Pancreatic trauma and rupture are rare after feline high-rise syndrome; however, should it happen, pancreatic enzymes will leak into the abdominal cavity and may cause pancreatic autodigestion and fatty tissue saponification. If not diagnosed and treated, it can ultimately lead to multiorgan failure and death. In this case series, 700 ...

In November 2010, the Ministry of Health of the proposed nation of South Sudan requested CDC assistance in investigating a recent increase and geographic clustering of an illness resulting in head nodding and seizures. The outbreak was suspected to be nodding syndrome, an unexplained neurologic condition characterized by episodes of ...

Aims: To review the evidence on interventions for reversing metabolic syndrome or preventing development of type 2 diabetes and cardiovascular disease in people with metabolic syndrome. Methods: A systematic review and Bayesian mixed treatment comparison meta-analysis was conducted. Relevant electronic bibliographic databases were searched up to January 2010. Included studies ...

PURPOSE: To determine whether metabolic syndrome is associated with accelerated cognitive decline in community-dwelling older adults. METHODS: A longitudinal study of 993 adults (mean 66.8 ± 8.7 years) from the Rancho Bernardo Study. Metabolic syndrome components, defined by 2001 NCEP-ATP III criteria, were measured in 1984-1987. Cognitive function was first ...

Congenital anal web is a rare form of anorectal malformation. In cases of delayed diagnosis, patients can present with signs ranging from mild constipation to complete bowel obstruction. The diagnosis is made by thorough anorectal inspection and a digital rectal exam. We present the case of a 9-month-old boy with ...

Preduodenal portal vein (PDPV) is a rare congenital anomaly. In most patients, it is associated with other congenital defects including situs inversus, malrotation, and biliary atresia or occurs as part of the heterotaxia syndrome or polysplenia syndrome. We describe a newborn affected by high jejunal atresia, malrotation, and a complex ...

We have generated a new mouse model for congenital myasthenic syndromes by inserting the missense mutation L221F into the ε subunit of the acetylcholine receptor by homologous recombination. This mutation has been identified in man to cause a mild form of slow-channel congenital myasthenic syndrome with variable penetrance. In our ...

Congenital fiber-type disproportion is a form of congenital myopathy that may be best viewed as a syndrome rather than as a formal diagnosis. The central histologic abnormality is that type 1 fibers are consistently smaller than type 2 fibers by at least 35%-40%. Care is needed in diagnosing patients, as ...

Carpal coalition is an anomaly that is usually discovered as an incidental finding on roentgenograms. The most common site is between the lunate and the triquetrum, though fusion of almost every combination of carpal bones has been reported. Carpal coalition can be isolated but has also been associated with numerous ...

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder typically presenting in infants with an impaired automatic control of breathing, particularly during sleep, and often associated with variable patterns of autonomic nervous system dysregulations. We studied three children who had CCHS associated with episodes of severe hypoglycemia and hyperinsulinemia; ...

INTRODUCTION: Congenital spinal vertebral anomalies may present with deformity resulting in congenital scoliosis and kyphosis. This leads to abnormal spinal growth. The latter when combined with associated rib fusions may impair normal thoracic cage development and resultant pulmonary hypoplasia. Most congenital scoliosis can be detected in utero by ultrasound scan ...

Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmental delay prior ...

  Congenital circumferential skin folds can be found in individuals with no additional defects, as well as in patients with multiple congenital anomalies and developmental abnormalities. Current data point to etiological heterogeneity of syndromic cases. We describe a 7-month-old girl with a novel combination of symmetrical congenital circumferential skin folds, ...

Cell outgrowth and migration in the developing nervous system result from guidance cues, whose molecular bases and clinical correlates are only partly known. We describe a patient with brain stem malformation, paroxysmal left sided lacrimation when eating ("crocodile tears") and mirror movements in addition to Wildervanck's cervico-oculo-acusticus (COA) syndrome, which ...

Congenital microcephaly with intracranial calcification is a rare condition presented in heterogeneous diseases. Here, we report the case of a 1-year-old boy with severe congenital microcephaly and diffuse calcification. Neuroimaging studies showed a diffuse simplified gyral pattern; a very thin cortex; ventricular dilatation; very small basal ganglia, thalamus, and brainstem; ...

Loss of smell (anosmia) is common in the general population and the frequency increases with age. A much smaller group ( 0.05%) have no memory of ever being able to smell and are classified as having isolated congenital anosmia (ICA). Families are rare, and tend to present in a dominant ...

Chile was the first country in the Americas to conduct surveillance for congenital rubella syndrome (CRS) as part of screening for common causes of congenital birth defects (referred to as TORCH pathogens). The surveillance system identified 15 CRS cases in 1999 and 2 cases in 2000, and it has identified ...

Congenital cataracts, facial dysmorphism, and neuropathy syndrome is a delineated genetic disease exclusively manifested in the Roma population. The pattern of inheritance is autosomal recessive, and a causative mutation is evident in the CTDP1 gene. Affected patients display congenital cataracts, microcornea, peripheral neuropathy, mild facial dysmorphism, hypogonadism, and psychomotor delay. ...

