Herpes zoster ophthalmicus is a disease in which the varicella-zoster virus replicates and produces inflammation in the skin of the face supplied by the sensory branches of the ophthalmic division of the trigeminal nerve. It can also cause a conjunctivitis, keratitis, uveitis, extraocular muscle paralysis, and acute retinal necrosis. We ...

A case of Horner's syndrome following a thyroidectomy for a benign multinodular goiter is presented, the literature reviewed, and possible explanations are discussed. Theories to explain this phenomenon include: local trauma to the sympathetic chain during retraction of the carotid sheath, anatomical variations which leave a patient susceptible to damage ...

Fragile X syndrome is the most common form of familial mental retardation (one in 1250 males and one in 2500 females, characterized by prominent dysmorphic features, macro-orchidism, and varying degrees of mental retardation. Diagnosis of this syndrome has relied on cytogenetic demonstration of the fragile site at position Xq27.3. A ...

The recent identification of an abnormally amplified trinucleotide (cytosine guanine guanine) repeat in the fragile X gene (FMR-1) of males with fragile X syndrome and their carrier mothers allows the study of the mutation in individuals at risk. In this report, data on 396 patients and 35 normal controls are ...

Dermis-fat grafts were performed on 7 patients at the time of parotidectomy to prevent Frey's syndrome and the characteristic concave deformity. Only 1 patient demonstrated postoperative Frey's syndrome, and 1 demonstrated a slightly concave deformity due to fat absorption. Although other barrier materials have been reported to achieve success in ...

A special subphenotype of the fragile X syndrome is reported which is characterised by extreme obesity with a full, round face, small, broad hands/feet, and regional skin hyperpigmentation. It resembles the Prader-Willi syndrome (PWS) and might therefore be named 'Prader-Willi-like'. Unlike the PWS, these PW-like fragile X patients lack the ...

Two clinically asymptomatic cases of cardiac pacemaker twist or Twiddler's syndrome are presented. These examples illustrate that not all cases of pacemaker twist are symptomatic and need intervention. Both patients had unipolar pacemaker systems inserted for second degree heart block and sick sinus syndrome, respectively. The diagnosis of pacemaker twist ...

A questionnaire to assess awareness and knowledge of various syndromes was mailed to a random sample of elementary special education teachers in Colorado. Approximately half of the questionnaires were completed and returned. Results indicate that significantly more respondents had knowledge of Down syndrome than of fetal alcohol or fragile X ...

Fragile X syndrome is one of the most common human genetic diseases and the most common cause of hereditary mental retardation. The gene that causes fragile X syndrome, FMR1, was recently identified and sequenced and found to encode a putative protein of unknown function. Here we report that FMR1 contains ...

The fragile X syndrome is a common X-linked mental retardation and autism, affecting females as well as males. The fragile site X chromosomes were studied in a series of 153 mentally retarded boys of unknown etiology to determine the frequency of fragile X syndrome, and to assess the feasibility of ...

Since the discovery of the Fragile X syndrome some 20 years ago, there have been numerous articles concerning clinical features, cognitive profile and transmission. It is a syndrome of importance to all those working in the mental health field and those involved in community health, such as General Practitioners, since ...

Direct DNA analysis of the fragile X mutation has become available with the isolation of DNA probes that detect the unstable DNA sequence containing the CGG repeat. We present the various alternatives of combinations of probes and enzymes that can be used for the diagnosis of fragile X syndrome. An ...

We describe a patient with a Raeder's paratrigeminal neuralgia consisting of left-sided frontal and orbital pain, Horner syndrome (including anhydrosis of the forehead), and sensory loss in the territory of the first division of the trigeminal nerve. The involvement of the ophthalmic nerve is not consistent with the usual localization ...

The recent literature concerning Raynaud's syndrome is reviewed. Raynaud's syndrome is as common as hypertension and diabetes. In spite of its generally benign character, it causes a lot of discomfort to individuals and sickness absenteeism to society, especially in the colder regions of the world. The etiology remains an enigma ...

BACKGROUND AND OBJECTIVES. Stellate ganglion block is a technically simple procedure but is liable to many complications because of the adjacent structures. We report a contralateral and bilateral Horner's syndrome with stellate ganglion block in the same patient on different occasions. We also report a bilateral recurrent laryngeal nerve block ...

Electron microscopy was performed on the irides of a man with a history of a long standing Horner's syndrome which resulted in iris heterochromia. Comparison of his normal brown iris with the depigmented blue iris showed depletion of anterior border cells and absence of sympathetic nerve fibres. Stromal melanocyte numbers ...

Fat embolism syndrome is a relatively common complication of orthopedic trauma. Once thought to be rare in children, it probably occurs with a similar frequency as in adults, but is often subclinical. Clinically apparent fat embolism syndrome may exhibit neurologic, pulmonary, and cutaneous manifestations. It often resolves without sequelae if ...

