Lambert-Eaton myasthenic syndrome (LEMS) is a neuromuscular autoimmune disease that has served as a model for autoimmunity and tumour immunology. In LEMS, the characteristic muscle weakness is thought to be caused by pathogenic autoantibodies directed against voltage-gated calcium channels (VGCC) present on the presynaptic nerve terminal. Half of patients with ...

We report a rare example of anaemia and hypertension due to an incomplete Carney triad in a 14-year-old girl with no previous medical history. This rare non-familial syndrome generally involves two disparate tumours: gastrointestinal stromal tumour, paraganglioma and/or pulmonary chondroma. The complete triad is a syndrome that involves at least ...

Neuroendocrine tumours (NETs) are a genetically diverse group of malignancies that sometimes produce peptides causing characteristic hormonal syndromes. NETs can be clinically symptomatic (functioning) or silent (non-functioning); both types frequently synthesise more than one peptide, although often these are not associated with specific syndromes. Based on data from various sources, ...

An 80-year-old male patient presented with abdominal pain, paroxysmal diaphoresis, diarrhoea and vomiting. CT scan revealed a small bowel endocrine carcinoma (or 'carcinoid' tumour), but the absence of hepatic disease. The lesion was excised 'en-bloc'. Intra-operatively, there was wide fluctuation in blood pressure associated with tumour manipulation, with hyper- and ...

Brugada syndrome is a channelopathy characterised electrocardiographically by distinctive coved ST-segment elevation in the right precordial leads and is associated with a predisposition for sudden death secondary to ventricular arrhythmias in otherwise healthy patients. Previously known as Brugada-like patterns, Brugada phenocopies include agents and conditions that mimic true Brugada syndrome, ...

INTRODUCTION: Peutz-Jeghers syndrome (PJS) is a familial polyposis syndrome characterized by multiple hamartomatous polyps throughout the gastrointestinal tract. The aim of our study was to retrospectively determine the diagnostic value of MR enterography (MRE), performed in supine and prone position, in the detection of small bowel polyps in PJ patients. ...

A new syndrome of the major form of hyperekplexia with neonatal onset is described. An infant manifested multisystem involvement with ectodermal anomalies, including lymphedema and double eyelashes (lymphedema-distichiasis syndrome), genitourinary anomalies, and skeletal dysplasia. Despite extensive genetic evaluation, no cytogenetic or molecular etiologies were identified. The literature was reviewed to ...

Oral Diseases (2011) Objective:  To explore the risk factors of non-syndromic orofacial clefts. Subjects and Methods:  A case-control study was conducted in China, 537 infants born with non-syndromic cleft lip with/without cleft palate, 176 infants born with cleft palate (CP), and 221 normal controls were recruited to participate in a ...

Recent studies suggest that the electrocardiographic (ECG) finding of J-point ST-elevation, the early repolarization syndrome, is not as benign as earlier believed. Three important articles published in 2008/2009 suggest that this finding in the inferolateral leads of the ECG may be representing a risk for subsequent ventricular fibrillation. Although these ...

Pseudo-Bartter's (PB) syndrome characterized by hypokalemic metabolic alkalosis and persistent failure to thrive constitutes a rare typical presentation of cystic fibrosis (CF) with prevalence of 16.8%. We present a case of CF presenting with failure to thrive, dehydration, PB syndrome associated with chest infection and primo-colonization with Pseudomonas aeruginosa. Sweat ...

Long QT syndrome is a well-described entity in infants. Its presentation in the context of congenital heart disease is rare and is almost exclusively diagnosed postoperatively. For patients undergoing surgical intervention, preoperative knowledge of the diagnosis and appropriate perioperative management can be life-saving. We present the rare case of an ...

We report two infants who underwent right pneumonectomy in infancy and developed postpneumonectomy syndrome with obstruction of the left main bronchus causing severe airway obstruction in one patient and gastrointestinal reflux due to a displaced and grossly dilated oesophagus in the other patient. Both patients were operated with implantation of ...

