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Epidural analgesia is a widely used method of pain control in the labor and delivery setting but is not without risks. We present a case of Horner's syndrome and trigeminal nerve palsy as a rare complication of epidural analgesia in an obstetric patient. Although reported in few instances in the ...

We describe a delayed case of Horner's syndrome after the use of a peripherally inserted central line. Central vein thrombosis, a well-recognized complication of central venous access, led to temporary injury to the sympathetic tract in the neck. Presentation of Horner's syndrome with central venous access in place should be ...

We describe the case of a young woman with a recurrent right Bernard-Horner's syndrome associated with the onset of intermittent supraclavicular mass. Surgical excision of the mass revealed the endometrial pattern of the tumor and the close relationship between Bernard-Horner's syndrome and thoracic endometriosis. No other case of this syndrome ...

The authors describe two unrelated individuals with fragile X syndrome (FXS) due to marked expansion and instability of the CGG trinucleotide repeats within the fragile X mental retardation 1 gene (FMR1) and periventricular heterotopia (PH). This observation suggests that the FMR1 gene is involved in neuronal migration and that abnormal ...

Fragile X and Turner syndromes are associated with risk of atypical social function. We examined language use, including normal and atypical speech, during initial social interactions among participants engaged in a brief social role play with an unfamiliar adult. There were 27 participants with Turner syndrome, 20 with fragile X ...

Fragile X syndrome is the most common inherited form of mental retardation, affecting approximately 1 in 4,000 males and 1 in 8,000 females. DNA-based molecular analysis is the preferred method of diagnosis for fragile X syndrome and its premutations. Prenatal testing for fragile X syndrome should be offered to known ...

Referential communication was examined in youth with Down syndrome or fragile X syndrome in comparison to each other and to MA-matched typically developing children. A non-face-to-face task was used in which the participant repeatedly described novel shapes to listeners. Several dimensions of referential communication were especially challenging for the syndrome ...

In the present report, a case complicated with Horner's syndrome after off-pump coronary artery bypass (OPCAB) was presented. This case showed ptosis and miosis in the left eye promptly after OPCAB. No abnormal neurological findings other than Horner's syndrome were observed in postoperative examinations including head magnetic resonance imaging (MRI), ...

A 3-month-old girl was presented with a right-sided neck mass present since birth and accompanied by homolateral miosis, ptosis and enophthalmos (Horner's syndrome). Diagnostic work-up revealed an underlying cervical neuroblastoma. Although the association of Horner's syndrome with acquired neuroblastoma is well-known and of value in early diagnosing of such a ...

A new tremor-ataxia syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), has been described among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The prevalence of FMR1 premutation alleles has been reported to be 1 in 813 among men. Patients with FXTAS may also ...

Two studies were carried out to examine the persistence (Study 1) and characteristics (Study 2) of mathematics learning disability (MLD) in girls with Turner syndrome or fragile X during the primary school years (ages 5-9 years). In Study 1, the rate of MLD for each syndrome group exceeded the rate ...

Although the diagnosis of fat embolism syndrome is usually based on clinical findings, we describe ill-defined centrilobular and subpleural nodules in addition to ground-glass opacities and consolidation on a computed tomography scan of the chest in a trauma patient with fat embolism syndrome. The nodules presumably represent alveolar oedema, microhaemorrhage ...

The fragile X mental retardation 1 gene (FMR1) mutation causes two disorders: fragile X syndrome (FXS) in those with the full mutation and the fragile X-associated tremor/ataxia syndrome (FXTAS) in some older individuals with the premutation. FXS is caused by a deficiency of the FMR1 protein (FMRP) leading to dysregulation ...

To demonstrate the effect of apraclonidine on anisocoria and ptosis in Horner syndrome, one drop of 0.5% apraclonidine was instilled in both eyes of 3 patients who presented with acute Horner syndrome, and the effect on ptosis and anisocoria was documented. As reported in the literature, one drop of 0.5% ...

The authors present a case of a patient with dementia with mood symptoms and multiple neurological manifestations of fragile X-associated tremor/ataxia syndrome (FXTAS). Despite a gradually deteriorating neurological course, he was managed for 2 years with combination therapy of donepezil and venlafaxine, which resulted in improvement and relative stabilization of ...

A seventeen-year-old girl presented with acute otitis media, unilateral miosis and ptosis (partial Horner's syndrome) and tenderness of the ipsilateral jugular vein. A culture of the otorrhoea showed Staphylococcus aureus and Streptococcus pyogenes. A CT scan revealed an infiltrate near the ipsilateral carotid artery and jugular vein. The patient was ...

OBJECTIVE: The authors describe and quantify the neuropsychiatric symptoms present in a cohort of males with the fragile X mental retardation 1 (FMR1) premutation allele who have developed fragile X-associated tremor/ataxia syndrome (FXTAS). METHOD: Fourteen male carriers of the FMR1 premutation who had clinical manifestations of the FXTAS syndrome and ...

