1/172. Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: a new genetic disorder?A child of first-cousin Puerto Rican parents had global developmental delay, failure to thrive, and hypotonia since early infancy. At 1 1/2 years of age, she developed clinical and electrophysiologic evidence of progressive motor and sensory neuropathy. At 2 1/2 years, she developed visual impairment and optic atrophy followed by gradual involvement of the 7th, 9th, 10th, and 12th cranial nerves. Uncontrollable myoclonic seizures began at 4 years and she died at 6 years of age. Motor nerve conduction velocities were initially normal and later became markedly slowed. Sensory distal latency responses were absent. Lysosomal enzyme activities in leukocytes and fibroblasts were normal. sural nerve and two muscle biopsies showed only nondiagnostic abnormalities. Electron microscopy of lymphocytes, skin, and fibroblasts showed cytoplasmic inclusions. light microscopy of frontal cortex biopsy showed neuronal storage material staining positively with Luxol fast blue, and electron microscopy showed cytoplasmic membranous bodies in neurons, suggesting an accumulation of a ganglioside. At autopsy, all organs were small but otherwise normal and without abnormal storage cells in the liver, spleen, or bone marrow. Anterior spinal nerve roots showed loss of large myelinated axons. The brain was small and atrophic; cortical neurons showed widespread accumulation of storage material, most marked in the pyramidal cell layer of the hippocampus. Subcortical white matter was gliotic with loss of axons and myelin sheaths. In cortical gray matter there was a 35% elevation of total gangliosides, with a 16-fold increase in GM3, a three- to four-fold increase in GM2 gangliosides, and a 15-fold elevation of lactosyl ceramide. GM3 sialidase activity was normal in gray matter at 3.1 nmols/mg protein per hour and lactosyl ceraminidase I and II activities were 70% to 80% of normal. In white matter, total myelin was reduced by 50% but its composition was normal. Phospholipid distribution and sphingomyelin content were normal in gray matter, white matter, and in the liver. These biochemical findings were interpreted as nonspecific abnormalities. The nature of the neuronal storage substance remains to be determined.- - - - - - - - - - ranking = 1keywords = optic (Clic here for more details about this article) |
2/172. University of Miami Division of Clinical pharmacology Therapeutic Rounds: ischemic renal disease.Ischemic renal disease (IRD) is defined as a significant reduction in glomerular filtration rate and/or loss of renal parenchyma caused by hemodynamically significant renal artery stenosis. IRD is a common and often overlooked clinical entity that presents in the setting of extrarenal arteriosclerotic vascular disease in older individuals with azotemia. IRD is an important cause of chronic renal failure and end-stage renal disease (ESRD), and many patients with a presumed diagnosis of hypertensive nephrosclerosis may actually have undiagnosed ischemic nephropathy as the cause of their ESRD. The primary reason for establishing the diagnosis of IRD is the hope that correction of a renal artery stenosis will lead to improvement of renal function or a delay in progression to ESRD. There are six typical clinical settings in which the clinician could suspect IRD: acute renal failure caused by the treatment of hypertension, especially with angiotensin-converting enzyme inhibitors; progressive azotemia in a patient with known renovascular hypertension; acute pulmonary edema superimposed on poorly controlled hypertension and renal failure; progressive azotemia in an elderly patient with refractory or severe hypertension; progressive azotemia in an elderly patient with evidence of atherosclerotic disease; and unexplained progressive azotemia in an elderly patient. It is important for the clinician to identify IRD, because IRD represents a potentially reversible cause of chronic renal failure in a hypertensive patient.- - - - - - - - - - ranking = 0.046782217363753keywords = edema (Clic here for more details about this article) |
3/172. Study of the cell biology and biochemistry of cherubism.AIMS: To establish whether the multinucleate cells in lesions of patients with cherubism are also osteoclasts and if this is the case whether they were responsive to calcitonin; to carry out cytogenetic studies on two members of the same family affected by cherubism in an attempt to identify any major chromosomal defects; and to perform an in-depth modern biochemical study of four children in the same family. SUBJECTS AND methods: Four related children with cherubism were studied. Tissue taken from one of the children at elective decompression of an optic nerve was submitted to in vitro bone resorption studies. Cytogenetic studies were done on two of the children and biochemical studies on all four. RESULTS: The multinucleate cells in the cherubic lesions were shown to be osteoclasts since they synthesised tartrate resistant acid phosphatase, expressed the vitronectin receptor, and resorbed bone. bone resorption by the cultured multinucleate cells was significantly inhibited by calcitonin. High resolution cytogenetic studies failed to detect any chromosomal abnormalities in two children with cherubism. The biochemistry profile of all four children with cherubism showed that serum