Achalasia and Down syndrome: a unique association not to be missed.

Achalasia is a rare primary oesophageal motility disorder that presents as a functional obstruction at the oesophago-gastric junction. The prevalence of achalasia in Down syndrome is much higher, which implies a unique association between these two uncommon conditions. Although the exact aetiology of achalasia is unknown, studies have proposed that its pathogenesis is related to autoimmune, infectious or genetic factors, leading to the intrinsic loss of inhibitory myenteric neurons in both the oesophagus and lower oesophageal sphincter. We herein report the case of a 16-month-old girl with Down syndrome and achalasia who was initially treated for gastro-oesophageal reflux disease. The diagnosis of achalasia was made only when her condition deteriorated, with subsequent failure to thrive, and upon further investigations, including barium swallow study and upper endoscopy. We also review the various mechanisms postulated in the development of achalasia in Down syndrome, as well as the various treatment modalities available for this rare disorder.

Orbital pseudotumour as a presentation of paediatric ulcerative colitis.

A 2-year-old girl presented with a one-day history of acute-onset bilateral painful, swollen eyes and a two­month history of loose stools. Physical examination revealed a right eyelid swelling with proptosis. Magnetic resonance imaging revealed a right orbital pseudotumour. The patient responded well to treatment with intravenous antibiotics and nonsteroidal anti-inflammatory drugs. However, three weeks later, she was readmitted with a vasculitic lesion over her left upper chest, with mucous-bloody diarrhoea. Histopathology confirmed the diagnosis of ulcerative colitis. The patient was treated with intravenous pulse methylprednisolone and sulphasalazine. Two weeks after discharge, she was readmitted for cutaneous vasculitis and worsening diarrhoea. The patient's bowel and extraintestinal diseases resolved upon addition of infliximab to her treatment regimen. Her inflammatory markers also normalised. Azathioprine was subsequently added. Infliximab was discontinued after four doses and prednisolone was tapered off. The patient remained well without any flare-up after 24 months of follow-up.

Paediatric inflammatory bowel disease in a multiracial Asian country.

INTRODUCTION: This study examined the characteristics and trends in the incidence of inflammatory bowel disease (IBD) among children in Singapore. METHODS: We retrospectively reviewed all patients under 18 years diagnosed with IBD over a 14-year period. Information on demographics, disease presentation, laboratory findings, radiological investigations, and endoscopic and histological findings were obtained from the patients' medical records. RESULTS: 32 patients were diagnosed with IBD, 30 of whom had Crohn's disease and 2 had ulcerative colitis. The incidence of IBD rose from an initial rate of 2.2 per 100,000 patients in the year 2000 to a peak of 11.4 patients per 100,000 patients by 2008. Median age of onset of symptoms was 10.5 years. There were more boys (63%) than girls in the group and a higher representation of Indians (34.4%). The most common presenting symptoms were abdominal pain (87.5%), diarrhoea (75.0%) and weight loss (71.9%). Extraintestinal manifestations such as fever and arthralgia were found in over 50% of patients. The most common physical findings were perianal abnormalities (56.3%), mouth ulcers (37.5%) and growth failure (15.6%). Abnormal laboratory findings such as low albumin, raised erythrocyte sedimentation rate, anaemia, thrombocytosis and high C-reactive protein were found in nearly half of the patients. Endoscopic and histological findings showed that a majority of patients (90.6%) also had evidence of inflammation in the upper gastrointestinal tract. CONCLUSION: Paediatric IBD is on the rise. The higher occurrence in Indians, earlier onset and more florid presentation may suggest different genetic and environmental influences specific to Asian children.

Significant reduction in central venous catheter-related bloodstream infections in children on HPN after starting treatment with taurolidine line lock.

OBJECTIVE: The aim of this study was to review the incidence and type of central venous catheter-related bloodstream infection in children on treatment with home parenteral nutrition (PN) before and after the introduction of taurolidine. Taurolidine is a catheter lock solution that prevents biofilm formation and has broad-spectrum bactericidal and antifungal action. Its use in pediatric patients on PN has only been reported in case studies. METHODS: A total of 19 children were reviewed, with the diagnoses of enteropathy (8 cases), short bowel syndrome (7 cases), and gastrointestinal dysmotility (4 cases). Incidence and type of sepsis were reviewed for 8 to 12 months pre- (when heparin was used) and 2 to 33 months postintroduction of the taurolidine catheter lock. RESULTS: There were 8.6 episodes of catheter-related bloodstream infections per 1000 catheter days with heparin and 1.1 episodes per 1000 catheter days with taurolidine (P=0.002). A total of 14 of the 19 patients (74%) had no infections for up to 33 months after changing to taurolidine. No reports of multiresistant organisms or adverse effects with taurolidine were found. CONCLUSIONS: Taurolidine line lock was associated with a decreased incidence of catheter-related bloodstream infections. This finding supports its use in patients with a history of septicemia on treatment with cyclical PN.

Severe intrauterine hemolysis due to anti-C(w).

C(w) is a low-frequency antigen in the Rhesus blood group system. Anti-C(w) can occur naturally or develop as a result of red blood cell sensitization through transfusion or pregnancy. Clinically significant hemolytic disease of the newborn is rarely associated with anti-C(w), with no previous reported cases of hydrops fetalis or severe fetal anemia resulting in intrauterine death. We report an unusually severe case of intrauterine hemolysis resulting from this rare condition. The neonate presented with early-onset hyperbilirubinemia and severe anemia at birth requiring multiple exchange transfusions in the first 24 hours of life. The mother of this infant had a significantly poor obstetric history, having delivered a stillbirth with massive hepatosplenomegaly previously. This case report suggests that intrauterine hemolysis due to anti-C(w) may be life threatening to the unborn fetus.