1/59. XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.We report on a family with severe X-linked mental retardation (XLMR) and progressive, severe central nervous system deterioration. Three of the five affected males died of secondary complications before the age of 10 years and none have survived past the age of 10. These complications included swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections. In addition, hypotonia and a mild myopathy were also present. All had a characteristic facies, including downslanting palpebral fissures, hypertelorism, and a short nose with a low nasal bridge. The two older boys showed cerebral atrophy by CT. No metabolic abnormalities were identified. Three obligate carriers had an IQ less than 80. The causal gene has been localized distal to DXS8103 in Xq28, a region spanning 5cM. No other XLMR disorder with these manifestations have been localized to this region and this appears to be a new disorder.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
2/59. Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patient.We report a patient with congenital muscular dystrophy (CMD), developmental brain defects, and peripheral neuropathy. Marked hypotonia and plagiocephaly were noted at birth. failure to thrive, generalized muscle weakness and wasting, absent deep tendon reflexes, partial seizures, and secondary microcephaly developed. brain MRI showed a large area of cortical dysplasia, a thin but complete corpus callosum, and diffuse ventriculomegaly. Nerve conduction velocities were slow and creatine kinase levels only mildly elevated. Muscle biopsy showed dystrophic features with normal merosin, sarcoglycan, and dystrophin immunostaining. The Japanese Fukuyama CMD founder mutation was not detected. This is the first report of a patient with merosin-positive CMD, cobblestone lissencephaly, and demyelinating peripheral neuropathy.- - - - - - - - - - ranking = 640.44165536264keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
3/59. Acute dilated cardiomyopathy and central nervous system toxicity following propranolol intoxication.OBJECTIVE: We report a case of a 16-year-old boy who developed central nervous system (CNS) depression and acute dilated cardiomyopathy following ingestion of 3200 mg of propranolol in a suicide attempt. Early echocardiographic findings were the only sign of cardiac toxicity. DESIGN: A case report. SETTING: Pediatric intensive care unit of a teaching hospital. RESULTS: This child developed significant acute dilated cardiomyopathy and severe CNS depression 2 hours after ingesting 3200 mg of propranolol. The child was treated with gastric lavage, activated charcoal, and mechanical ventilation. Following the echocardiographic findings, treatment with isoprenaline hydrochloride and glucagon were given intravenously. Echocardiographic examination 12 hours following treatment showed normal left ventricular size and function. No change in pulse rate or blood pressure was reported on admission and during his hospitalization. DISCUSSION: In the early stages of propranolol and other lipophilic beta-blocker intoxication, severe CNS depression can develop in the absence of clinical signs of cardiac toxicity. Early echocardiographic evaluation is important and may prevent delay in diagnosis and treatment of cardiac toxicity.- - - - - - - - - - ranking = 6keywords = myopathy (Clic here for more details about this article) |
4/59. Treatment of Wegener's granulomatosis with immune globulin: CNS involvement in an adolescent female.OBJECTIVE: To describe the use of intravenous immune globulin (IVIG) to treat Wegener's granulomatosis (WG) in an adolescent female with an abnormal magnetic resonance imaging (MRI) scan and electroencephalogram (EEG), as well as central nervous system involvement manifesting as generalized seizures. CASE SUMMARY: A 15-year-old white girl diagnosed with WG and receiving prednisone and cyclophosphamide was admitted with new-onset tonic-clonic seizures. The patient received phenobarbital and phenytoin to control seizures and was receiving cyclophosphamide and corticosteroids for WG. She developed cyclophosphamide-induced cystitis and was started on a four-day therapeutic course of IVIG following the discontinuation of cyclophosphamide. After 16 days of hospitalization, repeat EEG and MRI were within normal limits, and laboratory and clinical improvement was evident in at least nine of the affected organ systems including pulmonary, hematologic, renal, ocular, cutaneous, musculoskeletal, central nervous system, gastrointestinal, and genitourinary. The patient was discharged with clinical involvement of WG documented in two organ systems, hematologic and renal. DISCUSSION: WG is a form of vasculitis believed to develop due to an autoimmune disorder. The diagnosis is based on radiographic and histopathologic findings, as well as the presence of elevated antineutrophil cytoplasmic antibodies and a suggestive clinical presentation. The presentation is widely variable and is most commonly associated with upper-airway involvement such as sinusitis, cough, pulmonary infiltrates, and cavitary nodules. Renal involvement signifies generalized disease. Conventional treatment for WG includes cyclophosphamide and prednisone. Little information is available describing therapeutic alternatives. Cytotoxicity related to immunosuppressant regimens limits continuous treatment and may necessitate the use of alternative agents. CONCLUSIONS: This case describes the use of IVIG in an adolescent patient presenting with WG as a generalized, active disease with neurologic complications. IVIG may be useful in generalized, active WG complicated by intolerance to cyclophosphamide and seizures, but further study is necessary to define its role.- - - - - - - - - - ranking = 5.6951163336576keywords = ocular (Clic here for more details about this article) |
