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Giacobbe Annamaria - - 2012
Abstract Mirror syndrome is a triad consisting of fetal hydrops, maternal edema and placentomegaly. Its pathogenesis is unclear and it is frequently mistaken for preeclampsia, even though distinguishing features can be identified. It is associated with an increase in fetal mortality and maternal morbility. We report an uncommon case of ...
Popowski T - - 2012
Duplication 17p11.2 (Potocki-Lupski syndrome (PTLS) MIM# 610883) is a genomic disorder with an estimated incidence of 1 in 25,000 births. As for other genomic disorders this duplication is typically de novo and is not associated with advanced maternal age or advanced paternal age. Herein we describe a prenatal diagnosis of ...
Aksglaede L - - 2012
47,XXY Klinefelter syndrome (KS) is the most common sex chromosome disorder affecting 1 in 660 newborn boys (1). Adolescent and adult patients with KS are characterised by hypergonadotropic hypogonadism, tall stature with eunuchoid body proportions, increased truncal fat and small testes, whereas no specific clinical or physical hallmarks have been ...
Saper Clifford B - - 2012
During illnesses caused by infectious disease or other sources of inflammation, a suite of brain-mediated responses called the sickness syndrome occurs, which includes fever, anorexia, sleepiness, hyperalgesia and elevated corticosteroid secretion. Much of the sickness syndrome is mediated by prostaglandins acting on the brain and can be prevented by nonsteroidal ...
Usenovic Marija - - 2012
The autophagy-lysosomal pathway plays an important role in the clearance of long-lived proteins and dysfunctional organelles. Lysosomal dysfunction has been implicated in several neurodegenerative disorders including Parkinson's disease and related synucleinopathies that are characterized by accumulations of α-synuclein in Lewy bodies. Recent identification of mutations in genes linked to lysosomal ...
de Souza Thayse Rodrigues - - 2012
Juvenile Sjögren's syndrome is a rare condition that affects children and adolescents with distinctive clinical features. Parotid swelling usually precedes regular oral and ocular symptoms, while typical serological findings may be absent. Hence, diagnosing juvenile Sjögren's syndrome may be challenging to the attending pediatric dentist, and long-term management without proper ...
Hao Jingwen - - 2012
Sheehan's syndrome, which is pituitary necrosis after severe postpartum hemorrhage and hypovolemia, may cause hypopituitarism immediately or several years later, depending on the degree of tissue destruction. We report an unusual case, in which a 55-year-old woman with Sheehan's syndrome got worse symptoms after spontaneous labor. In 1998, she had ...
Gulec U Kucukgoz - - 2012
To evaluate the impact of gestational age on clinical laboratory findings and maternal-perinatal outcomes in patients with HELLP syndrome. A retrospective review of 74 patients with HELLP syndrome between January 2007 and October 2010 was performed. Data were stratified into two groups by gestational age at the onset of disease: ...
Robalo Raquel - - 2012
Sheehan's syndrome occurs as a result of ischaemic pituitary necrosis due to severe postpartum haemorrhage. Improvements in obstetrical care have significantly reduced its incidence in developed countries, but postpartum pituitary infarction remains a common cause of hypopituitarism in developing countries. We report a case of severe postpartum haemorrhage followed by ...
Cereda Anna - - 2012
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated ...
Oliver Kate E KE Prenatal Assessment Center, Department of Obstetrics and Gynecology, Walter Reed National Military Medical Center, 8901 Wisconsin Avenue, Bethesda, MD 20889, - - 2012
Maternal mirror syndrome is a rare consequence of fetal hydrops. By convention, delivery is recommended in pregnancies complicated by mirror syndrome due to grave fetal prognosis. We describe a case of a dichorionic, diamniotic twin gestation complicated by hydrops fetalis of twin B. The patient declined selective feticide. Two weeks ...
Nørgaard Pernille P Fetal Medicine Unit, Department of Obstetrics and Gynecology, Hvidovre Hospital, University of - - 2012
Crouzon syndrome with acanthosis nigricans (CAN) is a very rare condition with an approximate prevalence of 1 per 1 million newborns. We add the first report on prenatal 2D and 3D ultrasound findings in CAN. In addition we present the postnatal 3D CT findings. The diagnosis was confirmed by molecular ...
