Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hydrocephalus associated with aqueductal stenosis is not uncommon after the 2nd year of life. In some patients, stenosis is due to slow-growing periaqueductal tumors that can only be revealed by magnetic resonance examination. We reviewed 31 cases of children with aqueductal stenosis and hydrocephalus diagnosed after the second year of life, and operated on in the Section of Paediatric Neurosurgery of UCSC between 1982 and 1993. Eighteen cases (Group I) had nonneoplastic aqueductal stenosis, while in 13 cases (Group II) it was demonstrated a periaqueductal tumor by NMR. Intracranial hypertension was the most frequent symptom at diagnosis in both groups. In Group I mental and growth retardation were frequent, while cerebellar signs were quite common in Group II. The treatment of choice for hydrocephalus was a V-P shunt. Tumors in Group II were not directly treated, because of their benign behaviour. Subdural hematoma was a relatively common shunt complication in these patients. In 2 cases we observed an atypic complication: patients developed an altered level of consciousness, upsight paresis and distony, without any sign of increased intracranial pressure, or cerebro-spinal fluid infection. One of these patients died; we treated the second patient with L-Dopa (Sinemet 150 mg/die); he progressively improved and had a complete remission of symptoms. Surgical mortality was nil; long-term mortality was 12.5%. In 76.1% of Group II patients we have not observed any tumor growth; 50% of Group I patients has still a complete remission of preoperative symptoms (follow-up 2-12 years).
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PMID:[Late clinical manifestations of hydrocephalus associated with aqueductal stenosis]. 890 May 60

In this study, a brother and sister of German origin are described with a possible diagnosis of van Buchem disease, a rare autosomal recessive sclerosing bone dysplasia characterized by a generalized hyperostosis of the skeleton mainly affecting the cranial bones. Clinically, patients suffer from cranial nerve entrapment potentially resulting in facial paresis, hearing disturbances, and visual loss. The radiological picture of van Buchem disease closely resembles sclerosteosis, although in the latter patients, syndactyly, tall stature, and raised intracranial pressure are frequently observed, allowing a differential diagnosis with van Buchem disease. Previous molecular studies demonstrated homozygous loss-of-function mutations in the SOST gene in sclerosteosis patients while a chromosomal rearrangement creating a 52-kb deletion downstream of this gene was found in Dutch patients with van Buchem disease. This deletion most likely suppresses SOST expression. Sclerostin, the SOST gene product, has been shown to play a role in bone metabolism. The two siblings reported here were evaluated at the molecular level by carrying out a mutation analysis of the SOST gene. This resulted in the identification of a novel putative disease-causing splice site mutation (IVS1 + 1 G-->C) homozygously present in both siblings.
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PMID:A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. 1586 24

Wenzel Leopold Gruber and Primo Dorello were great anatomists and researchers during the 19th and 20th centuries. Their contributions to neuroanatomy-namely the Gruber's (petrosphenoidal) ligament and Dorello's canal, respectively-have come to be important structures in various approaches through the middle fossa. These structures have also helped provide us with an understanding of the mechanism of sixth nerve paresis in various pathological conditions, such as raised intracranial pressure and Gradenigo syndrome. Their numerous publications have stood as a reference to anatomical researchers. Gruber's description of internal mesogastric hernia and the Meckel-Gruber anastomosis are also widely known in medical literature. The following article is an attempt to reflect upon the life and works of Gruber and Dorello and the importance of their research.
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PMID:Dorello's Canal and Gruber's Ligament: Historical Perspective. 2429 62

Ventriculoperitoneal (VP) shunt surgery is probably the commonest surgical procedure in neurosurgery. Belying its technical simplicity is the myriad complications associated with it. Shunt malfunction is a common complication associated with this surgery, second only to shunt related infections, which may be associated with it. Sterile cerebrospinal fluid (CSF) eosinophilia (CE) has been reported with VP shunts, which may or may not be related to the dysfunction. Eosinophilia in the CSF has also been associated with a number of other conditions including parasitic infestations in the brain. This may be unrelated to the shunt surgery. We present a case of a child, operated earlier for hydrocephalus, who presented with sub-acute loss of vision and bilateral oculomotor paresis. CSF from a chamber tap revealed eosinophilia. The commonest presenting symptom of shunt malfunction is raised intracranial pressure. There are no reports in the literature of VP shunt malfunction presenting with bilateral oculomotor paresis and decreased visual acuity. The associated CE complicated the clinical picture, especially since the initial brain radiology was normal. We discuss the clinical differential diagnosis of this very interesting presentation, management dilemmas and outcome in this child. This rare clinical presentation was found to be the result of a shunt malfunction and not due to any rare parasitic infestation of the brain. Occam's razor dictates that the simplest explanation in a given situation is usually the most accurate, as is seen in this case.
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PMID:Occam's razor in the management of ventriculoperitoneal shunt dysfunction: Diagnosis and management of an unusual pediatric case. 2597 62