5/59. Intracranial meningeal involvement in churg-strauss syndrome.We describe the case of a 54-year-old woman with a clinical diagnosis of churg-strauss syndrome (CSS). The patient had a fever of unknown origin, severe headache, progressing left ophthalmoplegia, and visual acuity disturbance. MR imaging revealed diffuse and thick hypointense lesions on T2-weighted images in the frontal meninges and anterior falx cerebri with diffuse enhancement. Similar lesions were also detected in the left superior ophthalmic fissure to the cavernous sinus. Nodular lesions in the fourth ventricle, which might have been the cause of hydrocephalus, were hypointense on T2-weighted images. These MR imaging findings suggested remote granulomatous involvement in the meninges and choroid plexus associated with CSS. To our knowledge, remote meningeal involvement in association with CSS has not been previously reported.- - - - - - - - - - ranking = 22.892387651924keywords = ophthalmoplegia (Clic here for more details about this article) |
6/59. arachnoid cysts involving a portion of the intraorbital optic nerve.Two patients were seen. One had chronic monocular choked disc, visual loss, and optociliary veins; the other had optic atrophy and a left-sided frontotemporal porencephalic cyst. Both patients were found on pathologic examination to have arachnoid cysts involving a localized segment of the intraorbital optic nerve.- - - - - - - - - - ranking = 5.6951163336576keywords = ocular (Clic here for more details about this article) |
7/59. Profound skeletal muscle depletion of alpha-dystroglycan in walker-warburg syndrome.walker-warburg syndrome (WWS) is an autosomal recessive disorder characterized by the combined involvement of the central nervous and skeletal muscle systems. Although the molecular basis of WWS remains unknown, defects in the muscle fibre basal lamina are characteristic of other forms of congenital muscular dystrophy (CMD). In agreement with this, some forms of CMD, due to glycosyltransferase defects, display a reduction in the immunolabelling of alpha-dystroglycan, whilst beta-dystroglycan labelling appears normal. Here we describe an almost complete absence of alpha-dystroglycan using both immunohistochemistry and immunoblotting in two patients with WWS. In addition, there was a mild reduction of laminin-alpha 2. In contrast, immunohistochemical labelling of perlecan and collagen VI was normal. Linkage analysis excluded the recently identified POMT1 locus, responsible for a proportion of WWS cases. These results confirm that WWS is a genetically heterogeneous condition and suggest that disruption of the alpha-dystroglycan/laminin-alpha 2 axis in the basal lamina may play a role in the degeneration of muscle fibres in WWS-also in cases not due to POMT1 defects.- - - - - - - - - - ranking = 128.08833107253keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
8/59. Oculomotor and vestibular anomalies in pelizaeus-merzbacher disease: a study on a kindred with 2 affected and 3 normal males, 3 obligate and 8 possible carriers.Two males suffering from pelizaeus-merzbacher disease were examined, one at the age of 1 year 4 months and at the age of 7 years, and the other at the age of 7 years 8 months. The former had spontaneous vertical pendular nystagmus. He also showed horizontal "micronystagmus", present only at the age of 1 year, which might be similar to "voluntary nystagmus". Both males had jerky bilateral gaze-evoked nystagmus, defective smooth pursuit and optokinetic responses and a hyporeactive vestibulo-ocular reflex (VOR). All three obligate carriers exhibited typical VOR disinhibition in the two horizontal nystagmus directions, which may be a distinctive feature. This feature was also found in one of the 7 possible carriers examined and was not observed in the 3 non-affected males, who had normal oculomotor responses.- - - - - - - - - - ranking = 5.6951163336576keywords = ocular (Clic here for more details about this article) |
9/59. Clinicopathologic correlation and pathogenesis of ocular and central nervous system manifestations in Hallervorden-Spatz syndrome.We have correlated the clinical and histopathologic features of the eyes and central nervous system in a patient with Hallervorden-Spatz syndrome who died at age 11 years. The main ocular findings included degeneration of photoreceptors, marked thinning of the outer nuclear and outer plexiform layers, retinal gliosis, narrowing and obliteration of blood vessels with a perivascular cuffing of pigment cells, and degenerative changes in the retinal pigment epithelial cells with accumulation of melanolipofuscin. The positive findings in the brain included a symmetrical, partially destructive lesion of the globus pallidus, especially in its internal fibers and neurons; in addition, we noted gliosis, widely disseminated axonal spheroidal bodies, which were most numerous in the globus pallidus and pars reticulata, as well as deposits of iron. Our histopathologic findings implicate three possible mechanisms, namely, lipid peroxidation, a deficiency of fatty acid membrane components, and increased cGMP which, either singly or in combination, are responsible for a pathogenesis that is common to the eye and brain in Hallervorden-Spatz syndrome.- - - - - - - - - - ranking = 28.475581668288keywords = ocular (Clic here for more details about this article) |
10/59. trigeminal neuralgia in a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal-recessive disease associated with multiple deletions of mitochondrial dna in skeletal muscle. MNGIE is a multisystem syndrome affecting muscle, peripheral, and central nervous systems and the gastrointestinal tract. A 25-year-old man is presented with 3 years history of right sided trigeminal neuralgia. He has been diagnosed as MNGIE based on clinical, neurophysiological and pathological findings. He had also received medical therapy and two radiofrequency thermocoagulations for the treatment of trigeminal neuralgia. Gamma Knife radiosurgery was performed and resulted in partial relief. To our knowledge, this is the first case in the literature of MNGIE with trigeminal neuralgia. An analogy is suggested between multiple sclerosis and MNGIE as a cause for trigeminal neuralgia in this patient.- - - - - - - - - - ranking = 5keywords = myopathy (Clic here for more details about this article) |
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