calcium, parathyroid hormone, parathyroid related hormone, calcitonin, and alkaline phosphatase were within normal levels. urine analysis of pyridinium and deoxypyridinium cross links, hydroxyproline, and calcium in relation to urine creatinine were measured to assess bone resorption in these children, and the values were at the upper end of the normal range in all four. CONCLUSIONS: Further studies are required to determine whether calcitonin treatment will control this grossly deforming disease until the time when the physiological changes that occur at puberty rectify the pathology. It is not recommended that biochemical markers of bone resorption are used in isolation to monitor the activity of cherubism in individuals because the results are based on a small number of children and because of reports of marked interindividual variation in the levels of these markers, particularly in children.- - - - - - - - - - ranking = 1keywords = optic (Clic here for more details about this article) |
4/172. blindness from bad bones.Progressive visual loss is the most common neurologic finding in osteopetrosis. Several mechanisms may explain this phenomenon, including compression of the optic nerves caused by bony overgrowth of the optic canals and retinal degeneration. We report a child with osteopetrosis and progressive visual loss, even though patent optic canals were demonstrated by computed tomography and digital holography. This patient's visual loss was caused by increased intracranial pressure secondary, to obstruction of cerebral venous outflow at the jugular foramen. This case points to the importance of a full evaluation of the skull base foramina in the diagnostic workup of visual loss in patients with osteopetrosis.- - - - - - - - - - ranking = 3keywords = optic (Clic here for more details about this article) |
5/172. Rapid enlargement and recurrence of a preexisting intrasellar craniopharyngioma during the course of two pregnancies. Case report.Enlargement of preexisting pituitary adenomas during pregnancy is well documented, but this phenomenon is unusual for nonendocrine pituitary tumors such as craniopharyngiomas. Only six cases of craniopharyngioma have been reported as presenting during pregnancy. The authors describe a 19-year-old woman who presented with amenorrhea and galactorrhea caused by an intrasellar mass. Seven months later, when she was 20 weeks pregnant, the patient developed sudden visual dysfunction. Emergency transsphenoidal surgery was performed to restore visual function, and the tumor was found to be a craniopharyngioma. The patient had spontaneous labor and delivered a healthy infant at term. The tumor recurred 4 years later, during her second pregnancy, and was again entirely removed via a second transsphenoidal approach. She again had a normal term delivery. During the 5-year follow-up period she has demonstrated no endocrinological or visual dysfunction. Control magnetic resonance images have revealed no recurrence of the tumor. The transsphenoidal approach seems to be the safest procedure to use during pregnancy to achieve an immediate optic nerve decompression and to preserve pituitary function.- - - - - - - - - - ranking = 1keywords = optic (Clic here for more details about this article) |
6/172. Tracheal intubation in a child with trismus pseudocamptodactyly (Hecht) syndrome.Tracheal intubation of a child with trismus pseudocamptodactyly (Hecht) syndrome is described. This disorder is characterized by progressive trismus and the need for repeated surgeries. Children intubated orally on a prior occasion may require an alternative approach subsequently due to progressive inability to open the mouth. An antegrade fiberoptic-guided nasotracheal technique initially was chosen due to extremely limited mouth opening. After this approach was unsuccessful, a retrograde guidewire-assisted fiberoptic intubation was performed. The manifestations of Hecht syndrome, as well as both techniques for tracheal intubation employed, are reviewed.- - - - - - - - - - ranking = 2keywords = optic (Clic here for more details about this article) |
7/172. Protracted course of Krabbe disease in an adult patient bearing a novel mutation.BACKGROUND: Krabbe disease, or globoid cell leukodystrophy, is an autosomal recessive disorder caused by the deficiency of galactocerebrosidase (GALC) activity. Although most cases are diagnosed in infancy and show a fatal outcome in childhood, adult patients have been identified, showing progressive spastic hemiparesis to tetraparesis, followed by optic atrophy, dementia, and neuropathy. The disease can be diagnosed by detecting the deficiency of GALC activity (less than 5% of normal) in any available tissue sample. The cloning of the human GALC gene allowed the molecular characterization of newly diagnosed patients. More than 75 disease-causing mutations and polymorphisms in this gene have been identified. OBJECTIVE: To describe a 28-year-old woman with Krabbe disease, correlating clinical and biochemical abnormalities to a novel mutation on the GALC gene. methods: Clinical investigation was enriched by neurophysiological and neuroimaging data. The activity of GALC was assayed in white blood cells using radiolabeled natural substrate. Genomic dna was isolated from peripheral blood, and the GALC gene was sequenced. The mutated gene was expressed and GALC activity was measured in transfected COS-1 cells. RESULTS: The patient had progressive and bilateral amaurosis starting at 8 years of age. Although she was experiencing weakness in all her extremities, her intellect remained intact. She was found to be homozygous for a previously unreported missense mutation (T1886G), which leads to low, but not totally deficient, GALC activity. CONCLUSIONS: Expression of this mutation in COS-1 cells using the pcDNA3 expression vector (Invitrogen, Carlsbad, Calif) resulted in low, although not null, GALC activity, which can explain the protracted clinical course in this patient. patients carrying the mutation described herein might be potential candidates for therapeutic trials, such as bone marrow transplantation or gene therapy.