Pehere Niranjan - - 2011
Posterior Microphthalmos Pigmentary Retinopathy Syndrome (PMPRS). Posterior microphthalmos (PM) is a relatively infrequent type of microphthalmos where posterior segment is predominantly affected with normal anterior segment measurements. Herein, we report two siblings with posterior microphthalmos retinopathy syndrome with postulated autosomal recessive mode of inheritance. A 13-year-old child had PM and ...
Kohannim Omid - - 2011
Streptococcal toxic shock syndrome is a potentially lethal condition with an increasing incidence over the last 30 years. We present the case of a 55-year-old patient with signs and symptoms of streptococcal toxic shock syndrome. This patient's presentation was unique in that it was followed by an accumulation of fluid ...
Kalra Ankur - - 2011
Bone cement implantation syndrome (BCIS) is a rare but potentially fatal intraoperative complication that occurs in patients undergoing cemented orthopedic surgeries. Lack of a robust definition of the syndrome due to rarity of the condition has probably contributed to under reporting of cases. We report a case of a 72-year-old ...
Marik Paul E - - 2011
PURPOSE OF REVIEW: Pulmonary aspiration syndromes are a common cause of morbidity and mortality. These syndromes are often misdiagnosed and their management is frequently suboptimal. This paper reviews the clinical features and management of the most common aspiration syndromes. RECENT FINDINGS: Pulmonary aspiration syndromes refer to a group of pulmonary ...
Nair Anjana - - 2011
Posterior reversible encephalopathy syndrome (PRES) in sickle cell patients has been rarely reported previously in the setting of severe crisis or uncontrolled hypertension. Here, we report a rare and unusual case of recurrent PRES in a young adult sickle cell patient without any obvious precipitating factors.
Malik Archana - - 2011
A 52-year-old female of Asian Indian origin underwent uncomplicated phacoemulsification with insertion of a foldable hydrophilic acrylic single-piece intraocular lens which resulted in good postoperative vision. Five weeks later she presented with decreased vision and examination revealed fibrosis as well as phimosis of the anterior capsular opening. Surgical capsulotomy was ...
Aridon Paolo - - 2011
Thrombotic thrombocytopenic purpura (TTP) is an autoimmune disorder characterised by fever, microangiopathic haemolytic anaemia, renal insufficiency, and thrombocytopenia. Neurological involvement, a prominent component of TTP, is characterised by a variety of brain lesions which include reversible cerebral oedema or magnetic resonance imaging (MRI) features of reversible posterior leukoencephalopathy syndrome (RPLS). ...
Petrovic Bojan D - - 2011
Posterior reversible encephalopathy syndrome (PRES) and venous thrombosis are frequently encountered first in the emergency setting and share some common characteristics. The clinical presentation in both entities is vague, and the brain parenchymal findings of PRES syndrome may resemble those of venous thrombosis in some ways. Both entities often occur ...
Choh Naseer A - - 2011
The posterior reversible encephalopathy syndrome (PRES) is characterized by patchy cortical and subcortical lesions in the distribution of the posterior circulation. The lesions are classically reversible. This syndrome has multiple etiologies, most of which cause acute hypertension. We present a case of PRES with involvement of the medulla and cervical ...
Antonio Imelda Digna Soberano ID Department of Medicine, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines. - - 2011
The diagnosis of endogenous Cushing's syndrome and its aetiology involved documenting the hypercotisolism and then determining whether that hypercortisolism is adrenocorticotropic hormone-dependent (ACTH-dependent) or not. Hence, following the algorithm, an undetected ACTH level points to an adrenal Cushing's while a detectable or elevated ACTH level points to either a pituitary ...
Yeniel Ahmet Özgür AÖ Department of Obstetrics and Gyneocology, Faculty of Medicine, Ege University, ─░zmir, - - 2011
Caudal regression syndrome is a rare congenital malformation with varying degrees of early gestational developmental failure. It is also known as sacral agenesis or caudal dysplasia. The cause of this malformation is thought to be defects in neuralization around the 28th day of the gestational period. Although maternal uncontrolled diabetes, ...
Grover Patrick J - - 2010
We describe a case of cerebral venous thrombosis presenting in a patient with Lane-Hamilton syndrome and coeliac disease epilepsy cerebral calcification syndrome. This is a first reported occurrence of this combination. Delayed anticoagulation with early external ventricular drain insertion for life-threatening raised intracranial pressure resulted in a successful outcome.
Yamamoto Hitoshi - - 2011
As seizures in the neonatal period have generally been identified only by direct clinical observation, there is frequently a lack of objectivity as to whether seizures are categorized as epilepsies or non-epilepsies. A major characteristic of neonatal seizures is electro-clinical dissociation and some electro-graphic seizures do not produce clinical symptoms. ...