Congenital amegakaryocytic thrombocytopenia (CAMT, MIM #604498) is a rare inherited bone marrow failure syndrome presenting as isolated hypomegakaryocytic thrombocytopenia at birth without other characteristic physical anomalies. Most of the patients develop a severe aplastic anemia and trilineage cytopenia during the first years of life and hematopoietic stem cell transplantation is ...

Patients with congenital Long QT are known to have normal QT interval in symptom-free period and in the early years of life. Precipitating factors like surgical stress, interactions with anesthetic agents prolonging QT interval, and electrolyte imbalances can manifest with life threatening arrhythmias in congenital or acquired Long QT syndrome. ...

A male child of four years is reported with Williams-Beuren Syndrome (WBS). It was not recognized initially when he presented with odd facies and developmental delay since early infancy. The diagnosis was established later when he developed hypertensive encephalopathy secondary to bilateral renal artery stenosis, a congenital anomaly that must ...

ABSTRACT: INTRODUCTION: The complete absence of the chiasm (chiasmal aplasia) is a rare clinical condition. Hypoplasia of the optic nerve and congenital nystagmus are almost invariably associated characteristics. Microphthalmos or anophthalmos are common features in chiasmal aplasia, while central nervous system abnormalities are less frequent. Esophageal atresia can be isolated ...

Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of Clinical Genetics between 1985 and 2010 by perinatologists, (pediatric) neurologists ...

The case of a 26-year-old woman with congenital long QT syndrome and recurrent arrhythmic syncope which had been misdiagnosed as a seizure disorder is presented. Useful criteria for discriminating between loss of consciousness due to congenital long QT syndrome and loss of consciousness caused by seizure activity are discussed. The ...

BACKGROUND AND IMPORTANCE:: Congenital clefts and aplasias of the atlas vertebra are rare. A nonfused posterior arch occurs in 4% of the population; in contrast, a nonfused anterior arch occurs in only 0.1%. To our knowledge, this is the first description of the combination of anterior arch aplasia and a ...

Mirror movements (MM) are involuntary movements of one side of the body that accompany and mirror intentional movements on the opposite side. Physiological MM can occur during normal childhood development, probably owing to corpus callosum immaturity. Pathological congenital MM may be clinically isolated or part of a complex congenital syndrome, ...

Congenital chloride diarrhea is the most frequent secretory-type diarrhea during the infantile period in the presence of normal intestinal mucosa. The disease has an autosomal recessive inheritance. Although approximately half of the reported cases to date are from Finland, a much higher incidence has been reported among Arabic people. The ...

Megalourethra is a rare spectrum of urologic malformations of penile corporal structures frequently associated with multiple congenital anomalies, such as prune belly syndrome or vertebral, anorectal, cardiac, trachea-esophageal, renal, and limb (VACTERL association) defects. A 6-year-old boy with VACTERL association and proximal urethral atresia with distal fusiform megalourethra underwent staged ...

Cor triloculare biventriculare is a rare congenital malformation of the heart in which there is a complete absence of the atrial septum. It is usually associated with other anomalies like complete atrioventricular canal defect, polysplenic syndrome, isolated dextrocardia, Ellis-van Creveld syndrome, or persistent left superior vena cava. We report a ...

Congenital central hypoventilation syndrome (CCHS) is a rare, lifelong condition wherein control of breathing is abnormal and patients present with symptoms of alveolar hypoventilation. The severity of hypoventilation varies and although most patients present in the neonatal period, late onset cases have been reported. In 2003, it was discovered that ...

Patients with genetic disorders associated with multiple congenital anomalies present unique challenges to the anesthesiologist. We report the successful perioperative management of a child with biliary atresia, situs inversus totalis, and Kartegener syndrome scheduled for corrective biliary surgery. We recommend that patients with multiple congenital anomalies need to be thoroughly ...

We describe a case of a patient with Lennox-Gastaut syndrome who had asystole and sinus bradycardia during interictal epileptiform abnormalities on EEG. Video-EEG/EKG monitoring prior to corpus callosotomy recorded consistent prolongation of the R-R interval on the EKG during bursts of epileptiform abnormalities (generalized paroxysmal fast activity), which became transiently ...

Constriction ring syndrome is an uncommon deformity with unknown etiology and multiple manifestations. The most common change occurs at the lower extremities. A complete circular amniotic band syndrome of the trunk is an extremely rare condition. There are less than ten other reported cases in the literature. We present a ...

Ocular abnormal head posture (AHP) or torticollis is a frequent sign in pediatric pathology The incidence is 5.6% in ophthalmological practice and 3.19% in pediatric ophthalmological practice. The abnormal head posture is adopted to improve visual acuity maintain binocular single vision, center residual visual field with the body or for ...

