PURPOSE: To alert ophthalmologists to the possibility of brainstem ischaemia in patients with isolated Horner's syndrome. DESIGN: Observational case report. METHODS: Neuro-ophthalmological and neuroimaging assessment of a 59-year-old woman presenting with an isolated Horner's syndrome after an episode of headache. RESULTS: Horner's syndrome was pharmacologically localised to a first- or ...

BACKGROUND: Although it has been frequently stated that thyroid disease induces Horner's syndrome, there have been few reports describing the anatomical relation of goiter to the cervical preganglionic sympathetic nerve fibers in acquired Horner's syndrome, which is identified by the eye-drop test for adrenergic sensitivity. CASE: A 40-year-old woman with ...

The FMR1 gene is involved in three different syndromes, the Fragile X syndrome, premature ovarian failure (POF) and the Fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expanded CGG repeat above 200 units in the FMR1 gene resulting in the absence of the ...

BACKGROUND AND PURPOSE: We prospectively studied the incidence and natural history of Horner syndrome following stent-supported percutaneous angioplasty of the carotid artery (SPAC). We assessed the hypothesis that postinterventional Horner syndrome is related to ipsilateral carotid wall hematoma. METHODS: We performed duplex sonography of the carotid arteries and clinical examination ...

A 47-year-old woman presented with headache, acute monocular vision loss, and ipsilateral Horner syndrome. Apart from the optic neuropathy, all cranial nerve function was intact. Magnetic resonance imaging revealed an enlarged pituitary gland with compression of the orbital apex. The surgical specimen was consistent with pituitary apoplexy. The combination of ...

Fragile X syndrome carriers have FMR1 alleles, called premutations, with an intermediate number of 5' untranslated CGG repeats between patients (>200 repeats) and normal individuals (<60 repeats). A novel neurodegenerative disease has recently been appreciated in some premutation carriers. As no neurodegeneration is seen in fragile X patients, who do ...

To gain insight into the specificity of cerebellar vermian abnormalities reported in autism, we conducted a magnetic resonance imaging (MRI) study of boys with either of two conditions associated with autism, Down syndrome and fragile X syndrome, compared with boys with idiopathic autism and controls. The subjects, ranging in age ...

Recently it has been reported that late-onset tremor, gait unsteadiness and dementia can be associated with brain atrophy in males of normal intelligence and the pre-mutation carrier state of the fragile X syndrome. We have shown, by means of a telephone survey, that this association is probably causal rather than ...

Twiddler's syndrome is a well-known complication of pacemaker treatment. It was first described by Bayliss et al. when a patient manipulated and rotated the pulse generator in the pocket so many turns that it resulted in lead dislodgment, diaphragmatic stimulation and loss of capture. In this case report we present ...

Waardenburg and congenital Horner syndromes are both recognized causes of congenital hypochromic iris heterochromia. Each has been linked to disruptions in the pathway of tyrosinase induction, thus leading to a deficiency in melanin production of the iris. These syndromes must be considered in the differential diagnosis of a patient presenting ...

Horner's syndrome is a complication of epidural analgesia and anesthesia, encountered more commonly in pregnant women than in other patients. Previous reports described the appearance of Horner's syndrome following epidural injection of concentrated local anesthetic solutions. We report unilateral Horner's syndrome occurring in the setting of lumbar epidural analgesia for ...

We investigated the receptive language of adolescents and young adults with Down syndrome (n = 25) or fragile X syndrome (n = 19). We were interested in syndrome differences and gender differences within fragile X. Comparison of the syndromes and MA-matched typically developing children (n = 24) revealed that individuals ...

BACKGROUND: Horner's syndrome results from disruption of the sympathetic innervation to the eye anywhere along its three-neuron circuit. It is essential to be familiar with the oculosympathetic pathway, the structures that are in close proximity to it, and the disease processes that may interrupt it when an evaluation is made ...

A patient with Horner syndrome from internal carotid artery dissection initially had a false negative hydroxyamphetamine test. Two months later, the ophthalmic signs had disappeared but the hydroxyamphetamine test was positive. This case illustrates that hydroxyamphetamine testing may be falsely negative in acute Horner syndrome because norepinephrine stores in oculosympathetic ...

The development of personal computer-based infrared video instruments has allowed pupillography to enter the clinical arena. Measuring pupil diameter for refractive surgery, distinguishing Horner syndrome from physiologic anisocoria, quantifying the relative afferent pupillary defect, and plotting visual fields by means of graded pupil constriction to focal light stimuli are recent ...

Fragile X syndrome - a common form of inherited mental retardation - is caused by the loss of the fragile X mental retardation 1 protein (FMRP). FMRP is an RNA-binding protein which forms a messenger ribonucleoprotein (mRNP) complex that associates with translating polyribosomes. It has been proposed that FMRP is ...

Social skills impairment in children with Turner or fragile X syndrome has been documented using parental reports. Anxiety, shyness, and difficulty understanding social cues have been reported for females with Turner syndrome; whereas social withdrawal, avoidance of social interactions, and anxiety are often reported for females with fragile X syndrome. ...