Jeune syndrome or Asphyxiating Thoracic Dystrophy presenting clinically with hepatic manifestations is rarely seen. Very few cases of liver involvement have been reported antemortem. The authors report a three-month-old child with Jeune syndrome who presented with prolonged neonatal cholestasis and normal stools.

The main histopathological features in the cutaneous lesions of Churg-Strauss syndrome (CSS) are dermal leukocytoclastic vasculitis with a variable eosinophilic infiltrate and non-vasculitic tissue eosinophilia with granuloma formation. This wide histopathological spectrum may account for the various skin manifestations of CSS. However, the unique histopathological combination of dermal eosinophilic vasculitis ...

Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects monozygotic twins concordantly. Thyroid hypoplasia (TH) is a common cause of congenital hypothyroidism (CH) and often accompanies dysmorphic syndromes. A pair of female twins were admitted to our neonatology ...

Thiamine-responsive megaloblastic anaemia (TRMA; OMIM 249270) syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anaemia, and sensorineural deafness. Progressive hearing loss is one of the cardinal findings of the syndrome and is known to be irreversible. Whether the deafness in TRMA syndrome can be prevented is not ...

Cardiovascular abnormalities are important features of Costello syndrome and other Ras/MAPK pathway syndromes ("RASopathies"). We conducted clinical, pathological and molecular analyses of 146 patients with an HRAS mutation including 61 enrolled in an ongoing longitudinal study and 85 from the literature. In our study, the most common (84%) HRAS mutation ...

OBJECTIVE: To identify the proportion of major structural noncardiac anomalies identified with congenital heart defects (CHDs). STUDY DESIGN: Records of infants with CHDs in the Metropolitan Atlanta Congenital Defects Program who were born during the period 1968 through 2005 were classified as having isolated, syndromic, multiple CHD (ie, having an ...

Atypical hemolytic uremic syndrome (aHUS) is a rare form of complement dysregulation disease, and recently various reports have shown that it is associated with one or more mutations in the complement regulatory genes including complement factor H (CFH). Plasma exchange is a therapeutic option for adult patients, but not for ...

Aim:  To review the evidence base for providing testosterone therapy in the infant and prepubertal child with Klinefelter syndrome(KS). Methods:  Major databases were searched to identify articles that addressed the role of testosterone in the development of the male fetus with and without Klinefelter syndrome, and that characterized testicular function ...

Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is an extremely rare disorder with variable symptoms. Recent studies described that congenital central hypoventilation syndrome had deep relation to the mutation of the PHOX2B gene in its diagnosis and phenotype. We report a newborn male infant with ...

INTRODUCTION: Congenital diaphragmatic hernia (CDH) is a congenital malformation that has a reported incidence ranging from 2.4 to 4.1 in 10,000 births. Despite advances in neonatal care, a mortality rate of 33% is still reported with isolated CDH, predominantly due to hypoxic respiratory failure secondary to pulmonary hypoplasia. Fryns syndrome ...

West syndrome is a rare epileptic disease of infancy, typified by an association of characteristic spasms, hypsarrhythmia on electroencephalography and severe psychomotor retardation or deterioration. Adrenocorticotropic hormone (ACTH) is the current first-line therapy for West syndrome despite the fact that ACTH therapy is associated with various adverse effects. We describe ...

Potocki-Lupski syndrome (PTLS) is a recently described microduplication syndrome associated with duplication 17p11.2, including the RAI1 gene. Features of PTLS include hypotonia, feeding difficulties, failure to thrive, developmental delay and behavioral abnormalities including autistic spectrum disorder, anxiety, and inattention. Cardiovascular anomalies were not recognized as a feature of duplication 17p11.2 ...

Potocki-Lupski syndrome (PTLS) is a recently described microduplication syndrome associated with duplication 17p11.2, including the RAI1 gene. Features of PTLS include hypotonia, feeding difficulties, failure to thrive, developmental delay and behavioral abnormalities including autistic spectrum disorder, anxiety, and inattention. Cardiovascular anomalies were not recognized as a feature of duplication 17p11.2 ...

