Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Central Nervous System (CNS) involvement during the course of Brucella infection is a rare clinical condition. In this article, a patient with a progressive paraparesis syndrome with spasticity, who was treated by medical methods and surgical intervention is analysed. This patient suffered from spinal cord compression in the thoracal region caused by a Brucella granuloma. The patient had no evidence of systemic Brucella infection.
Infection
PMID:Spinal cord compression due to Brucella granuloma. 259 52

The authors report the ninth case of progressive familial encephalopathy in infancy, with calcification of the basal ganglia and chronic cerebrospinal fluid (CSF) lymphocytosis, as recently described by Aicardi and Goutieres. The encephalopathy appears during the first year of life with bilateral spasticity, continuing microcephaly, abnormal eye movements, and a rapid course toward a behavioral vegetative state. In every case, there is a mild lymphocytosis in the CSF and brain atrophy with calcification of the lenticular nuclei. No evidence of an infectious disease has been discovered. This syndrome constitutes a distinct type of leukodystrophy, transmitted as an autosomal recessive trait. Our case is a reminder that the presence of CSF lymphocytosis in infants, with encephalopathy and calcification of the lenticular nuclei, may be due to genetic degenerative encephalopathy.
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PMID:A case of progressive familial encephalopathy in infancy with calcification of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. 373 Nov 64

A 16-year-old Hispanic boy born of consanguineous parents is described as having a history of cataracts, progressive lower-extremity spasticity and atrophy starting at 4 years of age, atretic ear canals with hearing dysfunction and diffuse patchy cutaneous hypopigmented areas. Clinical examination showed the typical signs of spastic paraplegia with increased tone, hyperreflexia, muscle atrophy and contractures. Sensation, autonomic and cerebellar functions were not disturbed. Neuroimaging studies were normal. Laboratory findings did not support a diagnosis of metabolic disturbance or infectious disease. This is considered a new form of complicated hereditary spastic paraplegia (HSP), transmitted presumably in an autosomal recessive pattern.
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PMID:A new form of complicated hereditary spastic paraplegia with cataracts, atretic ear canals and hypopigmentation. 963 10

Neonatal tetanus (NT) still causes significant mortality in developing countries, although in 1989 WHO adopted the goal of eliminating the disease by 1995-2000. To characterize the regional characteristics, clinical charts of 55 neonates (42 males and 13 females) admitted to the Pediatric Infectious Diseases Ward of Dicle University Hospital, Diyarbakir, Turkey with the diagnosis of NT from 1991 to 1997 were reviewed. Mean age at admittance was 8.9+/-4.3 days with a range of 3-25 days. Mean period for the appearance of first symptoms was 5.8 days ranging between 1 and 21 days. Mean birth weight of the patients was 3369+/-560g. All patients were from rural areas and were delivered at home by untrained traditional birth attendants with no prior antenatal healthcare services. Razor blade (55%), scissors (27%), and knife (18%) were the instruments used to cut the cord in non-hygienic conditions. No mothers had prior vaccination with tetanus toxoid during their pregnancy. Spasticity (76%), lack of sucking (71%), trismus (60%), fever (49%), omphalitis (44%), irritability (24%), risus sardonicus (22%), and opithotonus (15%) were the most common presenting signs and symptoms. Age at admission < 7.5 days and symptoms of onset <4.9 days, risus sardonicus and opisthotonus were associated with fatal outcome. All patients were treated with human tetanus immunglobulin or equine tetanus antitoxin where available, antibiotic therapy by penicillin G (100.000 U/kg/day) and intravenous high dose diazepam (40 mg/kg/day). Overall mortality rate was 40% (22 cases), without any equipment for mechanical ventilation. Health education of mothers and birth attendants, promotion of hospital delivery and prenatal tetanus immunization of all pregnant women particularly in rural areas are recommended, if NT is to be prevented.
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PMID:Neonatal tetanus: a continuing challenge in the southeast of Turkey: risk factors, clinical features and prognostic factors. 1020 47

