1/63. Asymmetrical polyneuropathy with a stepwise progressive course and well-demarcated areas of demyelination.A female patient was 12 years old when she presented with hemiatrophy and muscle weakness on the right side of her body. Then a stepwise worsening occurred, and at 19 years of age sensory symptoms were also noticed, as well as a mild involvement of the left part of her body. The cerebrospinal fluid (CSF) protein level was elevated without cells. The main electrophysiological abnormality was a marked temporal dispersion of the compound muscle action potentials (CMAPs). Motor nerve conduction velocities were moderately reduced. A superficial peroneal nerve biopsy revealed well-demarcated areas of demyelination with prominent Schwann cell hyperplasia. Neither deletion nor duplication of the PMP22 gene nor mutation of the P0 or connexin 32 genes was found by molecular genetic investigations. immunotherapy was administered, and over the next 6 years the symptomatology fluctuated. This unusual disorder seems to be a variant of chronic acquired demyelinating polyneuropathy and may be immunologically mediated.- - - - - - - - - - ranking = 1keywords = cell (Clic here for more details about this article) |
2/63. Polyneuropathy with osmiophilic membrane-bound, cytoplasmic inclusions in schwann cells (POMCIS).In the cytoplasm of schwann cells of a sural nerve biopsy from a 21-year-old female patient with chronic neuropathy we noted numerous unique, usually double membrane-bound, osmiophilic, granular or globular inclusions, approximately 30-600 microm in diameter. Some of these membrane-bound vesicular or tubular structures contained less dense or no osmiophilic inclusions. Morphometry revealed a reduction of the myelin area per endoneural area to approximately 13% (normal value: 20- 30%) and of the density of myelinated nerve fibers to 5,412/mm(2) (normal value at this age: 6,000-9,000/mm(2)). Large myelinated nerve fibers were predominantly reduced in number, and no myelinated nerve fibers with diameters larger than 4.5 microm were seen. Numerous, usually small onion bulb formations indicated a predominantly demyelinating type of neuropathy. This is to the best of our knowledge the first case of a chronic demyelinating neuropathy in which this kind of presumably pathognostic deposits in the cytoplasm of schwann cells was detected.- - - - - - - - - - ranking = 3keywords = cell (Clic here for more details about this article) |
3/63. Neuromyotonia, myocloni, sensory neuropathy and cerebellar symptoms in a patient with antibodies to neuronal nucleoproteins (anti-Hu-antibodies).A middle-aged patient presented with subacute muscular stiffness, myocloni of both extremity and facial muscles, gait ataxia and symmetrical distal painful paraesthesias. Electrophysiologically, neuromyotonia was confirmed. High titer anti-Hu antibodies were detected, but no other paraneoplastic antibodies were found. Small-cell lung cancer was diagnosed. Under chemotherapy tumor remission was achieved and, except for minor sensory deficits, neurological symptoms disappeared. This report shows that paraneoplastic syndromes associated with antibodies to neuronal nucleoproteins (anti-Hu antibodies) may be associated with a syndrome including neuromyotonia, sensory neuropathy, cerebellar symptoms and myocloni.- - - - - - - - - - ranking = 0.5keywords = cell (Clic here for more details about this article) |
4/63. A baboon syndrome induced by intravenous human immunoglobulins: report of a case and immunological analysis.Following the second series of intravenous human immunoglobulins (IVIg; 0.4 g/kg) prescribed to treat a sensorimotor polyneuritis, a 28-year-old woman developed pompholyx that recurred after each of the following monthly treatments with IVIg. During the administration of the 10th series, the patient developed a typical baboon syndrome. Immunohistochemical studies of a skin biopsy revealed an unexpected epidermal expression of p-selectin, usually expressed by endothelial cells. Patch, prick and intradermal tests performed with IVIg on the back, arms and buttocks gave negative results on immediate and delayed readings. IVIg were re-administered, with the informed consent of the patient, and induced a generalized maculopapular rash. This is the first reported case of baboon syndrome induced by IVIg. Although extensive skin testing was performed, all test sites remained negative. We wonder whether IVIg could reproduce immunological mechanisms involved in the 3 types of systemic contact dermatitis (pompholyx, baboon syndrome and maculopapular rash), including the epidermal expression of p-selectin.- - - - - - - - - - ranking = 0.5keywords = cell (Clic here for more details about this article) |