The authors report the case of a 16-year-old female who presented with a left tension pneumothorax and a left Horner's syndrome. Chest tube thoracostomy performed to relieve the tension pneumothorax also resulted in the immediate resolution of the patient's ptosis and miosis. The probable mechanism for the patient's focal neurologic ...

We describe a patient with typical clinical features of the fragile X syndrome, but without cytogenetic expression of the fragile X or an amplified CCG trinucleotide repeat fragment. The patient has a previously uncharacterized submicroscopic deletion encompassing the CCG repeat, the entire FMR1 gene and about 2.5 megabases of flanking ...

The timing of late replicating bands on the X chromosome has been studied in individuals with the fragile X [fra(X)] syndrome. Compared to controls both affected individuals and symptomless carriers of the syndrome show delayed replication of the Xq27 region as shown by 2 different methods. The implications of this ...

Although oculosympathetic lesions were described in the early 18th century in animal experiments, detailed description in humans, with the well-known triad of miosis, ptosis and enophthalmos comprising Horner's syndrome, is accredited to the Swiss ophthalmologist Friedrich Horner (1831-1886). This paper briefly reviews the symptoms and localization of the lesion with ...

Sympathetic denervation of the eye [Horner's Syndrome (HS)] usually presents as ptosis, miosis, and facial anhydrosis. HS presents a challenge to the clinician because the causative lesion may involve a first, second, or third-order neuron. This paper reviews the literature regarding HS, the anatomy of the sympathetic pathway to the ...

Standards (95th, 50th, and 5th percentiles) in fragile X syndrome for weight, height, head circumference, ear length, and testicular volume are reported. For comparison with fragile X syndrome standardized curves, normal control data from the literature were similarly plotted and curves produced. These standards reflect the physical parameters that are ...

A 7-year-old boy developed a Horner's syndrome after falling on a stick that penetrated his peritonsillar soft palate. He did not suffer from any major vascular injury, and pharmacologic testing indicated a preganglionic lesion. We review previously reported cases of oculosympathetic paresis caused by surgical and nonsurgical intra-oral trauma. Because ...

The fragile site at Xq27.3 is an unstable microsatellite repeat, p(CCG)n. In fragile-X syndrome pedigrees, this sequence exhibits variable amplification, the length of which correlates with fragile-site expression. There is a direct relationship between increased p(CCG)n copy number and propensity for instability: individuals having large amplifications exhibit somatic variation due ...

A new fragile site (FRAXE) in Xq28 is described. It appears to be a typical folate sensitive fragile site. The fragile site is not associated with mental retardation, it does not give abnormal results when subjected to Southern analysis with probe pfxa3 which detects the unstable DNA sequence characteristic of ...

Pancoast syndrome, which comprises a lower brachial plexus lesion and Horner's syndrome, usually results from local invasion beyond the confines of the lung by an apical lung carcinoma. Other causes are rare. We report the unusual occurrence of a case of Pancoast syndrome caused by a destructive sclerosing fibrosis after ...

A 66 year old man was admitted with a left Horner's syndrome, and trismus due to tetanus. Three days later he had respiratory arrests, classical tetanic spasms and was ventilated. He had associated severe autonomic dysfunction, tachyarrhythmias, hypotension, sweating and constipation. There was complete resolution of the left Horner's syndrome ...

Congenital Horner's syndrome is an infrequent illness caused by a lesion of the cervical sympathetic nerve fiber. It's clinical features are facial anhidrosis, ptosis, miosis, and hypochromia iridis of the affected side. The subject of this report, a full-term male newborn, had had a smooth birth process but was found ...

A Dutch family is reported with congenital Horner's syndrome in five cases spanning five generations, with symptoms of varying degree but mainly ptosis and meiosis. Heterochromia iridium, anhidrosis, and enophthalmos were not present. The site of the lesion may be in the region between Gasser's ganglion and the short vertical ...

PURPOSE: To assess the usefulness of MR in the evaluation of patients with Horner's syndrome. PATIENTS AND METHODS: We prospectively performed MR imaging in 33 patients with Horner's syndrome (13 preganglionic and 20 postganglionic) using a protocol specifically designed for pre- and postganglionic varieties of this syndrome. Assignment of patients ...

Horner's syndrome may be due to a variety of serious underlying disorders including cervical neuroblastoma. Horner's syndrome results from a unilateral disruption of the sympathetic innervation to the head and neck. We report a patient with cervical neuroblastoma in whom post operative metaiodobenzylguanidine (MIBG) scans showed a striking decrease in ...

The subject of fat embolism is of recurring interest to those managing trauma. This article covers the topic of fat embolism in general, and presents a case of fulminant fat embolism syndrome which highlights the importance of clinical expertise, and whatever technological aids are available to diagnose and appropriately treat ...

