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contracture/seizures
Odkaz je uložen do schránky
Strana 1 z 104 Výsledek
Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.
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Přihlášení Registrace
Alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome; OMIM 203550) is a very rare genetic disorder with distinct features. To our knowledge, there have been four cases documented to date. In addition, another three patients, previously described as having IFAP syndrome (OMIM
Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy.
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Přihlášení Registrace
Limb-girdle muscular dystrophies (LGMDs) is a heterogeneous group of muscular dystrophies that mostly affect the pelvic and shoulder girdle muscle groups. We report here a case of neuromuscular disease associated with Dupuytren's contracture, which has never been described before as cosegregating
Pupillary capture of a posterior chamber lens following convulsive seizures.
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Přihlášení Registrace
Total pupillary capture of the optic of a posterior chamber intraocular lens (PC-IOL) occurred over 1 year after implantation, following severe, convulsive seizures. We suggest that the generalized seizures and associated extraocular muscle contractures created significantly elevated vitreous
Isolated perineal burn contractures presenting with chronic intestinal obstruction: a case report.
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Přihlášení Registrace
Isolated perineal burns are rare and so are perineal contractures. Perineal contractures may however lead to intestinal obstruction, which is a more life-threatening complication. A six-yr-old boy presented with chronic intestinal obstruction following isolated perineal contracture due to a
An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.
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Přihlášení Registrace
BACKGROUND
Genetic lipodystrophies are rare disorders characterized by partial or complete loss of adipose tissue and predisposition to insulin resistance and its complications such as diabetes mellitus, hypertriglyceridemia, hepatic steatosis, acanthosis nigricans, and polycystic ovarian
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.
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Přihlášení Registrace
Timothy syndrome (TS) is an autosomal dominant condition with the constellation of features including prolonged QT interval, hand and foot abnormalities, and mental retardation or autism. Splawski et al. [2004] previously described two phenotypes associated with TS distinguished by two unique and
New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.
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Přihlášení Registrace
We report on 4 generations in a family with 3 living males, 3 males who died in infancy, and 3 females with neurologic impairment and agenesis of the corpus callosum (ACC). Manifestations in the surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis,
Fetal seizures: further observations.
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Přihlášení Registrace
BACKGROUND
Previous reports of ultrasonographically diagnosed seizure activity in utero have described fetuses with obvious, gross, tonic-clonic movements of trunk and extremities.
METHODS
Three fetuses with akinesia deformation sequence are described: two with arthrogryposis multiplex congenita and
Epileptic seizure after treatment with thiocolchicoside.
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Přihlášení Registrace
BACKGROUND
Adverse drug reactions are important determinants of inpatient and outpatient morbidity. Thiocolchicoside is a semisynthetic derivate of naturally occurring colchicoside, which is largely used in humans as a centrally acting muscle relaxant. Epileptic seizures after thiocolchicoside
Obstructive sleep apnea syndrome and nocturnal epilepsy with tonic seizures.
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Přihlášení Registrace
Some ambiguous symptoms may delay or lead to an erroneous diagnosis. We present a case of pure sleep, generalized tonic seizures in a patient with concomitant sleep apnea syndrome. The prolonged apneic periods with tonic muscle contracture lasting minutes and occurring exclusively at night with
Epileptic seizures, arthrogryposis, and migrational brain disorders: a syndrome?
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Přihlášení Registrace
BACKGROUND
Arthrogryposis multiplex congenita (AMC) may be associated with multiple developmental defects. In some severely affected newborns with AMC, autopsy studies have suggested a common mechanism of malmigration at the spinal and cerebral levels. To our knowledge, a constellation of
Seizures as an Atypical Feature of Beal's Syndrome.
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Přihlášení Registrace
Congenital contractural arachnodactyly, commonly known as Beal's syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2) gene located on chromosome 5q23. It is an autosomal dominant inherited connective tissue disorder characterised by a Marfan-like body
Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.
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Přihlášení Registrace
Serine is a nonessential amino acid that plays a vital role in proper development and functioning of the central nervous system (CNS). Serine deficiency leads to microcephaly, intellectual disability, seizures, and psychomotor retardation in children and severe axonal neuropathy in adults. Serine
Bilateral anterior glenohumeral dislocation and coracoid processes fracture after seizure: acute MRI findings of this rare association.
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Přihlášení Registrace
We report a rare case of bilateral anterior shoulder dislocation associated with coracoid processes fracture after a seizure episode in a 37-year-old woman. This combination of findings is rare, especially by the presence of bilateral coracoid processes fracture. Possible mechanisms related are
A neonatal nonhuman primate model of gestational Zika virus infection with evidence of microencephaly, seizures and cardiomyopathy.
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Přihlášení Registrace
Zika virus infection during pregnancy is associated with miscarriage and with a broad spectrum of fetal and neonatal developmental abnormalities collectively known as congenital Zika syndrome (CZS). Symptomology of CZS includes malformations of the brain and skull, neurodevelopmental delay,
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