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)

Sclerosteosis is one of the rare, potentially lethal, autosomal recessive, progressive, craniotubular sclerosing bone dysplasias. Syndactyly of the second and third or other fingers is evident at birth. Hyperostosis and sclerosis are most prominent in the skull and tubular bones, and are frequently associated with excessive height and weight. The typical facial deformity is apparent by the age of 5 years. The changes involving the temporal bone include a marked increase in overall dimensions, extreme sclerosis, and narrowing and constriction of the external ear canal, middle ear cleft, internal acoustic meatus, and falloppian canal. Impairment of hearing, as a rule bilateral, is a frequent presenting symptom which may manifest in early childhood. Initially it is an expression of interference with sound conduction; later it may become associated with a loss of sound perception. Impairment of facial nerve function is another salient feature which occasionally is present at birth. As a rule, it manifests initially as a unilateral, recurrent paresis, eventually progressing to a bilateral permanent partial loss of facial nerve function. Since impairments of hearing and facial nerve function are two of the salient features, present at birth or in early childhood, the responsibility for recognizing the disease often falls upon the otolaryngologist. The clinical and radiologic features permit not only early recognition of the disorder but also differentiation from similar bony dysplasias. Hyperosteosis and sclerosis of the skull lead to thickening and distortion of the calvaria, cranial base, and foramen magnum resulting in reduction of the intracranial volume, interference with the cerebral blood flow, resorption of cerebrospinal fluid, and gradual increase of intracranial pressure. Severe headaches resulting from this mechanism often develop in early adulthood, and several patients have died suddenly from impaction of the medulla oblongata in the foramen magnum. Decompression of the transverse sigmoid sinus and jugular bulb may be lifesaving, combined with a posterior, and if necessary, an anterior, craniectomy for decompression. Early decompression of the internal acoustic meatus and falloppian canal may help in the preservation of cochlear and facial nerve function.
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PMID:Sclerosteosis involving the temporal bone: clinical and radiologic aspects. 667 95

A 25-year-old male presented with off-and-on vertigo of 10-year duration. He had left-sided cerebellar signs, left vocal cord paresis, and minimal left-sided hearing impairment. Computed tomography of the head revealed significant hyperostosis of squamous occipital, mastoid, and petrous temporal bone with no adjacent soft tissue mass. On excision, it turned out to be paraganglioma. Paraganglioma as a pure bony mass is not reported in the literature. The site of origin of such a tumor could not be ascertained, even on generous screening. The tumor remained nonsecretory on clinical and biochemical investigations.
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PMID:Hyperostotic paraganglioma of occipitotemporal bone. 1288 55

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

Advanced form of diffuse idiopathic skeletal hyperostosis or Forestier's disease can induce dysphagia and significant airway symptoms such as hoarseness, snoring, dyspnoea on exertion and laryngeal stridor. We have discussed the diagnosis and management of an unusual case with respiratory distress due to left cricoarytenoid joint fixation and right vocal cord paresis in conjunction with skeletal pathology.
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PMID:Crico Arytenoid Joint Fixation in Diffuse Idiopathic Skeletal Hyperostosis (DISH): A Case Report. 2275 39

A six-year-old, spayed female Weimaraner dog was first presented with the complaint of hindlimb paresis and then hindlimb paralysis two years later after colliding with a tree. Radiographs and computed tomography revealed spinal fractures at lumbar vertebrae (L)2-3 and at L4-5. In addition, the spinal column was affected by new bone formation along the vertebral bodies, bridging the disc spaces, as seen in diffuse idiopathic skeletal hyperostosis (DISH). Open reduction and internal fixation was achieved with standard vertebral body plating. This is the first report of DISH-associated spinal fractures after minor trauma in a dog. Surgery resulted in return of the full function after the first, and in improvement of neurologic function after the second incident.
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PMID:Spinal fracture in a dog with diffuse idiopathic skeletal hyperostosis. 2315 8

An 8-year-old intact male Belgian Malinois, weighing 37.2 kg, was referred for evaluation due to right side facial paresis, ataxia and a 2-month history of decreased cognitive ability. Physical and neurological examinations revealed mild depression, left-sided head tilt, right-sided facial paresis and ataxia. A well-demarcated, broad-based cerebellar mass and hyperostosis were found on CT imaging of the brain. Based on these CT findings, a cerebellar meningioma was strongly suspected. Hydroxyurea and prednisolone were administered; after 4 weeks, there was reduction in mass size as compared to initial CT results. However, the mass size was found to have grown 6 weeks after hydroxyurea treatment. We then prescribed a combination of imatinib mesylate and hydroxyurea. Two weeks following combination treatment, the mass size had reduced significantly. The mass continuously decreased in size until the patient died during anesthesia. Cerebellar transitional meningioma was confirmed by histopathologic examination. To the author's knowledge, this is the first reported case of imatinib mesylate plus hydroxyurea therapy for the treatment of meningioma in veterinary medicine.
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PMID:Imatinib mesylate plus hydroxyurea chemotherapy for cerebellar meningioma in a Belgian Malinois dog. 2513 49