Sympathetic skin response from the forehead and from the hand obtained by using electric, acoustic stimuli and during deep breathing was recorded in normal subjects and in patients suffering from Horner's syndrome in order to characterize this clinical picture neurophysiologically. The reliability of the method points to its possible usefulness ...

We report the case of a 55 year old man who presented as Pancoast's syndrome associated with a left sided Horner's syndrome, a mass in the left supraclavicular fossa and marked weakness with wasting of the left arm consistent with a left sided brachial plexus lesion. Biopsy revealed the typical ...

The conversational skills of 18 individuals with fragile-X syndrome (FXS) were compared with those of two other matched groups with autism and Down syndrome. The FXS group used more eliciting forms in conversation than those with Down syndrome, and also used partial self-repetition more often than the other two groups. ...

Median corpuscular fragility of erythrocytes does not differ significantly between fed and fasted Bolivian and Brazilian squirrel monkeys and are similar to values reported in humans and rhesus monkeys. This report further confirms that the fasting hyperbilirubinemia present only in Bolivian squirrel monkeys with a Gilbert-like syndrome is not due ...

The pacemaker syndrome refers to symptoms and signs in the pacemaker patient caused by inadequate timing of atrial and ventricular contractions. The lack of normal atrioventricular synchrony may result in decreased cardiac output and venous "cannon A waves." A sudden increase in atrial pressure at the onset of asynchrony may ...

We report a case of Horner's syndrome due to ipsilateral posterior hypothalamic infarction, occurring in the absence of other signs of hypothalamic dysfunction. Associated symptoms of contralateral faciobrachial weakness and dysarthria correlated with the extension of the infarct into the posterior limb of the internal capsule seen by magnetic resonance ...

Percutaneous cannulation of the internal jugular vein is a widely used and accepted method for central venous cannulation, used for parenteral alimentation, fluid administration, and measurement of pressures. A multitude of complications associated with this procedure have been described. Horner syndrome as a rare complication of internal jugular vein cannulation ...

We report on linkage data between DXS105, DXS98, the locus for the fragile X syndrome (FRAXA), and 3 other polymorphic loci that flank the FRAXA locus. An analysis was undertaken to determine the relative positions of DXS105 and DXS98 and to test the assignment of DXS105 to a location proximal ...

The occurrence and specificity of posterior fossa abnormalities as measured from magnetic resonance images of the brain were investigated in a group of 14 males with fragile X syndrome and comparison groups consisting of 17 males with other causes of developmental disability and 18 males with normal IQs. The size ...

A clinical case of Horner's syndrome is described in a Standardbred horse, and the various symptoms of cranial sympathetic denervation are studied in two ponies after experimental transection of the left cervical sympathetic trunk and vagosympathetic trunk, respectively. The most prominent symptoms of equine Horner's syndrome were ptosis, local sweating ...

We present a case of a 47-year-old female who was followed for 7 months with complaints of musculoskeletal pain involving the shoulder and scapula until she presented to the emergency department with Horner's syndrome and was diagnosed as having a superior pulmonary sulcus tumor. A review of the literature shows ...

A 12-year-old kitten was found to have bone fragility. Previously described causes of bone fragility in domestic cats were excluded on the basis of serum biochemical profile and radiographic histologic examinations. The findings in this kitten correlated most closely with osteogenesis imperfecta, a syndrome documented in human beings and cattle.

A simple heuristic is proposed for drawing a warranted inference that a causal relationship does not exist between two events. It is illustrated by a study of the putative indirect causal relationship between Autistic Disorder and the Fragile X syndrome. This study was designed to ensure that a failure to ...

A young woman with a history of sick sinus syndrome and placement of a permanent pacemaker 6 months before admission had fever and Haemophilus parainfluenzae bacteremia. A gallium scan localized the infection to the site of the pacemaker wire. Echocardiograms were negative for any vegetations. The patient responded to cefotaxime ...

The lateral medullary syndrome is a rare syndrome resulting from a cerebrovascular accident involving part of the medulla oblongata with consequent loss of pain and temperature sensation in the orofacial region, loss of taste, and palatal palsy and loss of gag reflex, together with Horner's syndrome and ataxia. A case ...

We evaluated the effectiveness of the cocaine test for diagnosing Horner's syndrome. The test was administered to 119 patients with a diagnosis of Horner's syndrome and to 50 normal subjects. We compared the cocaine-induced anisocoria in the two groups by measuring photographs of the pupils. We found the cocaine test ...

Pacemaker twiddler's syndrome is the phenomenon whereby a pacemaker patient may actively dislodge a pacing electrode by manipulating, often unconsciously, the permanent implanted pacemaker. This unusual case is remarkable in several respects: surgical precautions, originally taken to secure the pulse generator against migration, proved ineffective; the displaced lead featured an ...