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive adult-onset tremor/ataxia syndrome caused by premutations in the FMR1 gene. In cranial MRI, the most characteristic findings are bilateral T2 hyperintense lesions within the middle cerebellar peduncles. Here we present a sibpair of two affected brothers presenting with very different symptoms (typical ...

A multiple-injured patient developed a very early onset fulminant fat embolism syndrome that was partially masked by haemorrhagic shock. Despite early diagnosis by transoesophageal echocardiography and aggressive symptomatic treatment, there was a rapid evolution to death. Post mortem examination revealed the presence of both pulmonary and systemic fat emboli. This ...

Autonomic control of ventilation is impaired in patients with Ondine's curse or congenital central hypoventilation syndrome (CCHS), but voluntary control remains intact. Bradyarrhythmias can be life threatening. In a patient with CCHS and long sinus pause requiring cardiac pacemaker insertion, a diaphragmatic pacemaker inserted in early childhood caused diaphragmatic pacer ...

A patient undergoing left mastectomy and immediate latissimus dorsi breast reconstruction under combined paravertebral block and general anaesthesia developed transient, well-demarcated, right-sided hemifacial erythema and sweating, and left-sided Horner syndrome postoperatively. This "harlequin" appearance occurs because of a normal or excessive vasodilatory, thermoregulatory response to heat or emotion mediated by ...

In this study, the authors compared the phonological accuracy and patterns of sound change of boys with fragile X syndrome, boys with Down syndrome, and typically developing mental-age-matched boys. Participants were 50 boys with fragile X syndrome, ages 3 to 14 years; 32 boys with Down syndrome, ages 4 to ...

The FMR1 gene is involved in two different syndromes: Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome (FXTAS). Fragile X syndrome is a childhood disease and is associated with mental retardation as the main clinical characteristic, whereas FXTAS develops in men and women over 50 years of age. FXTAS represents ...

This case report describes pacemaker-like syndrome after successful slow pathway ablation for atrioventricular (AV) nodal reentrant tachycardia due to recurrence of single AV nodal echo beats during sinus rhythm. The resultant AV dyssynchrony was responsible for the symptom complex. Following ablation of retrograde ventriculoatrial conduction, the AV nodal echo beats ...

Horner syndrome is considered a common finding after epidural analgesia or anesthesia in obstetric patients. Conversely, Horner syndrome is very uncommon in nonobstetric patients. We report 2 cases of Horner syndrome after attempted epidural lumbar anesthesia in 2 patients undergoing peripheral vascular surgery. Spinal fluoroscopy with contrast medium showed subdural ...

Fragile X syndrome, the most common genetic disorder associated with mental retardation is caused by an expansion of the unstable CGG repeat within the FMR1 gene. Although overgrowth is not the main hallmark of this condition, the fragile X syndrome is usually included in the differential diagnosis of children with ...

The past few years have seen an increased number of articles using Drosophila as a model system to study fragile X syndrome. Phenotypic analyses have demonstrated an array of neuronal and behavioral defects similar to the phenotypes reported in mouse models as well as human patients. The availability of both ...

PURPOSE: To report two cases of Horner's syndrome. One presented after the ablation of a schwannoma of the cervical sympathetic chain, the second after upper thorascopic sympathectomy for primary palmar hyperhidrosis. METHODS: A 42-year-old man underwent excision of a left neck mass found during routine physical examination. A 20-year-old girl ...

A 41-year-old man was diagnosed as having primary parotid carcinoma on the right side. After radical parotidectomy, radiation therapy and systemic chemotherapy, the primary parotid carcinoma was completely remitted. Two years later, right abducens nerve palsy and Horner syndrome appeared. Neuroimaging demonstrated a gadolinium-enhanced lesion in the posterior portion of ...

Fragile X syndrome is a leading heritable cause of mental retardation that results from the loss of FMR1 gene function. A Drosophila model for Fragile X syndrome, based on the loss of dfmr1 activity, exhibits phenotypes that bear similarity to Fragile X-related symptoms. Herein, we demonstrate that treatment with metabotropic ...

Fragile X syndrome is the most common heritable cause of mental retardation. Previous work has suggested that overactive signaling by group I metabotropic glutamate receptors (mGluRs) may be a mechanism underlying many of the disease symptoms. As a test of this theory, McBride et al. show that in a Drosophila ...

Pediatricians' and teachers' knowledge of physical, cognitive, and behavioral features associated with three genetic syndromes were assessed and the effectiveness of information sources about these syndromes evaluated. The surveyed sample included 53 pediatricians and 69 teachers from Northern and Central California. Respondents demonstrated limited knowledge regarding the physical phenotype of ...

The fragile X premutation tremor/ataxia syndrome (FXTAS) is a recently described adult-onset neurodegenerative disorder, in which ataxia, tremor, cognitive decline, parkinsonism, neuropathy and autonomic dysfunction occur in various combinations. It is reported to display a characteristic MRI appearance, with increased T2 signal in the middle cerebellar peduncles and around the ...