Finsterer Josef - - 2010
There are some indications that seizure activity promotes the development of stroke-like episodes, or vice versa, in patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome or other syndromic mitochondrial disorders. A 41-year-old Caucasian female with MELAS syndrome, presenting with short stature, microcytic anaemia, increased blood-sedimentation rate, myopathy, hyper-gammaglobulinaemia, ...
Merchut Michael P - - 2010
Syndromes from antibodies to voltage-gated potassium channels include neuromyotonia (NMT), limbic encephalitis (LE) and Morvan syndrome (MVS). There are distinct clinical features for NMT (cramps, stiffness, fasciculations, myokymia, hyperhidrosis; afterdischarges and continuous motor activity on electromyogram), LE (encephalopathy with seizures, deficient recent memory; hyponatremia, temporal lobe magnetic resonance imaging and ...
Berry-Kravis Elizabeth - - 2010
A national survey of caregivers of individuals with fragile X syndrome addressed characteristics of epilepsy and co-occurring conditions. Of the 1,394 individuals (1,090 males and 304 females) with the full mutation, 14% of males and 6% of females reported seizures. Seizures were more often partial, began between ages 4 and ...
Prada Fredy - - 2010
In PHACE syndrome, the acronym PHACE stands for the association of posterior fossa malformations, cervicofacial hemangiomas, arterial anomalies, coarctation and eye anomalies. We report our findings in four patients with this syndrome, in whom it was characterized by complex aortic coarctation that required not only preoperative echocardiographic investigation, but also ...
Davis Larry E - - 2010
In the spring of 2009 a new triple-reassortant of influenza A (H1N1) virus appeared in Mexico and rapidly spread around the world, becoming a pandemic that primarily infected children and uncommonly older adults. Accompanying the pandemic were associated neurologic and muscular syndromes that affected primarily children and included febrile seizures, ...
Espeche Alberto Luis - - 2010
We report two patients, the first one had benign infantile seizures (BIS) associated with gastroenteritis (BISG), followed by BIS without gastroenteritis, in the second patient BIS was followed by BISG related to anti-rotavirus vaccine. After 12 and 6 months of follow-up, both patients had normal psychomotor development. BISG may be ...
Cuzzola Antonella - - 2010
Lennox-Gastaut syndrome is an intractable epileptic encephalopathy, with most patients experiencing daily seizures despite therapy with multiple antiepileptic drugs. New treatments need to be tested to define their efficacy in this syndrome. Lacosamide is a new antiepileptic drug recently approved for the treatment of partial-onset seizures. We describe three patients ...
Marino D - - 2011
Even after the introduction of new antiepileptic drugs, phenobarbital continues to be largely used in the treatment of epilepsy. We report the case of a 59-year-old woman with focal seizures with secondary generalization, treated with phenobarbital with normal serum levels. After thirty days she showed Sjogren-like symptoms, which resolved after ...
Miller Sarah - - 2010
Reading epilepsy is a rare epilepsy syndrome triggered by language related activity, in particular reading. Here we describe a patient with reflex seizures brought on specifically by reading in Arabic. The types of reading epilepsy, their typical clinical features, probable pathophysiology and management are discussed.
Al-Mahmood Ammar M - - 2010
We report a rare case of Alport syndrome with progressive posterior lenticonus. A 24-year-old male presented to our tertiary eye care center with history of poor vision. At initial presentation, the patient had bilateral anterior lenticonus, posterior subcapsular cataract, and renal failure. The patient was diagnosed with Alport syndrome based ...
Kozeis N - - 2010
We report on a patient who developed capsular block syndrome (CBS) in the early postoperative period with marked myopic shift in absence of anterior dislocation of the posterior-chamber intraocular lens (PC/IOL) and iris diaphragm. Treatment with focal 6-o'-clock Nd: YAG-capsulotomy resulted in complete visual acuity restoration. To the best of ...
Moutaouakil Fettouma - - 2010
Benign myoclonic epilepsy of infancy is a rare idiopathic generalized epileptic syndrome occurring below the age of 3 years. Although benign outcome is presumed, some recent studies suggest less favorable outcome. A 14-year-old boy had a history of repeated episodes of myoclonic jerks of the shoulders and upper limbs in ...