We report on a 34-year-old developmentally disabled man referred to our clinic for evaluation of possible Prader-Willi syndrome on the basis of obesity and voracious appetite. Cytogenetic and molecular analysis revealed a 47, XYY karyotype and the presence of a trinucleotide repeat expansion resulting in fragile X syndrome. To our ...

The concurrence of fragile X and Klinefelter syndromes would be expected occasionally. Therefore, the analysis of the literature showed that the concurrence of both conditions was found at least 16 times. Among them, only seven cases were analyzed for the parental origin of the extra chromosome X, suggesting that the ...

Fragile X syndrome is a neurodevelopmental disorder that is not known to have any progressive neurological sequelae in adulthood. However, a neurological condition involving intention tremor, ataxia, and cognitive decline has recently been identified among older male carriers of premutation alleles of the FMR1 gene. This condition is clinically distinct ...

Two patients developed fat embolism syndrome after revision of loose total hip arthroplasties (THAs). During both procedures, the prosthesis became rigidly fixed 1 to 1.5 cm before the expected level of fixation. After uncomplicated operative courses, Patient A remained obtunded and febrile for 2.5 days, and Patient B died 1 ...

A 63-year-old woman presented with an isolated axial lateropulsion as a sole manifestation of lateral medullary infarction. She had no vertigo, nystagmus, dysphagia, hiccup, facial/hemisensory loss, Horner syndrome, and limb ataxia. Brain MRI showed a small infarct selectively involving the most dorsolateral portion of the rostral medulla. This patient illustrates ...

The absolute reliance on abnormal neuro-ophthalmologic findings as signposts for particular lesions of the neuraxis must be tempered by a working knowledge of false and nonlocalizing signs and symptoms. Transient monocular visual loss or complex visual hallucinations may lead to neuroanatomic ambiguity, and elevated intracranial pressure is not the most ...

Fragile X syndrome is the most common cause of mental retardation known to be inherited. The syndrome results from the suppressed expression of a single protein, the fragile X mental retardation protein (FMRP). Understanding the function and regulation of FMRP can, therefore, offer insights into both the pathophysiology of fragile ...

This report highlights transient Horner's syndrome and trigeminal nerve palsy following labor epidural analgesia. A 29-year-old primigravida had a lumbar epidural catheter placed for analgesia in labor. The analgesia was maintained by infusion of a dilute local anesthetic/opioid mixture and turned off after achieving complete cervical dilation. Approximately 1 hour ...

Horner's syndrome is a rare side effect of epidural analgesia. In association with ipsilateral brachial plexus block, it has only been reported once before, in French. Unilateral blockade has also been reported, although its etiology is unclear and may be multifactorial. The patient described here experienced an asymmetrical epidural blockade ...

Since the development of a molecular diagnosis for the fragile X syndrome in the early 1990s, several population-based studies in Caucasians of mostly northern European descent have established that the prevalence is probably between one in 6,000 to one in 4,000 males in the general population. Reports of increased or ...

Fragile X syndrome, the most common form of inherited mental retardation, is caused by loss-of-function mutations in the fragile X mental retardation 1 (fmr1) gene. FMR1 is an RNA binding protein that is highly expressed in neurons of the central nervous system. Recent studies in Drosophila indicate that FMR1 plays ...

Fragile X syndrome is a neurodevelopmental disorder that results from a single gene mutation on the X chromosome. It is the most common genetic cause of learning disability, though many patients remain unrecognized. Fragile X syndrome is characterized phenotypically mainly by a long coarse face, prominent ears and macro-orchidism. Affected ...

PURPOSE: To alert ophthalmologists to the possibility of a spinal cord lesion in individuals with Horner syndrome and no neurologic symptoms. DESIGN: Observational case report. METHODS: Neuro-ophthalmic and neuroimaging assessment of a 16-year-old man with an isolated Horner syndrome localizing to a first- or second-order neuron. RESULTS: With magnetic resonance ...

The authors present a 59-year-old woman who had a severe fat embolism syndrome develop after an uncemented total hip arthroplasty. The fat embolism syndrome was confirmed by clinical, laboratory, and imaging findings. The patient had a favorable outcome most likely related to early supportive therapy, her healthy background, and young ...

The authors report a case of pulmonary fat embolism syndrome without identifiable cause that was seen on chest radiographs and high-resolution computed tomography as diffuse ground-glass attenuation, particularly in nondependent portions of both lungs. The radiologic findings were shown on open-lung biopsy to represent diffuse pulmonary hemorrhage caused by fat ...

PURPOSE: Description of a complication from tube thoracostomy. METHODS: Case report from experience at an Air Force tertiary care hospital in a 50-year-old female smoker undergoing left upper lobectomy for lung cancer. RESULTS: Horner's syndrome resulted 18 hours after removal of an apical thoracostomy tube. CONCLUSIONS: Horner's syndrome caused by ...

