Context:Hypersecretion of PTHrP is a relatively common cause of malignancy-related hypercalcemia but has only been described in a few cases of neuroendocrine tumors (NET).Objective:The aim of this case report is to describe the clinical syndrome, complex therapeutic interventions, and unusual complications caused by persistent PTHrP hypersecretion in a patient with ...

Stüve-Wiedemann syndrome (SWS) is a severe congenital skeletal dysplasia associated with life threatening dysautonomic manifestations. Newborns affected with this condition exhibit distinctive shortening and bowing of the long bones with reduced bone volume. The majority of affected newborns die early due to neuromuscular complications namely hyperthermia, apnea, and swallowing difficulties. ...

We report a case of Klippel-Trenaunay-Weber syndrome in a 31-year-old woman who presented with hypertrophy of the left leg. She had severe osteoarthritic changes in the left hip joint secondary to the lack of acetabular coverage of the femoral head as the result of lateral inclination of the pelvis owing ...

The Rubinstein-Taybi syndrome is a rare syndrome of congenital disorders whose etiology is still unknown. Most RTS patients have musculoskeletal abnormalities which, if untreated, may significantly affect independent mobility. This paper presents the results of a surgical treatment of a 13-year-old patient with RTS and instability of the patellofemoral joint. ...

Ankle injuries are common occurrences in athletics involving and requiring extreme ranges of motion. Ankle sprains specifically occur with a 1 in 10 000 person rate in active individuals each day. If trauma is repetitive, the ankle structures have potential to experience secondary injury and dysfunction. Included in this category ...

The aim of this study is to evaluate degree and possible major determinants of lower limb disability in joint hypermobility syndrome. Forty patients with joint hypermobility syndrome were studied. Lower limb function was evaluated with the lower limb functional scale (LEFS). Intensity of pain was estimated by the numeric rating ...

Knuckle pads is a syndrome characterized by the presence of multiple nodules located on the extensor side of the interphalangeal or metacarpophalangeal joints. Several conditions can be confused with Knuckle pads. We describe a case of a 47-years-old man who developed multiple bilateral roundish nodules located in the skin over ...

The brainstem is incredibly complex. It contains nuclei, pathways and structures, many with unusual names such as the olives, medial longitudinal fasciculus and the superior and inferior colliculi. The neurological examination can only assess some of them. This article is designed to help make sense of the signs in the ...

Experts agree that coercion by insurance companies or governmental authorities to limit reproductive choice constitutes a eugenic practice. We discuss discrimination against families of children with Down syndrome who chose not to have prenatal testing or chose to continue a pregnancy after a prenatal diagnosis. We argue that this discrimination ...

Abstract: Introduction: Pendred syndrome, a combination of sensorineural deafness, impaired organification of iodide in the thyroid, and goitre, results from biallelic defects in pendrin (encoded by SLC26A4), which transports chloride and iodide in the inner ear and thyroid respectively. More recently pendrin has also been identified in the kidneys, where ...

The purpose of this study was to explore the perspectives of genetic counselors and parents of children with Down syndrome to define essential information for the initial discussion of a new diagnosis. We compared information given in both prenatal and postnatal settings, and also aimed to distinguish differences between the ...

Milwaukee shoulder syndrome or rapid destructive arthritis of the shoulder; is a particular form of arthritis which affects mainly elderly patients, predominantly women, with limited pain and sometimes neuropathic joints, rotator cuff tear, joint instability, mildly inflammatory or noninflammatory, blood-stained effusion, calcium apatite crystals, and marked joint and bone destruction. ...

Metabolic syndrome is one of the most prevalent global health problems that predisposes to Type 2 diabetes. It is strongly linked to insulin resistance, which results in hyperglycemia. Over the past few years, lot of studies have been carried out on Helicobacter pylori infection and found a possible causal relationship ...

  Hypoplastic left heart syndrome is a rare condition requiring major cardiac surgery during the neonatal period to sustain life, with subsequent procedures culminating in completion of the Fontan circulation - the common pathway for all 'single ventricle' conditions. Algorithms for care of these children are now well defined with ...

Down syndrome is associated with a significant health burden, which is particularly apparent in young children who will frequently present with cardiac and respiratory problems. Respiratory presentations include problems related to structural abnormalities of the airways and lungs, glue ears, recurrent lower respiratory tract infections and obstructive sleep apnoea. These ...

Fragile X syndrome (an FMR1-related disorder) is the most commonly inherited form of mental retardation. Early physical recognition is difficult, so boys with developmental delay should be strongly considered for molecular testing. The characteristic adult phenotype usually does not develop until the second decade of life. Girls can also be ...

Anthracyclines are key drugs for the treatment of children with acute lymphoblastic leukemia (ALL). However, anthracyclines are known to induce QT prolongation, and life-threatening complications, such as torsades de pointe may also occur. To date, there have been no reports on the use of anthracyclines in patients with congenital long ...

