Fragile X syndrome (FXS) is the most common form of inherited mental retardation after Down syndrome. The expansion of a CGG repeat, located in the 5'-untranslated region (5'-UTR) of the FMR1 (fragile X mental retardation) gene, leads to the hypermethylation of the repeat and the upstream CpG island. Methylation is ...

Case report of a 21-year-old man that had concurrence of Brown-Sequard syndrome and Horner's syndrome after a penetrating trauma in the neck. This report analyzes the location of lesions that cause a combination of Horner's and Brown-Sequard syndrome. It is important to know the anatomic structure of spinal cord and ...

STUDY DESIGN: A case report of a complication after posterior spinal fusion. OBJECTIVES: To present the clinical findings of a Horner's syndrome after posterior spinal fusion. SUMMARY OF BACKGROUND DATA: A 14-year-old girl underwent posterior spinal fusion for idiopathic scoliosis. METHODS: Clinical examination and pharmacologic pupillary testing were used to ...

Fragile-X syndrome is the most common single-gene inherited form of mental retardation. Morphological studies suggest a possible failure of the synapse maturation process. Cerebral cortical spine morphology in fragile-X syndrome and in a knockout mouse model of it appears immature, with long, thin spines much more common than the stubby ...

The authors report on what they believe to be the first case of nasopharyngeal carcinoma in a patient with fragile X syndrome. In the literature, a few cases of fragile X syndrome associated with malignancies are described. Although this association seems more than coincidental, the molecular correlation between this syndrome ...

There are few reports in the literature of fat embolism syndrome after cementless total hip arthroplasty (THA). Most reported cases have occurred after fracture or cemented THA. We report a case of a healthy 51-year-old woman who underwent THA for osteoarthritis under spinal anesthesia. A press-fit cup and extensively porous-coated ...

The fragile X syndrome is the most commonly inherited cause of mental retardation. Genetic diagnosis of this disease relies on the detection of triplet repeat expansion in the FMR1 gene on the X chromosome. Although the majority of disease in fragile X patients is due to mutations involving triplet repeat ...

Homer's syndrome, which classically presents as ipsilateral ptosis, meiosis, and facial anhydrosis, may present as a consequence of thoracic epidural analgesia. Pain that limits the patient's ability to maintain adequate pulmonary mechanics may optimally be treated with a thoracic epidural. The importance of recognition of a Horner's syndrome in such ...

Fat embolism syndrome is a dire complication of long bone trauma. It is usually associated with neurological, hematological and respiratory involvement, the latter being the major cause of death. We present a case of severe fat embolism syndrome occurring 3 hours after a long bone injury, leading to permanent vegetative ...

Although syringomyelia has been associated with Horner's syndrome, it is typically associated with other neurological findings such as upper limb weakness or numbness. A patient is described who had an isolated Horner's syndrome as the only manifestation of syringomyelia. A 76 year old woman was discovered to have right upper ...

The development of a phenotypic checklist for identifying people with fragile X syndrome is described. The checklist was designed to identify people with developmental disabilities of unknown causes for molecular genetic testing for fragile X syndrome. The list consists of 28 items (7 on physical characteristics and 21 on behavioral ...

Fragile X-syndrome is the most common inherited cause of mental retardation. The key clinical features of the fragile X-syndrome in males are mental retardation, a long face with large everted ears and large testes. The disorder is associated with a visible fragile site at Xq27.3 at FMR-1 loucs with the ...

BACKGROUND AND PURPOSE: Fragile X syndrome, the most frequent form of inherited mental retardation, is caused by abnormal expansion of the CGG trinucleotide repeats in the 5' untranslated region of the FMR-1 gene. In this study, we describe the prenatal diagnosis of fragile X syndrome and the distribution of CGG ...

BACKGROUND: Fragile X syndrome is the most common cause of inherited mental retardation. Patients with fragile X syndrome show variable mental disability, typical long and narrow facial appearance with large ears and prominent fontanelle and frequent macro-orchidism. It is generally associated with a fragile site at Xq 27.3, which can ...

The prognostic value of concurrent Horner's syndrome in infants with total birth palsy was investigated. The records of 48 cases with total palsy were reviewed. Poor spontaneous return of the motor function of the limb was found for both with and without concurrent Horner's syndrome. Fisher's exact test (P=0.02) indicated ...

Fragile X syndrome is caused by expansion of a d(CGG) trinucleotide repeat sequence in the 5' untranslated region of the first exon of the FMR1 gene. Repeat expansion is thought to be instigated by formation of d(CGG)(n)secondary structures. Stable FMR1 d(CGG)(n)runs in normal individuals consist of 6-52 d(CGG) repeats that ...

An 11-year-old boy admitted with a right cervical mass was found to have Hodgkin disease. On admission, he also had right Homer syndrome and severe cerebellar ataxia. Cranial MRI revealed marked cerebellar atrophy. He was treated with chemotherapy consisting of doxorubicin, bleomycin, vinblastine, and dacarbazine (ABVD), in addition to radiotherapy. ...

