Fragile X syndrome is a common cause of mental retardation. We report the clinical and pathologic features of a patient with fragile X syndrome who developed amyotrophic lateral sclerosis (ALS) at a relatively young age. Although the occurrence of these 2 diseases could be a mere coincidence, the development of ...

Fat embolism syndrome (FES) is a well-known complication of total hip arthroplasty (THA). FES occurs less frequently in total knee arthroplasty (TKA) than in THA. A 67-year-old woman developed FES after placement of the intramedullary femoral alignment guide during TKA. The diagnosis is based upon a subtle, but significant change ...

Fragile X syndrome is the most important X-linked etiology of mental retardation and developmental disability currently known. Accumulating evidence also indicates that male and female carriers of the fragile X genetic abnormality demonstrate a relatively specific pattern of psychiatric disturbance. Fragile X males frequently manifest behaviors from the autistic spectrum ...

Deviant, repetitive language of 33 males (9 with Down syndrome, 12 with fragile X (fra[X]) syndrome, and 12 with autism) was analyzed within three conversational contexts: direct responses, initiation of new material, and topic maintenance. Results indicated that males with fra(X) manifest deviant, repetitive language that is distinct from males ...

A patient with a dual-chamber pacemaker presented with rhythmic contractions of her right hemidiaphragm. The atrial lead of her pacemaker had retracted into the right subclavian vein, causing pacing of the right phrenic nerve. The cause of the lead displacement is unknown, but may have resulted from unintentional manipulation of ...

Neurologic manifestations of Lyme disease are common, often debilitating, and potentially treatable. We document a case of Borrelia infection of the nervous system manifesting as a reversible Horner's syndrome. The search for Lyme disease should be part of the evaluation of an isolated central or preganglionic Horner's syndrome or any ...

Chronic fatigue syndrome, previously known as chronic mononucleosis or post-infectious fatigue, is a poorly understood illness characterized by chronic debilitating fatigue, recurrent flu-like symptoms, and few clinical or laboratory abnormalities. Attention was briefly focused on the Epstein-Barr virus (EBV) as a causal agent, but that hypothesis is now in serious ...

Horner's syndrome occurred in a young woman as a complication of the treatment of a traumatic pneumothorax with an intercostal drain. The nerve damage probably occurred when the lung had fully re-expanded, pressing the tip of the intercostal drain, lying at the apex of the pleural cavity, on to the ...

Two patients with a Horner's syndrome due to a probable 3rd neurone lesion were examined with regard to the pupillometric and evaporimetric patterns. The results are compared with those found in patients with a Horner's syndrome due to a 1st or 2nd neurone lesion, previously described by our group. Concurring ...

Twenty three patients with fragile X syndrome underwent cardiovascular assessment. Echocardiography showed dilatation of the aortic root in 12 (52%) and mitral valve prolapse in five (22%), four of whom had an apical mid-systolic click on auscultation. Patients with fragile X syndrome have cardiac defects similar to those seen in ...

Fragile X syndrome is one of the most intriguing genetic conditions now being studied. As the most common inherited form of mental retardation, it has an incidence of approximately 1 in 1000 male infants and boys. Because the cytogenetic diagnosis has only recently been available, many affected boys and female ...

The authors report four cases of fat embolism syndrome following total hip arthroplasty using cementless acetabular press-fit components and cemented press-fit femoral components. Factors implicated in the production of this syndrome following "hybrid" total hip arthroplasty include increased canal pressure during femoral reaming and prosthetic insertion, retained marrow elements and ...

Fragile X [Fra(X)] syndrome is an example of a heritable fragility syndrome associated with mental retardation. It is characterized by a fragile site on the X chromosome at Xq27-28. There have recently been three reports of malignant solid tumors associated with Fra(X) syndrome. We describe the first case of a ...

We analyzed the metacarpophalangeal pattern profile (MCPP) on 18 male individuals from 16 families with fragile X--fra (X), or Martin-Bell--syndrome and calculated a mean syndrome profile. Fourteen of 18 individuals with fra (X) syndrome had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with fra (X) syndrome ...

We observed the development of Horner's syndrome 25 min after the intrapleural administration of 30 cc of 0.5% bupivacaine to a patient with post-herpetic neuralgia in the thoracic region. The patient reported immediate relief of pain. There was no change in blood pressure or pulse rate, and no discernible level ...

An 18-year-old mentally retarded male with the Martin-Bell syndrome was fragile X positive. He died suddenly with viral pneumonia and myocarditis. At autopsy, generalized tubular hypoplasia of the aorta and a mild coarctation were discovered. The base of the mitral and tricuspid valves showed striking aberrations in elastin distribution and ...

During the course of the preventative screening program for the fra(X) syndrome, we identified 32 men with the phenotype but who were fra(X) negative. These were reviewed and none fitted the full criteria, so we were unable to confirm the existence of the fra(X) negative Martin-Bell syndrome. The literature and ...

