Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0264733 (ventricular dilatation)
 2,163 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Several clinical trials have demonstrated that cisplatin-based chemotherapy for primary intracranial germ-cell tumors is effective as a neoadjuvant chemotherapy. In this report, we describe a 6-year-old boy, Down syndrome and Hirschsprung's disease with intracranial pure yolk sac tumor treated by combined chemotherapy with cisplatin, vinblastine, bleomycin and cyclophosphamide (modified VAB-6 regimen). He had been admitted to our hospital because of intractable vomiting, and left facial nerve palsy since 1 month before. An MRI revealed an enlarged mass, 4cm in diameter, in the left cerebello-pontine angle with uniformal enhancement by Gd-DTPA, and bilateral ventricular dilatation. He was found to have increased serum alpha-fetoprotein level (AFP 11, 786ng/ml), but not human chorionic gonadotropin beta-subunit. After a partial resection of the tumor, diagnosed as pure yolk sac tumor, and ventriculo-peritoneal shunt, three courses of combined chemotherapy with cisplatin, bleomycin, vinblastine and cyclophosphamide (modified VAB-6 therapy) were carried out. The serum AFP level returned to normal, and the tumor mass entirely disappeared (a complete response) on MRI after the second course of chemotherapy. However, cisplatin-induced vomiting and mild neutropenia and renal tubular injury developed after the third course of chemotherapy. Irrespective of administration of recombinant human G-CSF and broad spectrum antibiotics, he suffered from pneumonia and died of septic shock and multiple organ failure. Autopsy showed microscopic residual tumors. The combination chemotherapy with cisplatin, bleomycin, vinblastine and cyclophosphamide is effective for initial treatment of childhood intracranial yolk sac tumor. It is necessary, however, to reevaluate the cisplatin dosage and treatment schedule in order to reduce such side effects as bone marrow suppression and renal damage.
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PMID:[A case report of a 6-year-old boy with intracranial yolk sac tumor treated by VAB-6 regimen]. 753 Dec 96

A 28-year-old male was admitted to our hospital with the complaints of numbness of the left upper limb and gait disturbance. Neurological examination disclosed slight left dysmetria, truncal ataxia and sensory disturbance at the dermatome of C8 and Th1. CT and MRI scans showed a large mass lesion in the left posterior fossa, ventricular dilatation, cavum septi pellucidi and cavum Vergae, empty sella, cervical syringomyelia and left tonsilar herniation. The tumor which attached to cerebellar tentorium was totally removed and a histological diagnosis of meningothelial meningioma was made. Postoperative MRI scan demonstrated a disappearing of syringomyelia with the improved tonsillar herniation. Association of syringomyelia with brain tumor is relatively rare, so its pathogenesis was discussed.
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PMID:[Syringomyelia associated with tentorial meningioma]. 754 27

Meningeal carcinomatosis is characterized by diffuse infiltration of the leptomeninges by metastatic cancer in patients usually with a previous history of malignancy. Primary tumors are adenocarcinomas of the breast or lung, or malignant melanoma. The clinical presentation is pleomorphic and commonly affects the cerebral hemispheres, the cranial nerves, or spinal cord and its roots. Diagnosis is confirmed by the presence of the malignant cells in the cerebrospinal fluid (CSF). Computed tomography (CT) and magnetic resonance (MRI) show abnormal findings including ventricular dilatation and small enhancing lesions along the CSF space. Despite radiotherapy and chemotherapy, vital prognosis remains bad and the treatment is useful in improving the quality of life. Three cases presented here emphasize once again the important fact that meningeal carcinomatosis remains a very difficult diagnosis; several lumbar punctures were sometimes necessary, and cerebral fluid studies cannot yet be replaced by other diagnostic techniques like contrast enhanced CT or MRI with gadolinium.
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PMID:[Carcinomatous meningitis. Presentation of 3 cases]. 761 59

