Cases reported "Atrophy"

Filter by keywords:



Filtering documents. Please wait...

1/60. 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 = 1
keywords = enzyme
(Clic here for more details about this article)

2/60. Deficient platelet-activating factor and related enzymes in hemimegalencephaly.

    Platelet-activating factor (PAF) may influence neuronal migration, and gyral anomaly in hemimegalencephaly is believed to result from a neuronal disorder. A 7-month-old girl with hemimegalencephaly presented with intractable seizures, for which graded hemispherectomy was performed. In the resected specimen, we could not detect PAF, and related enzyme activities were low. These results suggest a role of PAF in neuronal migration.
- - - - - - - - - -
ranking = 5
keywords = enzyme
(Clic here for more details about this article)

3/60. Licorice-induced hypokalemic myopathy and hypokalemic renal tubular damage in anorexia nervosa.

    A patient with a history of anorexia nervosa developed licorice-induced hypokalemic myopathy. With potassium replacement, high CPK blood level and myopathic signs returned to normal. However, the patient manifested persistent hypokalemia and impaired renal function to concentrate and acidify the urine. Renal biopsy demonstrated intense degeneration and vacuolation of tubules with a normal glomerus which was consistent with hypokalemic nephropathy. Prolonged hypokalemia in anorexia nervosa is sometimes attributed to surreptitious purging or taking diuretics, but it is necessary to check the urine pH, the urine-specific gravity, and the urine potassium level in order to find underlying renal damage even after hypokalemic myopathy is treated successfully.
- - - - - - - - - -
ranking = 1.0072475467093
keywords = replacement
(Clic here for more details about this article)

4/60. A lesson in the management of testicular cancer in a patient with a solitary testis.

    Five per cent of patients with germ cell tumours of the testis will develop a further tumour in the contralateral testis. Standard treatment in such cases is a second orchidectomy, resulting in infertility, hormone replacement, and psychological morbidity. In this case report we explore the role of testis conservation in these patients and also show that there is a risk of removing a potentially normal testis if a histological diagnosis is not sought prior to orchidectomy.
- - - - - - - - - -
ranking = 1.0072475467093
keywords = replacement
(Clic here for more details about this article)

5/60. Frontal-executive dysfunction in early onset cerebellar ataxia of Holmes' type.

    We report the case of a 29-year-old male patient with cerebellar ataxia of Holmes' type. The combination of progressive cerebellar ataxia and hypogonadotrophic hypogonadism is a rare distinctive syndrome which was first described by Holmes in 1907. early diagnosis is desirable because replacement of testosterone may allow normal sexual development. MRI showed severe combined superior vermian and cerebellar hemisphere atrophy. Comprehensive neuropsychological testing pointed to a more widespread cerebellar mediated functional CNS involvement in the earlier stages of this ataxic syndrome than previously described in mentally not retarded subjects.
- - - - - - - - - -
ranking = 1.0072475467093
keywords = replacement
(Clic here for more details about this article)

6/60. Perinatal renal ischemia resulting in hypertensive cardiomyopathy.

    Three neonates presented with malignant hypertension during the first week of life; 2 of them had congestive heart failure. Although none had indwelling umbilical artery catheters, unilateral renovascular lesions were diagnosed by nuclear perfusion scans. Angiotensin-converting enzyme inhibitor therapy produced rapid recovery. hypertension must be included in the differential diagnosis of infants presenting with congestive heart failure and acidosis. ultrasonography is not sensitive enough to exclude renovascular lesions. We emphasize the importance of early diagnosis and treatment.
- - - - - - - - - -
ranking = 1
keywords = enzyme
(Clic here for more details about this article)

7/60. Neurological features in Gaucher's disease during enzyme replacement therapy.

    This report describes two patients with Gaucher's disease who had unusual clinical symptoms during enzyme replacement therapy. One patient was a female with type 3 Gaucher's disease. She developed a pericardial effusion at 7 y of age, which contained many Gaucher cells despite enzyme replacement therapy. She died from neurological deterioration during enzyme replacement therapy, despite an improvement in her visceral manifestations. The other patient is a male with type 2 Gaucher's disease, who has achieved long-term survival after being supported by mechanical ventilation and enzyme replacement therapy. While on enzyme replacement therapy at the age of 4 y, he suffered a generalized cutaneous disease which was clinically diagnosed as ichthyosis. Conclusion: These cases suggest that ordinary enzyme replacement therapy is insufficient for some of the non-neurological manifestations of severe types of Gaucher's disease.
- - - - - - - - - -
ranking = 16727.627267852
keywords = enzyme replacement therapy, enzyme replacement, replacement therapy, replacement, enzyme
(Clic here for more details about this article)

8/60. carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy.

    carbamyl phosphate synthetase I is a urea cycle enzyme. Severe deficiency of carbamyl phosphate synthetase I presents in the neonatal period as hyperammonemic encephalopathy with altered consciousness and occasional seizures after feeding begins. Episodes of altered consciousness with or without seizures and focal neurologic deficits are seen later with patients of partial carbamyl phosphate synthetase I deficiency. Fatal cerebral edema with brain herniation may develop on occasion. Three patients presenting with carbamyl phosphate synthetase I deficiency are reported with neuroimaging and pathologic findings illustrating the destructive encephalopathy with acute cerebral edema, followed by diffuse cerebral atrophy and occasional cystic encephalomalacia. The deterioration in carbamyl phosphate synthetase I deficiency occurs during the hyperammonemic crises. This deficiency may be difficult to treat despite the current advances in treatment strategies, especially in neonatal-onset patients with low carbamyl phosphate synthetase I activity.
- - - - - - - - - -
ranking = 1
keywords = enzyme
(Clic here for more details about this article)

9/60. Respiratory chain deficiency in Alpers syndrome.

    Alpers syndrome is a progressive encephalopathy of early onset, characterized by rapid and severe developmental delay, intractable seizures and liver involvement in a previously healthy child. Here, we report on respiratory chain enzyme deficiency in the liver of four unrelated children presenting with epileptic encephalopathy and liver involvement diagnosed as Alpers syndrome. Interestingly, oxidative phosphorylation in skeletal muscle was normal in 4/4 and blood and CSF lactate in 3/4 patients. liver involvement had a late clinical onset in patients with previously isolated epileptic encephalopathy. Based on these observations, we suggest 1. to give consideration to respiratory chain deficiency in the diagnosis of severe epileptic encephalopathy in childhood, even when no clinical or biological evidence of liver involvement or lactic acidosis is noted, and 2. to investigate the respiratory chain in a needle biopsy of the liver in children with epileptic encephalopathy prior to valproate administration if biochemical indications for respiratory chain disease or hepatic disturbance are noted, as this drug is believed to occasionally trigger hepatic failure and fatal outcome.
- - - - - - - - - -
ranking = 1
keywords = enzyme
(Clic here for more details about this article)

10/60. Slowly progressive dementia and multiple cerebral cortical infarctions following mitral valve replacement.

    We describe the clinicopathological findings of a woman, 83 years of age at the time of death, who demonstrated dementia and numerous cerebral infarctions. She had a history of repeated mitral valve replacements 15 and 13 years prior to death and showed a dull responsive state 1 month after the second operation. Thereafter, dementia manifested and slowly progressed. brain computed tomography revealed cortical atrophy and ventricular dilatation. Histological examination revealed a large number of minute foci of infarction in the cerebral cortex. Such lesions may have developed in association with the valve replacement and resulted in progressive dementia.
- - - - - - - - - -
ranking = 6.0434852802557
keywords = replacement
(Clic here for more details about this article)
| Next ->


Leave a message about 'Atrophy'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.