Legius syndrome is a RAS-MAPK syndrome characterized by pigmentary findings similar to neurofibromatosis type 1 (NF1), but without tumor complications. Learning difficulties and behavioral problems have been reported to be associated with Legius syndrome, but have not been studied systematically. We investigated intelligence and behavior in 15 patients with Legius ...

There is evidence that cortico-striato-thalamo-cortical pathways are involved in the pathophysiology of Tourette syndrome. During the performance of neuropsychological tests in subjects with Tourette syndrome there are suggestions for increased activity in the sensimotor cortex, supplementary motor areas, and frontal cortex. To replicate findings, the authors examined 22 medication-naive children ...

The term pervasive refusal syndrome was first mentioned in a paper detailing a sample study of four children by Bryan Lask and colleagues in 1991. This article presents a sample of four children diagnosed with Pervasive Refusal Syndrome, three girls and a boy, seen within a specialist NHS inpatient unit ...

Nephrotic syndrome is basically a set of signs or symptoms that may point to kidney problems, a condition when large amounts of protein leak out into the urine. In children protein excretion greater than 40 mg/m(2).hr(-1) indicate presence of nephrotic syndrome. Edema is the prominent feature of nephrotic syndrome and ...

We report an overview on early development of children with Dravet syndrome. After a historical outline of literature data, we refer to an Italian multicentric project, partially still in course. Because in the first year of life development seems impaired in Dravet syndrome as studies on precognitive abilities would show, ...

Craniosynostosis (craniostenosis) is premature fusion of the sutures of the cranial vault. Several factors can affect the growth of the cranial vault during embryonic life and after birth, leading to different types of craniosynostosis; these can be classified on the basis of the specific sutures that are fused. Prognosis is ...

The widespread of obesity in childhood is a rising cause of the development of metabolic syndrome, the prevalence of which is clearly increasing. The complexity of the frequent concurrence between metabolic syndrome and type 2 diabetes requires the therapeutic approach to be multidisciplinary and based on the stabilization of glycemia, ...

  Gianotti-Crosti syndrome is an entity characterized by an acute papular eruption in children and has been associated with a multitude of viruses. This is the first case reported in association with type A influenza, a virus that usually has no dermatologic findings.

Aim:  Studying Klinefelter syndrome (47,XXY) can reveal insights into mechanisms of neurodevelopment. Our aim was to identify factors that influence risk for psychopathology in this syndrome, with a focus on age specific and cognitive specific risk profiles. Methods:  73 subjects with Klinefelter syndrome (25 children, 48 adults) and 93 age-matched ...

Children with Autism Spectrum Disorder or Williams syndrome are vulnerable to anxiety. The factors that contribute to this risk remain unclear. This study compared anxiety in autism spectrum disorder and Williams Syndrome and examined the relationship between repetitive behaviours and anxiety. Thirty-four children with autism and twenty children with Williams ...

BACKGROUND:: Rumination syndrome is a condition that occurs when people constantly regurgitate and expel or reswallow food soon after they eat. The most severe cases of rumination syndrome can be debilitating, requiring total parenteral nutrition or enteral tube feedings. We report our experience with the treatment of children with severe ...

Background  The Netherlands are lacking reliable national empirical data in relation to the development of birth prevalence of Down syndrome. Our study aims at assessing valid national live birth prevalence rates for the period 1986-2007. Method  On the basis of the annual child/adult ratio of Down syndrome diagnoses in five ...

Joint hypermobility syndrome (JHS), also known as Ehlers-Danlos III, is an inherited disorder of connective tissue, characterised by an exceptional increase in the joint's mobility and the presence of musculoskeletal and other symptoms. It is a benign syndrome if compared with the other types of Ehlers-Danlos, but it can become ...

Background: In children, renal biopsy is routinely required in the management of idiopathic steroid-resistant nephrotic syndrome particularly prior to starting nephrotoxic immunosuppressive agents. Aim: To investigate the correlations between the results of initial renal biopsy in Tunisian children with idiopathic steroid-resistant nephrotic syndrome and the subsequent response to cyclosporineprednisolone combination. ...

The pathogenesis of symptoms in irritable bowel syndrome (IBS) is multifactorial and varies from patient to patient. Disturbances of motor function in the small intestine and colon and smooth-muscle dysfunction in other gut and extraintestinal regions are prominent. Abnormalities of sensory function in visceral and somatic structures are detected in ...

Antiphospholipid syndrome is characterized by recurrent arterial or venous thrombosis at any level of the vascular tree and the presence of circulating antiphospholipid antibodies. The syndrome may be idiopathic or secondary to an underlying autoimmune disorder. The disease is uncommon in children, and manifestations are diverse and underreported. We report ...