We report the clinical and neuroradiological follow-up of 2 Italian sisters, 10 and 6 years of age, affected by congenital muscular dystrophy (CMD) with divergent CNS involvement. In both, CMD was diagnosed by finding dystrophic alterations in muscle biopsy and muscular deficit at birth. The elder sister suffered also from marked intellectual deficit and epilepsy, as usually reported in children with Fukuyama CMD. In the same patient, at 2 years of age, CT scan showed severe hypodensity of cerebral white matter and severe ventricular dilatation of occipital horns. At 8 years of age, MRI also showed clearcut pachygyria mainly in the parietal and occipital lobes. MRI and CT scan at the same age showed improvement of the leukoencephalopathy and unchanged ventricular dilatation, as reported for patients with Fukuyama CMD. Unlike Japanese cases, however, she showed no progression in her muscular deficit and her muscle immunostaining of laminin M chain (merosin) was normal. The younger sister had normal mental development, never experienced epileptic fits and had always normal EEG. However, as often seen in classical CMD, her CT scan showed moderate hypomyelination of cerebral white matter and mild dilatation of lateral ventricles. MRI did not show any other brain abnormalities. Sequential CT scan at 2, 4 and 6 years of age showed improvement of the leukoencephalopathy. Her muscular deficit had a stationary clinical course. Her immunostaining of muscle merosin was moderately reduced. The finding of Fukuyama-like and classical CMD in 2 sisters indicates the possibility that different forms of CMD may be different expressions of the same genetic disease.
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PMID:Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up. 767 85

Local cerebral blood flow was measured in 10 high-risk infants with neonatal episodic neurological events at 41-44 post-conceptional weeks using N-isopropyl-p-[123I]iodoamphetamine (IMP) and single photon emission computed tomography (SPECT). In 5 of the 7 infants with normal neurological outcome, prominent cerebral perfusion was found in the basal ganglia, brainstem, cerebellum, parietal white matter, and sensory motor cortex. The frontal lobes showed poor relative perfusion. In 3 infants with severe neurological deficits, SPECT demonstrated severe hypoperfusion of all parts of the brain except the basal ganglia, brainstem and sensorimotor cortex. However, MRI revealed non-specific changes, such as poor myelination and ventricular dilatation. SPECT, when performed in the first weeks of life, can be useful and may be more sensitive than MRI in predicting the occurrence of major neurological handicaps. However, because of the relatively invasive character and high cost of SPECT, SPECT should not necessarily be performed in all high-risk neonates.
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PMID:Assessment of local cerebral blood flow in neonates with N-isopropyl-P-[123I]iodoamphetamine and single photon emission computed tomography. 769 93

The clinical features and long-term outcome of seven patients with delayed cerebral radiation necrosis (DCRN) are described. Radiotherapy had been given for pituitary tumour (1), astrocytoma (2), pinealoma (2), craniopharyngioma (1) and parotid carcinoma (1). The mean latency to onset of the first neurological symptoms was 22 months (range 6-40 months), and mean duration of follow-up was 86 months (range 60-126). Three patients died at a mean of 84 months after radiotherapy (range 62-98). A fourth patient probably died from metastatic disease. Three patients remain alive, albeit severely disabled, after 5-10 years. The illness typically ran a stepwise course, with fits and stroke-like episodes occurring against a background of progressive dementia and somnolence. CT and MRI scans showed progressive ventricular dilatation associated with cerebral atrophy and diffuse or focal changes in the white matter. Four patients had had two or more neurosurgical procedures after the radiotherapy. In only one of the seven patients was the diagnosis made at presentation. DCRN produces a distinctive clinical picture, yet remains a poorly recognized complication of cranial irradiation.
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PMID:Delayed cerebral radiation necrosis. 815 88

We report a 64-year-old man with recurrent bouts of blurred vision who died after developing an abdominal mass. He was well until June of 1985 when he was 59-years-old when he had an acute onset of loss of vision in his right eye. He was treated by prednisolone with a complete remission. In August of 1986, he had another bout of blurring of vision in his left eye. Once he lost his left vision completely, from which he showed slow recovery. In January of 1987, he developed blurring of his right eye and loss of pain and touch sensation in his right leg. Since then he repeated loss of vision in his right or left eye five times, and he was admitted to our hospital in May of 1990. On admission, he was alert and oriented. General physical examination was unremarkable. Neurologic examination revealed bilateral optic nerve atrophy. He could not discriminate light or dark by either eye. Other cranial nerves were unremarkable. He could walk in a wide-base only with support; spasticity was noted in his left leg. Muscle strength was preserved. Deep reflexes were exaggerated in both legs with extensor plantar reflex bilaterally. Pain and touch sensation was decreased in the left leg by 30%, and vibration was diminished in both feet. Position sense was preserved. Routine blood counts and chemistries were unremarkable. Cranial MRI scans revealed multiple high-signal intensity lesions in both pontine bases, basal ganglia, thalami, and in the deep cerebral white matters. He was treated with oral prednisolone, plasmapheresis, lymphocytapheresis, and then immuran. His vision showed only slight recovery to discriminate light and dark. In October of 1990, slight weakness appeared in his both legs. In December of that year, he developed nausea, and a fiber colonoscopic study revealed a stenosis in the transverse colon. In March of 1991, he developed anemia and liver dysfunction. In July of that year, jaundice appeared, and his serum bilirubin was increased. In October, his leg weakness became more prominent, and his cranial CT scans at that time revealed a low density change in the right cerebellum in the right superior cerebellar artery territory; in addition, multiple low density spots were scattered to be seen in both cerebral hemispheres including the basal ganglia and thalamic areas with ventricular dilatation and cortical atrophy.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[A 64-year-old man with recurrent blurred vision and an abdominal mass]. 816 57