5/63. Jugular foramen syndrome caused by varicella zoster virus infection in a patient with ipsilateral hypoplasia of the jugular foramen.We report a patient with acute cranial polyneuropathy with unilateral involvement of the ninth, tenth, and eleventh cranial nerves. Although this patient lacked a typical cutaneous herpetic manifestation, elevated levels of IgM and IgG antibodies to varicella zoster virus (VZV) in both the serum and cerebrospinal fluid confirmed the clinical diagnosis of VZV infection and zoster sine herpete. Coexisting hypoplasia of the ipsilateral jugular foramen was detected using three-dimensional, surface-rendering displays reconstructed from the cranial helical CT scan. The patient recovered almost completely following treatment with an anti-inflammatory corticosteroid. Anatomical narrowing of the jugular foramen in this patient may have contributed to entrapment of the affected nerves at their passage through the foramen.- - - - - - - - - - ranking = 2.5keywords = cell (Clic here for more details about this article) |
6/63. A novel mutation in the FcgammaRIIIA gene (CD16) results in active natural killer cells lacking CD16.We report a novel mutation in FcgammaRIIIA (the transmembrane-form CD16) on natural killer (NK) cells in a patient with polyneuropathy. She had no history of recurrent infections. Her NK cells expressed no detectable CD16; however, her NK cytotoxic activity was normal, suggesting that CD16 expression and cytotoxic activity are independent of one another. Molecular analysis revealed a deletion of a single adenine base in exon 4 of CD16 at nucleotide 550. This deletion generates a STOP codon in an extra-cellular domain of the FcgammaRIIIA gene, thereby truncating the CD16 molecule. The patient's NK cells were not recognized by the anti-CD16 monoclonal antibodies 3G8 and Leu11c. Whether the development of her polyneuropathy is associated with this novel mutation is unclear.- - - - - - - - - - ranking = 4keywords = cell (Clic here for more details about this article) |
7/63. Langerhans' cell histiocytosis: report of an atypical case.A patient is described with Langerhans' cell histiocytosis and polyneuropathy diagnosed 12 years after the development of diabetes insipidus after head trauma.- - - - - - - - - - ranking = 2.5keywords = cell (Clic here for more details about this article) |
8/63. Severe polyneuropathy in a patient with churg-strauss syndrome.We describe the clinicopathologic features of a 56-year-old woman affected with churg-strauss syndrome with major peripheral nerve involvement. The patient presented with a 1-month history of mainly distal upper-limb symmetrical paresthesias and hypostenia (bilateral "wrist drop"), palpable purpura and eosinophilia. Multiple pulmonary infiltrates and asthma had been present since the age of 52. skin biopsy demonstrated an eosinophilic necrotizing vasculitis. During the hospitalization she was submitted to cardiac, bronchopulmonary, renal, and gastrointestinal evaluation and EMG. Peripheral nerve and skeletal muscle biopsies were performed. sural nerve biopsy showed a marked degree of demyelination. A perivascular cellular infiltrate within the epineurium was immunoreactive for T lymphocytes and macrophages. Strong HLA-DR immunostaining was present in the endoneurium. IgM, IgE and fibrinogen deposition was found in some epi- and endoneurial vessels. Muscle biopsy showed neurogenic changes and 1 thrombosed vessel surrounded by mononuclear cells. Membrane attack complex (MAC) deposition was present in a few capillaries and major histocompatibility complex products I (MHCP I) was expressed at the subsarcolemmal level in a few isolated perivascular muscle fibers. After immunosuppressive therapy, the patient showed progressive improvement of both clinical symptoms and neurophysiological parameters.- - - - - - - - - - ranking = 1keywords = cell (Clic here for more details about this article) |
9/63. Perineurial cell hyperplasia in early-onset polyneuropathy with multiple cranial neuropathies.We describe a patient who as a teenager developed a sensory-motor polyneuropathy with optic atrophy. Over the next three decades, multiple cranial neuropathies appeared. Striking areas of subperineurial cellular proliferation were observed on sural nerve biopsy. The ultrastructural and immunohistochemical characteristics of these aggregates were those of perineurial cell hyperplasia. To our knowledge, this is the second full report associating perineurial cell hyperplasia with a sensory-motor polyneuropathy and the first in the English literature.- - - - - - - - - - ranking = 3.5keywords = cell (Clic here for more details about this article) |
10/63. adult-onset MLD: a gene mutation with isolated polyneuropathy.A 22-year-old man presented with recurrent ulnar mononeuropathies and diffusely slow nerve conduction velocities. Arylsulfatase A (ASA) activity from leukocytes and fibroblasts was reduced, and urinary sulfatides were increased. sural nerve biopsy revealed a reduction in myelinated fibers and Schwann cell inclusions. Results of studies of CNS integrity, including cranial MRI, evoked potentials, and neuropsychologic tests, were normal. Molecular genetic analyses revealed a novel homozygous missense mutation (Thr286Pro) in the ASA gene.- - - - - - - - - - ranking = 0.5keywords = cell (Clic here for more details about this article) |
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