Background  The current study focuses on mothers and fathers of children with three rare genetic syndromes that are relatively unexplored in terms of family experience: Angelman syndrome, Cornelia de Lange syndrome and Cri du Chat syndrome. Method  Parents of children with Angelman syndrome (n = 15), Cornelia de Lange syndrome (n = 16) and ...

PURPOSE: There are some reports of so-called Alice-in-Wonderland syndrome mostly concerning differential diagnosis, association with a variety of infectious diseases and even some case reports on functional imaging. Long-term data are rare. METHODS: Nine boys aged 6 to 11 years that had been diagnosed with Alice-in-Wonderland syndrome between 2003 and 2008 ...

Depression is associated with the development of the metabolic syndrome, and both depression and metabolic syndrome are associated with markers of systemic inflammation, such as C-reactive protein (CRP). We examined associations between affective status in adolescence and adulthood, and the metabolic syndrome at age 53 years in a large representative ...

Normally, one inherits one chromosome of each pair from one parent and the second chromosome from the other parent. Uniparental disomy (UPD) describes the inheritance of both homologues of a chromosome pair from the same parent. The biological basis of UPD syndromes is disturbed genomic imprinting. The consequences of UPD ...

This is a retrospective review of the clinico-radiological features and neurological outcomes of reversible posterior leukoencephalopathy syndrome episodes in Chinese cancer children receiving chemotherapy in a regional hospital in Hong Kong from 1998 to 2008. Five children (3 males and 2 females) with a mean age of 7 years were ...

Guillain-Barré syndrome and acute myelitis represent common and very rare etiologies of acute limb weakness in children, respectively. Typically, demyelination is most common, limited to either the central or peripheral nervous system. Concurrent acute myelitis and Guillain-Barré syndrome are seldom reported. We retrospectively reviewed cases of Guillain-Barré syndrome in Chang ...

Carpal tunnel syndrome is uncommon in children and is associated with an underlying etiology in the majority of cases. The diagnosis of the condition in childhood is dependent on a high degree of clinical suspicion, careful clinical examination, and judicious use of confirmatory investigations. The authors report a novel cause ...

The research literature notes both biological and operant theories of behavior disorder in individuals with intellectual disabilities. These two theories of genetic predisposition and operant reinforcement remain quite distinct; neither theory on its own is sufficient to explain challenging behavior in genetic syndromes and an integrated approach is required. This ...

Abstract Background: Body-mass index (BMI), waist circumference (WC), and, recently, waist-to-height ratio (WHtR) have been proposed as clinical indexes to identify children at cardiometabolic risk. The aim was to identify the usefulness of WHtR cutoffs, WC, and BMI as predictors of metabolic syndrome in Mexican children, according to BMI z-scores, ...

Williams-Beuren syndrome (WBS) is a genetically determined neurodevelopmental disorder caused by a heterozygous deletion of 26-28 genes on chromosome band 7q11.23. During the past few years, researchers and clinicians have significantly contributed to define the phenotype of the syndrome, including its cognitive and behavioral aspects. However, it is not well ...

The term cancer predisposition syndrome (CPS) encompasses a multitude of familial cancers in which a clear mode of inheritance can be established, although a specific gene defect has not been described in all cases. Advances in genetics and the development of new imaging techniques have led to better understanding and ...

Abstract Fragile X syndrome is the most common inherited cause of intellectual and developmental disability. The influence of environmental variables on behaviors associated with the syndrome has received only scant attention. The current study explored the function served by problem behavior in fragile X syndrome by using experimental functional analysis ...

To understand relationships and survival implications between structural heart disease and hypertrophic cardiomyopathy in Noonan syndrome (Noonan syndrome-HCM), we reviewed the clinical course of 138 children with Noonan syndrome diagnosed with cardiovascular abnormalities and compared survival with the 30 children with Noonan syndrome-HCM with 120 contemporaneous children with nonsyndromic HCM. ...

Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1:4000 births, and the incidence is increasing due to affected parents bearing their own affected children. The manifestations of this syndrome cross all medical specialties, and care of the children ...

Gluteal compartment syndrome as a result of hematoma from a ruptured superior gluteal artery is exceedingly rare; to date, one similar case in a pelvic fracture model has been reported. We report a case of acute gluteal compartment syndrome from a ruptured superior gluteal artery resulting from a simple posterior ...

Mucopolysaccharidosis IVA (MPS IVA: Morquio A syndrome) is a lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Patients with MPS IVA appear healthy at birth. Morquio-specific radiographic changes can be observed prior to clinical signs and symptoms. Patients are usually affected by a severe joint degeneration from the ...

This set of guidelines was designed to assist the pediatrician in caring for children with Prader-Willi syndrome diagnosed by clinical features and confirmed by molecular testing. Prader-Willi syndrome provides an excellent example of how early diagnosis and management can improve the long-term outcome for some genetic disorders.