We describe a patient with acute quadriplegia who was found to have spontaneous intracranial hypotension and a T2 signal abnormality of the cervical spinal cord on MRI. Quadriplegia is a previously unreported manifestation of spontaneous intracranial hypotension. However, other signs and symptoms of cervical myelopathy have been described in patients with sponta-neous intracranial hypotension who had cervical epidural fluid collections or syringomyelia on MRI. 2,3 Cervical myelopathy also has been reported in patients with intracranial hypotension due to overdraining ventriculo-or lumboperitoneal shunts who had cervical epidural fluid collections or dilated epidural veins on MRI. 4 We hypothesize that a sudden loss of a large amount of CSF caused severe hindbrain herniation associated with compression of the upper cervical spinal cord, resulting in transient quadriplegia a...

Alexander disease (AxD) is a rare neurodegenerative disorder. Most patients with AxD have a de novo dominant missense mutation in the glial fibrillary acidic protein (GFAP) gene. Patients with late-onset AxD exhibit a more variable onset and severity than patients with early-onset AxD, suggesting the existence of factors that modify the clinical phenotype of late-onset AxD. A -250-bp C/A single-nucleotide polymorphism (SNP) of the GFAP promoter (rs2070935) in the activator protein-1 binding site is a candidate factor for modification of the clinical phenotype. We analyzed the SNP in 10 patients with late-onset AxD and evaluated the effects of the SNP on the clinical course of late-onset AxD. Three of four cases with the C/C genotype lost the ability to walk in their 30s or 40s, whereas all six cases with the other genotypes retained the ability to walk throughout their 30s. The age of onset in patients with the C/C genotype was significantly earlier than in patients with the other genotypes (P<0.05). A more severe phenotype was observed in the patient in whom the C allele of rs2070935 was in cis with the GFAP mutation compared with the patient in whom the C allele of rs2070935 was in trans with the GFAP mutation. Our investigation revealed the possibility that the C/C genotype at rs2070935 of the GFAP promoter in late-onset AxD was associated with an earlier onset and a more rapid progression of ambulatory disability compared with the other genotypes.

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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.M74T. 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.