Gastric Pacing in a Child with Severe Gastroparesis and Review of the Literature

Gastroparesis is a disorder characterised by symptoms of and evidence for gastric retention in the absence of mechanical obstruction. Symptoms include nausea and vomiting, early satiety, postprandial fullness, regurgitation and abdominal pain. Common causes of gastroparesis are diabetes, post-surgical and idiopathic. In some patients, gastroparesis can be very severe and refractory to medical therapy including anti-emetics, anti-reflux and pro-kinetic medications. Gastric electrical stimulation represents a novel treatment for severe gastroparesis by regulating gastric electrical dysfunction with a neurostimulator. In adult studies, vomiting frequency has been reduced by up to 81% from baseline. We report a case of a 13-year-old girl with life-long severe idiopathic gastroparesis who was successfully treated by gastric pacing

Urinary reducing substances in neonatal intrahepatic cholestasis caused by citrin deficiency

Neonatal cholestasis due to citrin deficiency is an autosomal recessive metabolic disorder caused by mutations in SLC25A13 gene. Mutations in this gene have a relatively high prevalence in East-Asian races compared to European or Afro-Caribbean races. Mutations in both sets of chromosomes often lead to self-limiting early onset cholestasis and growth retardation referred as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). It is associated with a wide range of metabolic derangements including galactosemia and aminoacidemia, which can be detected on the newborn blood spot screening. Galactose, being a reducing sugar, can also be detected using Clinitest® (Clinitest® Reagent Tablets, Bayer Corporation, Diagnostics Division, Elkhart, IN, USA), a common screening test used in the work up of metabolic and hepatic diseases. In the western population classical galactosemia is often suspected when non glucose reducing substances are detected in the urine of infants with cholestasis. However in East-Asian races the prevalence of classical galactosemia is very low whilst galactosemia due to altered uridine diphosphate-galactose epimerase activity in NICCD is more common. We present a case of NICCD in an East-Asian infant with cholestasis and persistently positive urine reducing substance. Conclusion: NICCD deficiency should be considered as a differential diagnosis in any infant with cholestasis and persistently positive urinary reducing substances

Typhoid and Scrub Typhus Coinfection in a Returned Traveler

This is a case report of a 12-year-old returned traveler with typhoid and scrub typhus coinfection. The diagnosis of typhoid was made early with blood cultures and Widal Weil Felix serology. Persistent fever despite appropriate antibiotics for typhoid fever prompted a search for concomitant infection, which led to the diagnosis of scrub typhus confirmed by Orientia tsutsugamushi serology. The patient was given doxycycline with good clinical response. Scrub typhus infection should be an early consideration in the differential diagnoses of fever in a returned traveler from regions where it is endemic. Coinfections should be taken into consideration particularly when fever or symptoms persist despite adequate therapy for a previously identified microorganism

Exclusive enteral nutrition with concomitant early thiopurine use was effective in maintaining steroid-free remission in a Southeast Asian cohort of children with Crohn’s disease

Abstract Background Exclusive enteral nutrition (EEN) is as effective as corticosteroids in inducing remission in children with Crohn’s disease (CD). However, over 50% of these children relapse by 12 months of diagnosis. Thiopurines are commonly prescribed as maintenance therapy for CD, but evidence for its efficacy is controversial. Data on the effectiveness of EEN in Southeast Asian (SEA) children with CD is scarce. This study aims to evaluate the efficacy of EEN induction therapy in a cohort of SEA children with newly diagnosed CD. The secondary aim was to evaluate concomitant early azathioprine (EAZ) use in determining remission rate at 6 and 12 months. Methods Case records of all children with newly diagnosed CD from 2011 to 2014 were reviewed and relevant demographic as well as clinical data were extracted. The primary outcome measure was the number of patients who completed EEN induction therapy and achieved remission (Paediatric Crohn’s Disease Activity Index; PCDAI≤10). Factors influencing duration of remission were evaluated in particular early azathioprine (EAZ) defined as starting azathioprine within one month of diagnosis versus late azathioprine (LAZ) use. Results Forty children with newly diagnosed CD were identified. Thirty-three children: 67% boys, median age 13y (range 3–17) completed 8 weeks of EEN induction therapy and 91% achieved remission. Significant improvements were seen in PCDAI scores (32.7 ± 9.2 to 4.2 ± 5.1; p < 0.001), mean BMI z-score (− 1.38 ± 1.57 to − 0.82 ± 1.27; p = 0.004) and baseline inflammatory markers: Erythrocyte Sedimentation Rate (51.6 ± 30.1 mm/h to 13.3 ± 7.1 mm/h; p < 0.0001) C-Reactive Protein (44.6 ± 51.0 mg/L to 5.2 ± 7.6 mg/L; p = 0.001), Albumin (30.7 ± 7.5 g/L to 38.7 ± 3.9 g/L; p < 0.0001), Platelets (464 ± 161 × 109 to 370 ± 111 × 109; p < 0.0001),. Early azathioprine initiation was associated with a remission rate of 80 and 73% at 6 and 12 months respectively. Remission was also maintained for longer duration in EAZ vs LAZ groups (p = 0.048). Conclusion EEN effectively induces remission in this cohort of SEA children with newly diagnosed CD. Early initiation of thiopurine with EEN induction therapy is effective in maintaining steroid-free remission for at least one year

Obstructive Uropathy in a Child with Severe Chronic Constipation

Urinary symptoms are well-described in children with chronic constipation which include enuresis, urgency and recurrent urinary infections. Renal tract obstruction is a rare complication of severe chronic constipation. We describe a case of a 10-year-old boy with a history of long-standing constipation who presented with obstructive uropathy. Treatment strategies involved intensive medical therapy, parental education, behaviour modification strategies and close follow-up in a specialised constipation clinic. The obstruction was reversed and medications were discontinued after six months. Successful management of children with chronic constipation involves a multi-disciplinary approach in a specialised constipation clinic

∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid

Abstract Background Oral cholic acid therapy is an effective therapy in children with primary bile acid synthesis deficiencies. Most reported patients with this treatment have 3β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency. The aim of the study was the evaluation of cholic acid therapy in a cohort of patients with the rarer Δ4-3-oxosteroid 5β-reductase (Δ4-3-oxo-R) deficiency. Methods Sixteen patients with Δ4-3-oxo-R deficiency confirmed by AKR1D1 gene sequencing who received oral cholic acid were retrospectively analyzed. Results First symptoms were reported early in life (median 2 months of age), with 14 and 3 patients having cholestatic jaundice and severe bleeding respectively. Fifteen patients received ursodeoxycholic acid before diagnosis, with partial improvement in 8 patients. Four patients had liver failure at the time of cholic acid initiation. All 16 patients received cholic acid from a median age of 8.1 months (range 3.1–159) and serum liver tests normalized in all within 6–12 months of treatment. After a median cholic acid therapy of 4.5 years (range 1.1–24), all patients were alive with their native liver. Median daily cholic acid dose at last follow-up was 8.3 mg/kg of body weight. All patients, but one, had normal physical examination and all had normal serum liver tests. Fibrosis, evaluated using liver biopsy (n = 4) or liver elastography (n = 9), had stabilized or improved. Cholic acid therapy enabled a 12-fold decrease of 3-oxo-∆4 derivatives in urine. Patients had normal growth and quality of life. The treatment was well tolerated without serious adverse events and signs of hepatotoxicity. Conclusions Oral cholic acid therapy is a safe and effective treatment for patients with Δ4-3-oxo-R deficiency