In this paper we report on a third patient with Klinefelter syndrome and fragile X. In the Leuven experience the simultaneous occurrence of both conditions is 1:155 (3 fra(X) positive Klinefelter patients in a total number of 465 fra(X) positive males), a concurrence much higher than expected by chance considering ...

Sympathetic fibers destined for the eye join the abducens nerve for a short distance within the cavernous sinus; thus, a unilateral sixth nerve palsy with an ipsilateral Horner's syndrome is of significant localizing value. We report two cases of cavernous sinus lesions producing an ipsilateral abducens palsy and Horner's syndrome: ...

Diarrhea is a symptom of a large number of serious organic illnesses, but it is also a cardinal symptom of the irritable bowel syndrome (IBS). A complete history and physical examination will narrow the etiologic possibilities greatly, as will a few routine screening tests. If the symptom seems to be ...

Ten cases of Horner's syndrome with pharmacologic testing and computed tomography scans are described in patients up to age 8 years. The patients also were assessed for iris color and facial sweating. Classical preganglionic Horner's syndrome associated with brachial plexus birth injury was not identified in any case. Two patients ...

Horner's syndrome (cervical sympathetic paralysis) typically includes ptosis, miosis, enophthalmos and facial anhidrosis. However, the effect of sympathetic denervation upon the nasal mucosa should be included as a prominent feature, since nasal obstruction is often the most disabling sequel. The anatomical, physiological, and historical basis is discussed and surgical management ...

A 5-year-old male Doberman Pinscher had nasal stenosis, dropped mandible, bilateral atrophy of masseter and temporalis muscles, and Horner's syndrome caused by aleukemic myelomonocytic leukemia. Neoplastic cellular neurotropism, diffuse turbinate and nodular peribronchial infiltrate, and a hepatic portal infiltrative pattern similar to that of lymphoma were microscopic features of interest.

The fragile X syndrome is the most common inherited form of mental retardation known. Its phenotype includes large or prominent ears, macroorchidism, and characteristic behavioral problems. It has attracted the interest of cytogeneticists and molecular biologists because of its characteristic fragile site on the X chromosome. It has puzzled geneticists ...

Horner's syndrome is rare. A bullet wound in the neck is a rare cause of the syndrome, and it is exceedingly uncommon for a Horner's syndrome to be the sole noteworthy clinical result of a gunshot wound of this part of the anatomy. Two cases of bullet injury of the ...

Retrospective, longitudinal data were obtained on 21 boys with the fragile X syndrome to assess whether their IQs declined during childhood. For the group as a whole, IQs dropped significantly; 13 boys showed a significant decline at retest. Our results are consistent with reports that young boys with the fragile ...

Hypothenar hammer syndrome is an uncommonly recognized, occupationally associated cause of Raynaud's phenomenon, induced by traumatic compromise of the vascular supply to the hand. Two patients are presented, one with preexisting Raynaud's phenomenon who sought attention after the development of cutaneous ulcers. The features of the syndrome are reviewed, and ...

We report on the case of a 33-year-old woman with sick sinus syndrome who had an orthodromic pacemaker circus movement tachycardia (PCMT), with antegrade atrioventricular (AV) conduction and a retrograde pathway by means of a DDD (AV universal) pacemaker. This PCMT was provoked and sustained by premature ventricular contraction-synchronous atrial ...

A patient with tachy-brady syndrome manifested by paroxysmal atrial fibrillation and symptomatic sinus bradycardia and treated by VVI pacing developed pacemaker syndrome during episodes of ventricular pacing. His cardiac pacemaker was revised to a dual chamber system utilizing the new AV sequential DDI pacing mode which eliminated pacemaker-related tachycardias and ...

P300 (P3) and other long latency auditory event-related potentials (ERPs) were recorded in 33 adults with fragile X syndrome. All patients had an abnormal P3. It was longer in latency and smaller in amplitude than in controls. In several cases, it was split into two separate components, and in others, ...

Fragile X syndrome, second only to Down syndrome among etiologies of mental retardation, was discussed. Clinical, intellectual, and anthropometric characteristics from 67 fragile X positive males, 35 fragile X positive females, and 27 obligate carriers among 29 families was presented. Regression analysis showed little correlation between level of intellect and ...

During screening of male individuals for Fragile-X syndrome in a residential facility for persons with mental retardation, the authors found a 21-year-old profoundly retarded man who displayed facial features and behaviour suggestive of Fragile-X syndrome. The chromosome analysis revealed 47,fra(X)(q27)fra(X)(q27)Y. His physically and intellectually normal sister had 14% of X ...

Surgery was performed in patients with Raynaud's disease (primary Raynaud symptoms) or with Raynaud symptoms as part of the cervical rib/scalenus-anticus syndrome (secondary Raynaud symptoms). In 13 arms with primary, and six with secondary Raynaud symptoms with trophic changes, the aim was extensive sympathectomy. Good results, without Horner's syndrome, were ...

