contracture/seizures

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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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