Churg–Strauss syndrome (CSS) is a systemic vasculitis occurring in patients with a history of asthma. Wells' syndrome (WS) is a rare inflammatory dermatosis that clinically resembles cellulitis, and is histologically characterized by eosinophilic infiltration and flame figures. We report a case of WS associated with CSS. There have been three ...

We present a case of extensive gastric heterotopia involving the small intestine associated with congenital short bowel syndrome and malrotation. The infant showed a normal mesenteric artery, without signs of "apple peel" deformity. Gastric heterotopia extended from the duodenum to the mid-ileum involving the short bowel. Gastric mucosa heterotopia may ...

Congenital intrahepatic arterioportal fistula is a rare entity that most often presents with symptoms of portal hypertension and malabsorption. We discuss a patient who presented with distributive shock, congestive heart failure, pulmonary hypertension, ascites, and a history of severe constipation.

Lambert-Eaton Myasthenic Syndrome (LEMS) is a rare disease with a well-characterized pathogenesis. In 50% of the patients, LEMS is a paraneoplastic manifestation and caused by a small cell lung carcinoma (SCLC). Both LEMS patients with SCLC and those without this tumour have in 85% of cases pathogenetic antibodies of very ...

Wernicke's encephalopathy is a rare cause of maternal death. It is a difficult diagnosis to make but prevention and treatment is straightforward. Severe thiamine deficiency causes Wernicke-Korsakoff syndrome. Correct diagnosis and treatment with thiamine will decrease the case fatality rate.

Carcinoid tumours are uncommon and carcinoid syndrome is likely to be encountered only occasionally during a clinical career outside the Neuro-endocrine and related specialties. Two cases of carcinoid syndrome are described in Royal Naval Reserve (RNR) personnel presenting simultaneously in the same unit. Both had long histories and, despite early ...

Muenke syndrome is a fibroblast growth factor receptor 3 (FGFR-3)-associated coronal craniosynostosis syndrome, which was first described in 1997. We report an infant girl who was born to a 29-year-old primapara at 38 weeks' gestation. When evaluated at 3 days old, physical examination revealed a high forehead with frontal bossing, ...

Common atrioventricular canal (CAVC) is a common congenital heart lesion resulting from a defect in development of the endocardial cushions during early embryogenesis. Depending on the type of defect, CAVC can encompass a spectrum of lesions ranging from partial atrioventricular (AV) canal to complete AV canal. We describe a case ...

Gastric perforation is a potentially fatal condition that is rare in infants and children. Most case reports in the pediatric population are of neonates or in patients with various associated risk factors including prematurity, ischemia, trauma, or ulcers. Heterotaxy syndrome is characterized by abnormal symmetry and malposition of the thoracoabdominal ...

We report one case of a fetus of sirenomelia sequence with Potters syndrome which showed oligohydramnios and symelia apus. The infant showed absent urinary tract and external genitalia, the legs were fused by skin and had separate bones associated with Potter's syndrome. The mother had a history of gestational diabetes ...

Although there are clinical data suggesting a direct relationship between neonatal nephrotic syndrome and placental transfer of proinflammatory cytokines from mothers with HELLP syndrome, there is no direct evidence that these inflammatory cytokines are pathogenic. Here, the first human model of placental transfer of proinflammatory cytokines from a mother with ...

A female newborn presented with a congenital urticarial rash that consisted of fluctuating well-demarcated pink or pale reddish macules or slightly raised papules and plaques. In addition, purulent cerebrospinal fluid was present in the absence of evidence of congenital infection. Skin biopsy revealed a sparse infiltrate throughout the entire dermis, ...

Churg-Strauss syndrome is a rare diffuse small/medium sized vessel vasculitis that is almost invariably accompanied by severe asthma. The cause is unknown, but its characteristic histological findings and association with asthma distinguish it from other vasculitides. We report here a middle aged lady who presented with sudden onset of vasculitic ...