Reutlinger Constanze - - 2010
Seizure disorders of the rolandic region comprise a spectrum of different epilepsy syndromes ranging from benign rolandic epilepsy to more severe seizure disorders including atypical benign partial epilepsy/pseudo-Lennox syndrome,electrical status epilepticus during sleep, and Landau-Kleffner syndrome. Centrotemporal spikes are the unifying electroencephalographic hallmark of these benign focal epilepsies, indicating a ...
Vendrame Martina - - 2010
Rufinamide is a new antiepileptic drug recently approved as adjunctive treatment for generalized seizures in Lennox-Gastaut syndrome. We undertook a retrospective analysis of 77 patients with refractory epilepsy and receiving rufinamide to evaluate the drug's efficacy, tolerability, safety, and dosing schedules. It appeared efficacious in diverse epilepsy syndromes, with the ...
Visser Nora A - - 2011
Mutations in the gene encoding of the catalytic subunit of mtDNA polymerase gamma (POLG1) can cause typical Alpers' syndrome. Recently, a new POLG1 mutation phenotype was described, the so-called juvenile-onset Alpers' syndrome. This POLG1 mutation phenotype is characterized by refractory epilepsy with recurrent status epilepticus and episodes of epilepsia partialis ...
Specchio Nicola - - 2010
Panayiotopoulos syndrome (PS) is a common childhood susceptibility to autonomic seizures and status epilepticus. Despite its high prevalence, PS has been a source of significant debate. We present ictal EEG documentation of autonomic seizures and autonomic status epilepticus in six cases of PS and a review of 14 reported cases. ...
Specchio Nicola - - 2010
West Syndrome (WS) is a severe epileptic encephalopathy occurring in the first year of life. According the ILAE classification of epileptic seizures and epilepsy the etiology could be symptomatic or cryptogenic. Some authors identified a small group of patients (5%) with a particular good outcome, a complete recovery from seizures ...
Vendrame Martina - - 2010
Prader-Willi syndrome (PWS) is a genomic imprinting disease secondary to the loss of a functional paternal copy of 15q11-q13. Unlike its related imprinting disorder, Angelman syndrome, PWS has not been regarded as a risk factor for epilepsy. A retrospective analysis of 92 patients with PWS identified 24 (26%) with seizures. ...
Pintaudi Maria - - 2010
Epilepsy often occurs in Rett syndrome and is considered a major problem. The aim of this study was to define the clinical features of epilepsy and the correlation between seizures and both genotype and clinical phenotype in the Rett population. One hundred sixty-five patients with Rett syndrome referred to four ...
Kelley Sarah A - - 2010
Doose syndrome, otherwise traditionally known as myoclonic-astatic epilepsy, was first described as a unique epilepsy syndrome by Dr Hermann Doose in 1970. In 1989, the International League Against Epilepsy classified it formally as a symptomatic generalized epilepsy, and 20 years later it was renamed 'epilepsy with myoclonic-atonic seizures'. In this ...
Akiyama Tomoyuki - - 2010
To characterize very early onset symptomatic epilepsies electroclinically, to identify meaningful factors to delineate epilepsy syndromes under this category, and to test validity of the current syndromic organization of these epilepsies by the International League Against Epilepsy (ILAE). Subjects were 38 epileptic patients with seizure onset before 3 months of ...
- - 2010
These two brand names are too similar, while the international non-proprietary names (INNs) are clearly different: lamotrigine (an antiepileptic) and terbinafine (an antifungal drug).
Giovannini Simona - - 2010
Epilepsy is the most common and serious neurological symptom in ring chromosome 14 syndrome, also characterised by mild dysmorphisms, acquired microcephaly, cognitive impairment, hypotonia and ocular abnormalities. Typically, early-onset, polymorphous and drug-resistant seizures are reported. Status epilepticus has not been previously reported. We describe a nine-year-old Caucasian boy with ring ...
Karimzadeh Parvaneh - - 2011
This study attempted to elaborate the existence of a specific neurologic pattern observed in children who experienced neonatal hypoglycemia. Twenty-seven patients with seizure and history of neonatal hypoglycemia were compared with 28 children suffering from idiopathic occipital epilepsy. In both groups the most common type of seizure activities included eye ...
Deonna Thierry - - 2010
Early-onset acquired epileptic aphasia (Landau-Kleffner syndrome) may present as a developmental language disturbance and the affected child may also exhibit autistic features. Landau-Kleffner is now seen as the rare and severe end of a spectrum of cognitive-behavioural symptoms that can be seen in idiopathic (genetic) focal epilepsies of childhood, the ...
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