We describe here chronological single photon emission computed tomography (SPECT) with N-isopropyl-p-[123I]iodoamphetamine (123I-IMP) of a patient with subacute sclerosing panencephalitis (SSPE) from the early clinical stages. The case, an 8-year-old Japanese girl, was in clinical stage I of the disease on admission. A SPECT study with 99mTc-hexamethylprophyleamine oxime (99mTc-HM PAO) and 123I-IMP revealed hypoperfusion of cerebral blood flow in the bilateral occipital areas and a part of the cerebellum. Initially, no abnormal findings were observed on CT and MRI. Subsequently, however, MRI indicated abnormal signal intensity dominantly in the area of the occipital white matter where hypoperfusion of cerebral blood flow was found by the initial SPECT studies. This abnormal cerebral hypoperfusion appeared to improve after treatment with oral inosiplex and intrathecal interferon-alpha over 6 months of the clinical course. The abnormal signal intensity on the MRI also decreased, but simultaneous cranial CT demonstrated diffuse cortical atrophy and slight ventricular dilatation.
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PMID:Chronological SPECT studies of a patient with subacute sclerosing panencephalitis. 821 34

Hydrocephalus associated with spinal tumors is a well known but not common phenomenon. Over 80 such cases have been reported since 1931 by Kirieleis. Most of those cases present features of raised intracranial pressure, for instance papilledema. The histological diagnosis of the tumors is ependymoma (1/2), neurinoma (1/4) and malignant astrocytoma (1/4). On the other hand dementia as a symptom of spinal tumors has been reported only 13 times. In 11 of 13 cases presented with signs of NPH, mental status improved only by removal of the tumors without shunt operation. The histological diagnosis of the tumors is neurinoma (9 cases), ependymoma (2) and meningioma (2). Ours is the 14th case. A 59-year-old woman presented a 6 month history of memory disturbance, gait disturbance and urinary incontinence. CT scan showed ventricular dilatation. RI cisternography revealed a block at lumbar region. CSF obtained by lumbar puncture was deep yellow and turbid. CSF protein level was markedly elevated to 4073 mg/dl. MRI of the spinal cord demonstrated cauda equina mass. Total removal of the spinal tumor was performed. The histological diagnosis was neurinoma. Within 3 weeks the patient's symptoms had dramatically improved. The decrease in ventricular size was noted on CT 18 months after operation. We think one of the most important factors by which spinal tumors develop NPH is elevation of the CSF protein content. In our case, postoperative protein level decreased from 4073 to 274 mg/dl.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Neurinoma of the cauda equina associated with normal pressure hydrocephalus]. 821 13

A female neonate with pyruvate dehydrogenase (PDH) deficiency is presented with clinical, radiologic, biochemical, neuropathologic, and molecular genetic data. She was dysmorphic, with a high forehead, lowset ears, thin upper lip, upturned nose, and rhizomelic limbs. Cranial MRI revealed severe cortical atrophy, ventricular dilatation, and corpus callosum agenesis. Pyruvate and lactate levels were increased in CSF and blood. Urinary organic acid profile was compatible with PDH deficiency. PDH activity was normal in fibroblasts, lymphocytes, and muscle. The PDH E1-alpha gene was sequenced and a single base mutation was found within the regulatory phosphorylation site in exon 10. It is postulated that this mutation causes a cerebral form of PDH deficiency. Tissue-specific expression of the disease could be explained by differential X chromosome inactivation because the PDH E1-alpha gene is located on this chromosome. Dysmorphism with severe cerebral malformations in female patients merits a metabolic evaluation, including determination of lactate and pyruvate levels in CSF.
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PMID:Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis. 835 55


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