Fifty-five adults who had sustained a tibial fracture, or a femoral fracture, or both, were subjected to a double-blind randomised study to determine the efficacy of methylprednisolone in treating the fat embolism syndrome. This drug maintained arterial oxygen levels, stabilised or reduced the serum level of free fatty acids, and ...

Anatomic reports have demonstrated that the sympathetic fibers leave the carotid plexus to join the abducens nerve in the posterior part of the cavernous sinus. A lesion in this area may cause both an abducens nerve palsy and ipsilateral Horner's syndrome. This article details two additional cases of this uncommon ...

In an investigation to find the prevalence of the fragile X (Martin Bell) syndrome in a mental handicap hospital, chromosomal investigations were carried out in 196 males selected out of a total of 512, and also in 20 female patients who were related to some of the selected males. Fragile ...

There may be several cognitive features that characterize fragile-X syndrome in both males and females. Since this study is one of the few that examines noninstitutionalized individuals with the syndrome, future studies of affected individuals should continue to include formal assessment of their cognitive skills. Likewise, the examination in this ...

Horner's syndrome developing early after lung biopsy is reported in a 42-year-old woman. At the end of the procedure a thoracostomy tube was inserted with its tip at the T1-2 posterior intercostal space. The authors conclude that direct injury to the second order preganglionic neuron in the vicinity of the ...

We prospectively studied the value of the cocaine test in the diagnosis of Horner's syndrome, by performing the test in 20 control subjects and in 20 patients with a provisional diagnosis of Horner's syndrome. Photographic testing of the darkness reflex of the pupil was used as an independent criterion of ...

Horner's syndrome or oculosympathetic paralysis is not an uncommon finding in patients with head and neck neoplasms. While in most cases the syndrome is easily established at the bedside, it can be confirmed and topographically defined as a central, preganglionic, or postganglionic lesion through sequential pharmacologic testing. The importance of ...

Melatonin profiles were studied in five males with cytogenetic and clinical features of the fragile-X syndrome including megalo-orchidia and macrogenitosomia. In comparison with age-matched normal controls, the fragile-X group showed lower melatonin values and a significant impairment of the nocturnal rise in this hormone. Melatonin deficiency may thus be responsible ...

We present two women with the fragile X syndrome (Martin-Bell syndrome) and autism. Both are mentally retarded, one mildly and one severely. Cytogenetic studies showed a high percentage of lymphocytes with the fragile X chromosome and inactivation occurring preferentially in the normal X chromosome. Autism is shown to be a ...

We report on an 11 1/2-year-old boy with neurofibromatosis and the fragile-X syndrome. Clinical manifestation of neurofibromatosis include multiple cafe-au-lait spots, axillary freckles, congenital glaucoma, relative macrocephaly, radiologic findings of overtubulation of the long bones, and precocious puberty. The fragile-X syndrome manifests itself as mental retardation with behavior problems, macro-orchidism, ...

The fragile site at Xq27 is expressed in vitro under conditions that lead to decreased intracellular thymidine triphosphate concentration, a condition which has also been shown to promote the misincorporation into DNA of deoxyuridine monophosphate (dUMP) in place of thymidine. We tested for increased whole-cell misincorporation of dUMP as a ...

The fragile X syndrome is a relatively common form of mental retardation that tends to affect boys more severely than girls. The syndrome is associated with a fragile site at q27 on the X chromosome and with physical features including large or prominent ears and macro-orchidism. Four boys had physical ...

Monozygous twin 14-year-old mentally retarded boys with the fragile X syndrome were treated either with 10 mg folic acid by mouth daily or with a placebo for three test periods of 3-month duration each in a blind study. For each twin, tests of cognitive functioning, reading, spelling, and math skills, ...

A prenatal diagnosis of the fragile-X syndrome in monozygotic male twins is reported. The expression of the fragile site was discordant in amniotic cells. Fetal blood and, after therapeutic abortion, skin fibroblasts were positive in both fetuses. Our data suggest that great care should be taken when using amniocytes for ...

The effect of folic acid intake on the frequency of fragile X positive cells and some behavioural characteristics were evaluated in 5 boys and 4 adult males with the fragile X syndrome. The expression of fragile X was nullified in 6 and decreased in 3 of the 9 patients. Behavioural ...

A case report of an 11-year-old Caucasian boy with the fragile X syndrome is presented. The fragile X syndrome is a form of X-linked mental retardation with a connective tissue component that involves mitral valve prolapse. Antibiotic prophylaxis, electrocardiographic abnormalities, and special anesthetic management considerations are elements of treating patients ...

A preganglionic Horner's syndrome developed shortly after ipsilateral percutaneous insertion of a Swan-Ganz catheter in the internal jugular vein for management of pulmonary edema. There were no other neurologic findings nor evidence of mass lesions in the neck or pulmonary apex. This is believed to be the first reported case ...