This case study describes a 65-year-old man initially diagnosed with an atypical rapidly progressive dementia who subsequently participated in a research project at the MIND Institute at the University of California-Davis, where he was diagnosed with a recently identified neurodegenerative syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS). He was a carrier ...

The aim of this study was to examine executive function (EF) skills in girls with fragile X or Turner syndrome, using the Contingency Naming Test (CNT). The CNT is a Stroop-like task involving a 1- or 2-attribute contingency rule. We predicted that girls with fragile X would make errors reflecting ...

Twiddler's syndrome is characterized by coiling of the pacemaker lead due to the rotation of the pacemaker generator on its long axis. Reel syndrome is another form of Twiddler's syndrome. It occurs due to the rotation of the pacemaker generator on its transverse axis with subsequent coiling of the pacemaker ...

OBJECTIVE: To describe management challenges and follow-up data for three years in a case with spontaneous carotid artery dissection (SCAD). CASE REPORT: We present a case of SCAD that presented with Horner's syndrome and headache. The patient developed the SCAD, Horner's syndrome and headache one month after a lumbar epidural ...

Fragile X syndrome is an X-linked disorder characterized primarily by speech delay and moderate mental retardation. The incidence of fragile X syndrome is estimated at 1/4000-1/6000 males and half that for females. This article presents a case study of fragile X syndrome, describing the genetics and inheritance, disease characteristics,natural history, ...

The discourse of individuals with fragile X syndrome has been described as fragmented, tangential, and associatively connected, resulting in autobiographical narratives that are incoherent and difficult to understand. In this article, the authors discuss the case of an adolescent female with moderate mental retardation due to fragile X syndrome. The ...

OBJECTIVES: We evaluated the incidence, predictors, and treatment of pacemaker syndrome in patients with sinus node dysfunction treated with ventricular-based (VVIR) pacing in the Mode Selection Trial (MOST). BACKGROUND: Pacemaker syndrome, or intolerance to VVIR pacing, consists of cardiovascular signs and symptoms induced by VVIR pacing. METHODS: The definition of ...

The psychological well-being of mothers raising a child with a developmental disability varies with the nature of the disability. Most research, however, has been focused on Down syndrome and autism. We added mothers whose adolescent or young adult son or daughter has fragile X syndrome. The sample was comprised of ...

Horner's syndrome is the triad of miosis, ptosis, and anhidrosis that results from disruption of the sympathetic pathways between the brain and the eye. Although the individual signs of Horner's syndrome do not constitute an emergency, their presence makes any Horner's syndrome a potential vascular emergency due to the proximity ...

Tube thoracostomy is a common therapeutic approach applied in medical practice. Certain complications of this procedure have been described in the literature. Oculosympathetic paresis, or Horner's syndrome, occurs from the interruption of second order preganglionic neurons and manifests as miosis, ptosis, hemifacial anhidrosis and enophthalmos. Iatrogenic Horner's syndrome, on the ...

This is the first case report of a chinese patient with SUNCT (shortlasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing) presenting with persistent Horner's syndrome. She had episodic, brief, right periorbital pain in association with ipsilateral eye injection, lacrimation and rhinorrhea as well as persistent ipsilateral miosis and ...

Individuals with fragile X mental retardation 1 (FMR1) premutation (55 to 200 CGG repeats) are typically unaffected by fragile X syndrome. However, a subgroup of older males with the premutation have developed a neurological syndrome, which usually begins between 50 and 70 years and is associated with a progressive intention ...

Carriers of fragile X mental retardation 1 (FMR1) premutation alleles (55 to 200 CGG repeats) are generally spared the more serious neurodevelopmental problems associated with the full-mutation carriers (>200 repeats) of fragile X syndrome. However, some adult male premutation carriers (55-200 repeats) develop a neurological syndrome involving intention tremor, ataxia, ...

Fragile X syndrome is the leading inherited form of mental retardation, and second only to Down's syndrome as a cause of mental retardation attributable to an identifiable genetic abnormality. Fragile X syndrome is caused by a defect in the fragile X mental retardation 1 gene (FMR1), located near the end ...

Horner syndrome refers to the constellation of signs resulting from the interruption of sympathetic innervation to the eye and ocular adnexae. Classically, the clinical findings include a triad of ipsilateral blepharoptosis, pupillary miosis, and facial anhidrosis. The history, additional clinical examination features, and pharmacologic testing may help localize the lesion ...

This report describes the occurrence of both pacemaker syndrome and a pacemaker-like syndrome (so-called "pseudopacemaker syndrome") in a patient who exhibited an atrioventricular junctional rhythm probably on the basis of sick sinus syndrome. The clinical and hemodynamic manifestations of the two clinical situations were similar and associated with regular retrograde ...