Hermann from Reichenau--Hermannus contractus--apparently suffered from a disease which led to considerable physical handicap leaving his outstanding intellectual talents undamaged. Various statements about his condition--an epileptic, suffering from spasticity, afflicted by poliomyelits--have never been reconsidered. Using the biography written by this disciple Berthold, the most important contemporary source about Hermanns' life, an approach to a correct diagnosis from a neurologists point of view was the aim of this study. By unbiased analysis of the symptoms described by Berthold a neurologic syndrome is worked out: it comprised a flaccid tetraparesis involving the bulbar area. The sensory as well as the autonomic nervous system were apparently not involved. Intellectual functions were unaffected. Considering this syndrome and other details of Hermanns' life as well as the beginning and course of his illness, a traumatic birth injury, an early childhood disease and a central nervous as well as an infectious disease are ruled out. Muscle disease is considered possible, but motor neuron disease--either amyotrophic lateral sclerosis or spinal muscular atrophy--seems to be the most convincing diagnosis.
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PMID:[Thoughts on the illness of Hermann von Reichenau (1019-1054)]. 1070 10

Intracranial calcification and microcephaly, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition named pseudo-TORCH syndrome. This emerging entity has been registered in eight families so far. We report on five patients from three unrelated Italian families affected by pseudo-TORCH syndrome. Reevaluation of literature allowed us to draw a specific clinical profile of the syndrome. Indeed, congenital microcephaly, congenital cerebral calcification, spasticity and seizures are the main clinical features, and have been present in almost all patients reported so far. On the contrary, findings resembling congenital infectious diseases including neonatal icterus, hyperbilirubinemia, thrombocytopenia, and hepatomegaly, affect less than half of the patients. Considering the diagnosis of pseudo-TORCH syndrome in patients with neonatal microcephaly and cerebral calcification is necessary since an early diagnosis may allow adequate genetic counseling to the families.
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PMID:Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria. 1122 24

We report the occurrence of symmetrical thalamic calcifications (STC) in one of a pair of monozygotic twins born at term without evidence of pre- or peri-natal asphyxia. STC is known to be an extremely rare condition in infants. Judging from the few cases reported in the literature, the clinical presentation is very severe: low Apgar score, no spontaneous movements, spasticity or marked hypotonia, impaired suck and swallow, facial diplegia. The prognosis is also very poor. The etiology is still a matter of debate: genetic, infectious, toxic or hypoxic-ischemic insults have been hypothesized. In our case, the presence of the lesion in one of a pair of monozygotic twins would rule out any genetic origin, nor was there any evidence of toxic or infectious disease. The only potential risk factor for fetal damage was hypoxic-ischemic insult related to the twin pregnancy.
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PMID:Symmetrical thalamic calcifications in a monozygotic twin: case report and literature review. 1562 45

Cannabis sativa L. is possibly one of the oldest plants cultivated by man, but has remained a source of controversy throughout its history. Whether pariah or panacea, this most versatile botanical has provided a mirror to medicine and has pointed the way in the last two decades toward a host of medical challenges from analgesia to weight loss through the discovery of its myriad biochemical attributes and the endocannabinoid system wherein many of its components operate. This study surveys the history of cannabis, its genetics and preparations. A review of cannabis usage in Ancient Egypt will serve as an archetype, while examining first mentions from various Old World cultures and their pertinence for contemporary scientific investigation. Cannabis historians of the past have provided promising clues to potential treatments for a wide array of currently puzzling medical syndromes including chronic pain, spasticity, cancer, seizure disorders, nausea, anorexia, and infectious disease that remain challenges for 21st century medicine. Information gleaned from the history of cannabis administration in its various forms may provide useful points of departure for research into novel delivery techniques and standardization of cannabis-based medicines that will allow their prescription for treatment of these intractable medical conditions.
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PMID:History of cannabis and its preparations in saga, science, and sobriquet. 1771 11