We report a case of Kasabach-Merritt syndrome arising from a tufted angioma successfully treated with systemic corticosteroid. A 2-month-old male infant presented with a palm-sized, erythematous induration on his left pubis. The lesion was diagnosed as tufted angioma histopathologically. After 1 month, the lesion suddenly expanded to the abdomen and ...

The aim of this study was to investigate the value of technetium etifenin injection (99mTc-EHIDA) hepatobiliary scintigraphy in combination with determination of bilirubin from duodenal drainage in differential diagnosis between infantile hepatitis syndrome and biliary atresia. 99mTc-EHIDA hepatobiliary scintigraphy in combination with duodenal fluid examination was used for evaluation in ...

We report a case of Churg-Strauss syndrome coexistent with coronary vasospasm and pauci-immune necrotizing crescentic glomerulonephritis. A 54-year-old man with bronchial asthma and allergic rhinitis was admitted to our hospital because of acute coronary syndrome. Angiography showed diffuse coronary artery spasm without anatomic stenosis. Acute coronary syndrome due to vasospasm ...

A 45-year-old white woman presented with fever, arthalgias, and widespread erythematous papules after a recent Parvovirus B19 infection. Biopsy findings were consistent with classic Sweet syndrome. A splenectomy, which was performed due to radiographic evidence of multiple splenic lesions, revealed a diffuse neutrophil-predominant infiltrate with formation of numerous "abcesses." Her ...

Drug rash, eosinophilia, and systemic symptoms syndrome is a type of drug hypersensitivity reaction characterized by the clinical triad of skin eruption, fever, and internal organ involvement. Drug rash, eosinophilia, and systemic symptoms syndrome has rarely been reported in association with vancomycin or in the pediatric population. There have only ...

There are many cause of cholinesterase deficiency, including drugs, liver disease, chronic anemia, malignant states, cardiac failure, severe acute infection, surgical shock, severe burn, collagen disease and vasculitis syndromes. Vasculitis syndromes are relatively rare, and among them, Churg-Strauss syndrome (CSS) is even rarer. We report here on a case of ...

Markedly increased blood eosinophilia (ie, > or =1.5 x 10(9)/L), whether discovered fortuitously or found with signs and symptoms of associated organ involvement, commands diagnostic evaluation and often therapeutic interventions. This degree of hypereosinophilia is often but not uniformly associated with eosinophilic infiltration of tissues that can potentially lead to ...

DRESS-syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a severe drug-induced hypersensitivity syndrome characterized by diffuse maculopapular rash, lymphadenopathy, multivisceral involvement, eosinophilia and atypical lymphocytes with a mortality rate of 10-40% (Seminars in Cutaneous Medicine and Surgery, 1, 250). It is described in adults treated with aromatic antiepileptics and ...

A 67-year-old male presented with ascites, dyspnoea, peripheral edema and purpura. The history revealed asthma and nasal polyps. The laboratory tests showed an increased peripheral blood eosinophilic cell count. The ascitic fluid analysis showed features consistent with an eosinophilic peritonitis. A skin biopsy revealed eosinophilic vasculitis. Our patient was diagnosed ...

Bottlenose dolphins (Tursiops truncatus) inhabiting coastal waters in the northern Gulf of Mexico have been impacted by recurrent unusual mortality events over the past few decades. Several of these mortality events along the Florida panhandle have been tentatively attributed to poisoning from brevetoxin produced by the dinoflagellate Karenia brevis. While ...

A 74-year-old woman diagnosed with Churg-Strauss syndrome (CSS) complained of difficulty in flexing her left thumb and index finger. Electromyography demonstrated isolated anterior interosseous nerve (AIN) palsy, with no other peripheral neuropathy. We diagnosed this case as spontaneous AIN palsy complicated with CSS, the first case of this kind. Surgical ...

Sweet syndrome, also referred to as acute febrile neutrophilic dermatosis, is characterized by tender, red inflammatory nodules or papules that occur in association with infection, malignancy, connective tissue disease, or following exposure to certain drugs. Although drug-induced Sweet syndrome is rare, granulocyte colony-stimulating factor, all-trans-retinoic acid, and miscellaneous drugs have ...