Rubella virus (RV) infection during the first trimester of pregnancy often leads to severe birth defects known as congenital rubella syndrome (CRS). A premature newborn male was clinically diagnosed as CRS with cataracts, congenital heart defects, microcephaly, hepatosplenomegaly, and thrombocytopenia. The infection was confirmed serologically and molecularly. The RV was ...

Summary: Congenital myasthenic syndromes (CMS) are diseases of the neuromuscular junction. They usually belong to the disease groups that begin in the infantile or childhood period and carry genetic characteristics. The following is important in establishing the diagnosis of this disease: clinical findings, electromyography, genetic tests, determination of serum acetylcholine ...

The authors present a case of unilateral eyelid congenital tarsal kink associated with corneal ulcer. The tarsal kink was corrected by a horizontal tarsal incision, performed half the thickness of the tarsus along its entire horizontal extent. Terminal levator aponeurosis fibers were reattached to the tarsal incision line to create ...

Familial follicular cell-derived well-differentiated thyroid cancer, papillary (PTC), and follicular thyroid carcinomas (FTC), accounts for 95% of thyroid malignancies. The majority of are sporadic, and at least 5% of these patients will have familial disease. Familial thyroid syndromes are classified into familial medullary thyroid carcinoma (FMTC), derived from calcitonin-producing C ...

A connection between LEOPARD syndrome (a rare autosomal dominant disorder) and autism spectrum disorders (ASDs) may exist. Of four related individuals (father and three sons) with LEOPARD syndrome, all patients exhibited clinical symptoms consistent with ASDs. Findings included aggressive behavior and impairment of social interaction, communication, and range of interests. ...

Opitz and Kaveggia [Opitz and Kaveggia (1974); Z Kinderheilkd 117:1-18] reported on a family of five affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus, and hypotonia. Risheg et al. [Risheg et al. (2007); Nature Genetics 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with ...

BACKGROUND: The inherited bone marrow failure syndromes (IBMFS) include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome (SDS). Previous studies reported decreased neutrophil chemotaxis in patients with SDS; there are no reports of neutrophil function in other IBMFS. In this study we examined neutrophil respiratory burst function in IBMFS ...

Witkop tooth and nail syndrome is a rare autosomal dominant ectodermal dysplasia manifested by hypodontia and nail dysplasia. Tooth shape may vary, and conical and narrow crowns are common. Mandibular incisors, second molars, and maxillary canines are the most frequently missing teeth. Nail dysplasia affects the fingernails and especially the ...

We report on a-6-months-old girl who manifested the phenotypic features of focal dermal hypoplasia. Significant limb deformities in connection with typical skin changes were documented. The family history had a high frequency of spontaneous abortions and male stillbirths. Male stillbirths are a landmark in favour of X-linked dominant pattern of ...

Well-differentiated thyroid cancer accounts for 95% of thyroid malignancies. In contrast to medullary thyroid carcinoma, in which about 25% are familial, only 5% of follicular cell-derived thyroid carcinomas are a component of a familial cancer syndrome. The familial follicular cell-derived tumors or nonmedullary thyroid carcinoma encompass a heterogeneous group of ...

Lynch syndrome is the most common hereditary colorectal cancer syndrome and the most common cause of hereditary endometrial cancer. Identifying and evaluating families for Lynch syndrome is increasing in complexity due to the recognition that: family history-based clinical criteria lack sensitivity and specificity; genetic testing for Lynch syndrome continues to ...

We report a patient and his family, who have branchio-oto-renal (BOR) syndrome and coexisting mitral valve prolapse. A literature review of BOR syndrome failed to identify any similar families and we report this as a new observation. During the preoperative assessment of a patient with BOR syndrome, tachycardia was noted ...

We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin-6-sulfotransferase) in six subjects diagnosed with recessive Larsen syndrome or humero-spinal dysostosis [Hermanns et al. (2008); Am J Hum Genet 82:1368-1374]. Since then, we have identified 17 additional families with CHST3 mutations and we report here on a series ...

Barth Syndrome (BTHS) is an X-linked multisystem disorder (OMIM 302060) usually diagnosed in infancy and characterized by cardiac problems [dilated cardiomyopathy (DCM) ± endocardial fibroelastosis (EFE) ± left ventricular non-compaction (LVNC)], proximal myopathy, feeding problems, growth retardation, neutropenia, organic aciduria and variable respiratory chain abnormalities. We wished to determine whether ...

Multiple endocrine neoplasia 1 (MEN1) is a hereditary syndrome associated with a number of endocrine and nonendocrine tumors. Unfortunately, a diagnosis of MEN1 often is delayed until after the patient has developed an advanced or second MEN1-related tumor. Nurses need to be familiar with hallmark signs of this syndrome to ...

A 21-year-old adult with previously diagnosed Marfan syndrome (MS) was admitted to our hospital complaining of chest pains that resulted from a complete left spontaneous pneumothorax (SP). A chest roentgenogram showed a 70% pneumothorax on the left side. Because for 8 days chest tube drainage did not ameliorate the air ...