A 9-year-old, spayed female, Airedale Terrier was euthanatized and necropsied after a progressive clinical course that included Horner's syndrome of the left eye and unilateral atrophy of the masticatory muscles. Although gross lesions were limited, a polyradiculoneuritis and ganglionitis that was most severe in the trigeminal nerves and ganglia were ...

Although thyroid goiter is a common condition, it rarely results in Horner's syndrome. We report a case of a patient with an intrathoracic multinodular goiter complicated by Horner's syndrome. Benign thyroid disease was confirmed pathologically, and the patient's symptoms improved after surgery. In the literature, the major cause of Horner's ...

PURPOSE: To highlight that internal carotid artery dissection is a common cause of Horner's syndrome and that it is important to diagnose dissection as anticoagulation can prevent carotid thrombosis and embolism. METHODS: Five case reports are presented of patients with Horner's syndrome secondary to carotid dissection. One patient had carotid ...

Interruption of the postganglionic neuron in the sympathetic pathway to the eye is reported to be a common cause of Horner's syndrome in the cat, although there are few clinical reports identifying the site and nature of the lesion responsible. A case of Horner's syndrome resulting from trauma to the ...

In this paper, we report on the results of our research, which is designed to address two broad questions about the cognitive and linguistic profile of Down syndrome: (1) Which domains of functioning are especially impaired in individuals with Down syndrome? and (2) Which aspects of the language and cognitive ...

A series of 117 cases of Pierre Robin Sequence are classified as isolated (48%), syndromic (35%), and with associated anomalies (17%); the latter group had a poor long-term prognosis. In isolated Pierre Robin Sequence, familial cases and a high incidence of twins were noted. Among syndromic Pierre Robin Sequence, 4 ...

PURPOSE: To evaluate if an ocular sympathetic lesion may be a prerequisite for cluster headache to occur. METHODS: Patients with a permanent Horner-like syndrome at the debut of cluster headache were identified from history and photographs. RESULTS: Among 57 patients with cluster headache, seven patients (5 males and 2 females) ...

We present three cases of people who developed Horner's syndrome following repeated attempts for catheterization of the internal jugular vein for hemodialysis. Any other neurologic finding or evidence of mass lesions in the neck or pulmonary apex could not be determined. Horner's syndrome should be considered a possible complication of ...

Nearly 15 years ago, female carriers of the fragile X mental retardation syndrome were noted to have an increased incidence of twin pregnancies. Since then, much evidence has accumulated supporting the notion of ovarian dysfunction in fragile X carriers, in the forms of increased dizygotic twinning and premature ovarian failure. ...

In the context of a longitudinal study, we assessed the relationship between ratings of autistic behavior, FMR1 protein expression (FMRP), and the developmental trajectories of 55 young males with fragile X syndrome. Autistic behavior, as measured by the Childhood Autism Rating Scale, was not related to FMRP expression. However, autistic ...

The postpericardiotomy syndrome is a well-known complication of opening and manipulating the pericardium. The occurrence of this syndrome following transvenous pacemaker insertion is very rare, and only 5 cases have been reported to date. The present patient repeated this syndrome 3 times in a short period following 3 different interventional ...

PURPOSE: To report a case of Horner syndrome that occurred after implantation of a vagus nerve stimulator. METHODS: Case report. RESULTS: A 6-year-old female with cerebral dysgenesis and intractable partial seizures presented with Horner syndrome after vagus nerve stimulator implantation. CONCLUSION: Horner syndrome can occur as a result of the ...

Fat embolism syndrome is a collection of respiratory, haematological, neurological and cutaneous symptoms and signs associated with trauma and other disparate surgical and medical conditions. The incidence of the clinical syndrome is low (< 1% in retrospective reviews) whilst the embolisation of marrow fat appears to be an almost inevitable ...

BACKGROUND: Upper dorsal thoracoscopic sympathectomy, the treatment of choice for primary palmar hyperhidrosis, is not devoid of long-term complications, like Horner's syndrome and postoperative neuralgia. It has been postulated that propagation of heat induced by diathermy may be responsible for some of these sequelae. To assess this hypothesis, a study ...

BACKGROUND: Ross syndrome is an uncommon disorder characterized by the triad of segmental anhidrosis, hyporeflexia, and tonic pupils. METHODS: The authors describe the clinical findings of five patients with Ross syndrome and detail the results of their pharmacologic and autonomic testing. RESULTS: In four patients, the classic findings of Ross ...

We present a family with an unusual association of two frequent genetic disorders, 22q11.2 microdeletion and fragile X syndrome, originating from the same parent. Our observation confirms the wide intrafamilial clinical variability of the 22q11.2 microdeletion and illustrates the difficulty of the clinical diagnosis for the fragile X syndrome in ...

OBJECTIVES: Various reports have noted a high incidence of idiopathic Horner syndrome in golden retriever dogs. The author seeks to document this condition in the breed. MATERIALS AND METHODS: A prospective study was made of cases of Horner syndrome in dogs referred to the author throughout a 10-year period. As ...