- - - - - - - - - - ranking = 1keywords = optic (Clic here for more details about this article) |
8/172. Juvenile onset primary open-angle glaucoma: three case studies and review.BACKGROUND: Common clinical characteristics of juvenile onset primary open-angle glaucoma (JPOAG) include increased intraocular pressure, optic nervehead damage, visual-field loss, and a normal-appearing iridocorneal angle by gonioscopy. Histologic analysis of the angle structures may show varying developmental abnormalities that are observed to be less obvious as age of onset increases. Individuals who are African-American, male in gender, and myopio, are at highest risk--particularly if a positive family history exists. A genetic locus for juvenile onset primary open-angle glaucoma has been isolated to the long arm of chromosome 1. case reports: Three separate cases of JPOAG diagnosed in a 16-year-old African-American girl, a 9-year-old African-American boy, and a 28-year-old African-American woman are presented and reviewed. The symptoms, clinical presentation, disease progression, and treatment options are discussed in detail. CONCLUSION: Early recognition of this disease is possible through screening on all patients--particularly those who exhibit increased cupping with increased intraocular pressures and risk factors, such as youthful age, male gender, myopic refractive error, and African-American heritage with a positive family history of glaucoma. family members should also be examined.- - - - - - - - - - ranking = 1keywords = optic (Clic here for more details about this article) |
9/172. Unilateral proptosis resulting from giant-cell arteritis.BACKGROUND: Giant-cell arteritis (GCA) is a systemic, inflammatory vasculopathy that affects small- to medium-sized arteries. Arterial wall inflammation results in reduction of blood flow and subsequent ischemia. Arteries of the head and neck are particularly susceptible, including the ophthalmic and posterior ciliary arteries. The eye care provider is in a position to assist with the ultimate diagnosis of GCA. CASE REPORT: A 79-year-old black man was referred to the eye clinic for evaluation of exophthalmos of the left eye. The patient reported increasing proptosis over the previous 6 months; a history of sudden, permanent vision loss of the affected eye (approximately 2 years earlier); and generalized malaise and chronic frontal headache. Examination did reveal an exophthalmic eye of approximately 8-mm difference by Hertel exophthalmometry. Fundus examination revealed optic nerve pallor O.S. CT scan revealed chronic inflammatory changes of orbital tissue, including the extraocular muscles. No compressive lesions were present. Laboratory testing indicated an elevated erythrocyte sedimentation rate. A tentative diagnosis of giant-cell arteritis was made, which was confirmed with temporal artery biopsy. CONCLUSIONS: patients with ocular complications secondary to GCA manifest several different ocular symptoms, including unilateral and bilateral intermittent blur, sudden complete vision loss, double vision, etc. This was an unusual case of GCA because the initially manifested ocular sign was unilateral proptosis. The patient probably had initial ocular complications of GCA 2 years previously, with sudden loss of vision in the left eye. The patient never sought medical attention at that time, and the unilateral exophthalmic eye resulted from chronic inflammatory orbital changes associated with GCA.- - - - - - - - - - ranking = 1keywords = optic (Clic here for more details about this article) |
10/172. Familial scapuloperoneal myopathy and mitochondrial dna defect.The authors present 13 members of 4 generations in a family with scapuloperoneal myopathy. The disease showed autosomal dominant inheritance. In all 6 patients examined, the disease began in the third decade (18-31 years). Initially the shoulder girdle was involved, and the process slowly spread to the distal part of the lower extremities in several years or decades. The facial and pelvic muscles were only moderately involved; ocular muscle involvement was absent. Myopathy was proved by electromyography and muscle biopsy. In 1 case, electrophysiological evidence of peripheral neuropathy was found, and in 3 other patients central nervous system involvement (dementia, epilepsy) and optic atrophy complicated the syndrome. In the youngest patient, a mutation could be found in the 'hot-spot region' of the muscle mitochondrial dna by polymerase chain reaction.- - - - - - - - - - ranking = 1keywords = optic (Clic here for more details about this article) |
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