Infection with human parvovirus B19 is manifested as erythema infectiosum, transient aplastic crisis, or hydrops fetalis. Rheumatic manifestations include arthropathy and various vasculitic syndromes. Isolated Raynaud's phenomenon due to parvovirus B19 has never been described. We report on 2 previously healthy sisters with new-onset Raynaud's phenomenon accompanied by severe generalized ...

The present paper addresses post mortem pathological and neuropathological findings in two males with fragile-X syndrome, aged 67 and 87 years. Both subjects died from sudden, unexpected cardiovascular causes, and both showed abnormalities of the mitral valve, ventricular hypertrophy and cardiomegaly. Both cases demonstrated macrocephaly characteristic of the classical Martin-Bell ...

Traditionally, stellate ganglion blockade has been used for the diagnosis and treatment of upper extremity sympathetic pain. However, this treatment has not been shown to provide adequate sympathetic blockade of the upper extremities. This study demonstrates that a carefully performed upper thoracic sympathetic block with imaging guidance can result in ...

A 4-year-old boy with coarctation of the aorta underwent surgical aortic arch repair with general anaesthesia and thoracic epidural analgesia. In the immediate postoperative period, the child developed a unilateral Horner syndrome which appeared to be related to the epidural infusion rate. Management of this patient as well as alternate ...

Fragile X syndrome is almost always caused by the absence or deficit of the FMR1 protein (FMRP). Diagnostic methods include polymerase chain reaction and Southern blotting, which are performed on DNA isolated from peripheral leukocytes. Recently, different immunocytochemical tests have been described to identify patients with fragile X syndrome, based ...

The purpose of this review is to increase the awareness of internal carotid artery dissection (ICAD), a potentially serious and probably underdiagnosed condition. ICAD is a not uncommon cause of stroke in young patients. ICAD may occur spontaneously or as a result of trauma. However, the "spontaneous" dissection is often ...

Fragile-X syndrome is the most common genetically inherited cause of intellectual disability. People with this syndrome typically show a behavioural profile of abnormal social interactions which are similar in some ways to those seen in people with autism. The present study investigated whether cognitive processes which have been hypothesized to ...

PURPOSE: The authors report the clinical findings of a unique case of rapid corneal endothelial decompensation in association with acute Horner syndrome. STUDY DESIGN: Case report and literature review. METHODS: The authors followed a 38-year-old woman who developed Horner syndrome after right jugular vein catheterization during cardiac valvular surgery. Shortly ...

Fragile-X syndrome is the commonest cause of inherited intellectual disability. There is good evidence for a behavioural phenotype. This has implications for school staff using standard educational techniques. Similarly, autism is known to create particular educational requirements. The present study examined the awareness and knowledge of fragile-X syndrome, Down's syndrome ...

Absence or deficit of FMR1 protein (FMRP) resulting from methylation of full mutation genes is the fundamental defect in fragile X syndrome. We used FMRP immunocytochemistry and detailed phenotypic assessment to investigate the relationship between degree of FMRP expression and the broad clinical spectrum of impairment in 80 individuals affected ...

Fragile X syndrome is recognized as the most common inherited cause of mental retardation in western countries. The prevalence of the fragile X syndrome in Asian populations is uncertain. We report a multi-institutional collaborative study of molecular screening for the fragile X syndrome from 1,127 Chinese mentally retarded (MR) individuals. ...

Fragile X syndrome is an important disease of hereditary mental retardation. Its prevalence in the Chinese population is not clear. We amplified FMR1 CGG repeats from male newborns' blood spots. Approximately 45% of the males had 28 CGG repeats and another 19% had 29 repeats. Besides this major peak, there ...

Little is known about the mechanism of CGG instability and the time frame of instability early in embryonic development in the fragile X syndrome. Discordant monozygotic twin brothers with the fragile X syndrome could give us insight into the time frame of the instability. We describe monochorionic diamniotic twin brothers ...

Fragile X syndrome is the most common inherited form of mental retardation. The syndrome is associated with a CGG repeat expansion in the 5'UTR of the first exon of the FMR1 gene. This gene maps to Xq27.3 and coincides with the cytogenetic fragile site (FRAXA). The present study deals with ...

OBJECTIVE: To develop a method for the detection of bilateral Horner's syndrome in patients with bilateral interruption of the cervical sympathetic pathway or widespread autonomic neuropathy. METHODS: Darkness pupil diameters and redilatation times during light reflexes have been recorded with infrared TV pupillometry in 65 healthy subjects, 47 patients with ...

PURPOSE: Few studies have investigated the eye and vision dysfunctions of children with the fragile X syndrome. CASE REPORT: We report on a preschool boy with bilateral macular dysplasia and fragile X syndrome. His ocular features and phenotypic and genetic expressions are described. His mentally normal mother was identified as ...

