Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS).

The classification and pathological mechanisms of many central nervous system inflammatory diseases remain uncertain. In this article we report eight patients with a clinically and radiologically distinct pontine-predominant encephalomyelitis we have named 'chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids' (CLIPPERS). The patients were assessed clinically, radiologically and pathologically at Mayo Clinic, USA and Ghent University Hospital, Belgium from 1999 to 2009. Median follow-up duration from clinical onset was 22 months (range 7-144 months). Patients underwent extensive laboratory (serum and cerebrospinal fluid), radiological and pathological testing (conjunctival, transbronchial and brain biopsies) to search for causes of an inflammatory central nervous system disorder. All eight patients (five female, three male) presented with episodic diplopia or facial paresthesias with subsequent brainstem and occasionally myelopathic symptoms and had a favourable initial response to high dose glucocorticosteroids. All patients had symmetric curvilinear gadolinium enhancement peppering the pons and extending variably into the medulla, brachium pontis, cerebellum, midbrain and occasionally spinal cord. Radiological improvement accompanied clinical response to glucocorticosteroids. Patients routinely worsened following glucocorticosteroid taper and required chronic glucocorticosteroid or other immunosuppressive therapy. Neuropathology of biopsy material from four patients demonstrated white matter perivascular, predominantly T lymphocytic, infiltrate without granulomas, infection, lymphoma or vasculitis. Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids is a definable, chronic inflammatory central nervous system disorder amenable to immunosuppressive treatment. The T cell predominant inflammatory pathology in affected central nervous system lesions and the clinical and radiological response to immunosuppressive therapies is consistent with an immune-mediated process.

Anomalous vertebral artery compression of the spinal cord at the cervicomedullary junction.

BACKGROUND: Myelopathy from ectatic vertebral artery compression of the spinal cord at the cervicomedullary junction is a rare condition. CASE DESCRIPTION: A 63-year-old female was originally diagnosed with occult hydrocephalus syndrome after presenting with symptoms of ataxia and urinary incontinence. Ventriculoperitoneal shunting induced an acute worsening of the patient's symptoms as she immediately developed a sensory myelopathy. An MR scan demonstrated multiple congenital abnormalities including cervicomedullary stenosis with anomalous vertebral artery compression of the dorsal spinal cord at the cervicomedullary junction. The patient was taken to surgery for a suboccipital craniectomy, C1-2 laminectomy, vertebral artery decompression, duraplasty, and shunt ligation. Intraoperative findings confirmed preoperative radiography with ectactic vertebral arteries deforming the dorsal aspect of the spinal cord. There were no procedural complications and at a 6-month follow-up appointment, the patient had experienced a marked improvement in her preoperative signs and symptoms. CONCLUSION: Myelopathy from ectatic vertebral artery compression at the cervicomedullary junction is a rare disorder amenable to operative neurovascular decompression.

Familial cardioneuromyopathy with hyaline masses and nemaline rods: a novel phenotype.

Two siblings (patients 1 and 2) had adult-onset muscle weakness that was greater distally than proximally, as well as respiratory insufficiency, cardiomyopathy, and cervical spine anomalies. Electromyography studies indicated myopathy and findings consistent with neuropathy in both. In the deltoid muscle of patient 1 and the anterior tibial muscle of patient 2, myriad type 1 fibers harbored large, irregularly polygonal, and mostly central hyaline masses, small vacuoles, and nemaline rods flanking the hyaline masses or congregated under the sarcolemma. The hyaline masses are intensely congophilic; react strongly for desmin, alphaB-crystallin, alpha1-antichymotrypsin, and ubiquitin and variably for gelsolin and dystrophin; and are devoid of alpha-actinin, nebulin, titin, and slow myosin. The presence of ubiquitin, gelsolin, and fragmented filaments, and the absence of nebulin, titin, alpha-actinin, and slow myosin in the hyaline masses, signal nonlysosomal protein degradation. Ultrastructurally, the hyaline masses are composed of intermediate-density amorphous material intermingled with fragmented filaments and irregularly branching, pleomorphic, highly electron-dense material, resembling the hyaline structures of myofibrillar myopathy. We conclude that the pathological process in this syndrome is one that induces destruction of myofibrillar components, resulting in aggregation of the degraded residues in hyaline masses, and causes replication of Z disks, resulting in formation of nemaline rods.