Two independent and complementary studies were conducted to assess the ability of boys with fragile-X syndrome to recognize facial and emotional expressions. Both studies failed to find any specific deficits associated with fragile-X syndrome. The performance of the test group was comparable to the level of subjects with intellectual disability ...

Horner's syndrome as a complication of lumbar epidural anesthesia is a relatively benign and transient condition that usually does not warrant further extensive investigation. Its occurrence is unpredictable, although more frequently associated with epidural anesthesia performed for obstetric conditions. It may indicate high sympathetic blockade, and those patients should be ...

The relationship between the fragile X syndrome (FXS) and autism is reviewed. Shortly after the FXS was first described, it was noted that certain behaviors commonly found in afflicted individuals resemble certain features of autism. Research concerning a possible relationship between these conditions is summarized. The outcome of this research ...

Fragile X syndrome is the most common familial form of mental retardation. This X-linked disorder affects one in every 1000 males and one in every 2000 females. The female carrier rate in the general population is estimated to be 1/600. A fragile site at the distal long arm of the ...

Asymmetrical facial sweating and flushing has been named the "Harlequin Sign". This is a rare feature, as evident from only 12 cases described up to date. The "Harlequin Sign" represents a local autonomic dysfunction due to a cervical sympathetic deficit located at the pre or postganglionic level on the non-flushing ...

The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) gene, the cytogenetic marker (a fragile site at Xq27.3) became replaced by molecular diagnosis. ...

BACKGROUND: Horner's syndrome results from the impairment of the sympathetic nerve supply to the eye and orbit. Other nerve palsies from prolonged unchanged posture are well described, but Horner's syndrome following prolonged lateral flexion has only twice been seen previously and these cases were in association with anaesthesia. METHODS/RESULTS: A ...

In a consecutive series of 274 patients with isolated femoral shaft fractures 11 patients (4%) developed fat embolism syndrome. There were no cases of fat embolism syndrome in patients over the age of 35 years. Of the remaining patients, 60 operated on within 10 h of injury did not develop ...

Fragile X syndrome is the most common form of inherited mental retardation. It is seen in people of all nationalities and in all areas of the world. Fragile X syndrome can be a devastating condition, as many boys are severely retarded and require multiple services. Treatment involves behaviour management techniques, ...

We present two cases of Horner's syndrome occurring following uncomplicated internal jugular venous cannulation. An awareness of this potential complication will reduce confusion over the aetiology of anisocoria in critically ill patients. This consideration is important, since lesions in the central nervous system or carotid dissection following trauma might otherwise ...

STUDY DESIGN: A case report of a clinical observation. OBJECTIVES: To present the clinical findings of an unusual complication of spinal fusion and epidural analgesia. SUMMARY OF BACKGROUND DATA: A 13-year-old girl developed Horner's syndrome after posterior thoracic spinal fusion and epidural analgesia. METHODS: By clinical examination and pupillary pharmacologic ...

We report on a 60-year-old male with AIDS who presented Horner's syndrome that was associated with mononeuritis multiplex due to cytomegalovirus (CMV) infection. This is the first case who presented Homer's syndrome in the course of AIDS. Horner's syndrome associated with mononeuritis multiplex in this patient was the initial manifestation ...

AIMS: To evaluate whether isolated Horner's syndrome presenting in the first year of life warrants investigation. METHODS: Retrospective review of 23 children presenting with Horner's syndrome in the first year of life. RESULTS: In 16 patients (70%) no cause was identified. Birth trauma was the most common identifiable cause (four ...

Molecular diagnosis of fragile X syndrome is usually performed using Southern blot analysis of DNA digested with EcoRI. In the course of diagnostic studies, we observed that a specific EcoRI restriction site in the fragile X gene (FMR1) is sometimes refractory to digestion, generating additional fragments on a Southern blot ...

Twiddler's syndrome is a highly recognized yet rare complication of pacemaker and cardioverter defibrillator (i.c.d.) implantation. We present a case in which persistent generator rotation resulted in lead dislodgment and inappropriate shocks in an initial ICD and recurrent lead fracture in a second ICD system. This case is unusual in ...

The fragile X syndrome, one of the most common forms of inherited mental retardation, is caused by an expansion of a polymorphic CGG repeat upstream of the coding region in the FMR1 gene. The expansion blocks expression of the FMR1 gene due to methylation of the FMR1 promoter. Functional studies ...

BACKGROUND: Sinus node dysfunction is the most common indication for antibradycardiac permanent pacing after heart transplantation. Lack of atrioventricular synchrony during pacing can result in symptoms ranging from mild chest discomfort to severe manifestations such as dyspnea, hypotension, and cardiovascular collapse, all of which are ascribed to pacemaker syndrome. In ...