Pulmonary Metastasis in Infantile Choriocarcinoma: Successful Outcome

Background

Infantile choriocarcinoma is usually fatal without appropriate treatment.

Case characteristics

A 3-month-old boy who presented with respiratory distress, hepatomegaly, amemia and bilateral nodular lesions on chest X-ray.

Observation

Fine-needle liver aspiration revealed necrotic tumour cells. The serum β-hCG level was very high (2057 mIU/L), supporting a diagnosis of infantile choriocarcinoma of the liver. Surgical resection after cisplatin-based multiagent chemotherapy afforded successful remission.

Message

Early treatment of infantile choriocarcinoma can yield a successful outcome.

     

Prevalence of nonalcoholic fatty liver disease in normal-weight and overweight preadolescent children in Haryana,India

Objective

To document the prevalence of non-alcoholic fatty liver disease (NAFLD) and metabolic parameters among normalweight and overweight schoolchildren.

Design

Cross-sectional study.

Setting

Thirteen private schools in urban Faridabad, Haryana.

Participants

961 school children aged 5-10 years.

Methods

Ultrasound testing was done, and 215 with fatty liver on ultrasound underwent further clinical, biochemical and virological testing.

Outcome measures

Prevalence of fatty liver on ultrasound, and NAFLD and its association with biochemical abnormalities and demographic risk factors.

Results

On ultrasound, 215 (22.4%) children had fatty liver; 18.9% in normal-weight and 45.6% in overweight category. Presence and severity of fatty liver disease increased with body mass index (BMI) and age. Among the children with NAFLD, elevated SGOT and SGPT was observed in 21.5% and 10.4% children, respectively. Liver enzyme derangement was significantly higher in overweight children (27% vs 19.4% in normal-weight) and severity of fatty liver (28% vs 20% in mild fatty liver cases). Eleven (8.1%) children with NAFLD had metabolic syndrome. Higher BMI (OR 35.9), severe fatty liver disease (OR 1.7) and female sex (OR 1.9) had strong association with metabolic syndrome.

Conclusions

22.4% of normal-weight and overweight children aged 5-10 years had fatty liver. A high proportion (18.9%) of normal-weight children with fatty liver on ultrasound indicates the silent burden in the population.

     

An Indian family with tyrosine hydroxylase deficiency

Background

Tyrosine Hydroxylase deficiency is a rare neurotransmitter disorder.

Case Characteristics

An Indian family with the disorder.

Observation

Phenotypic variation, elevated serum prolactin, genetic confirmation, and partial treatment-responsiveness.

Messages

Tyrosine Hydroxylase deficiency is a treatable inborn error of metabolism and serum prolactin assists in diagnosis.

     

Study of Family Clustering and <Emphasis Type="Italic">PNPLA3</Emphasis> Gene Polymorphism in Pediatric Non Alcoholic Fatty Liver Disease

Objectives

To find association of pediatric NAFLD with metabolic risk factors, and Patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene polymorphism.

Design

Cross-sectional study

Setting

Pediatric Hepatology unit of a tertiary care hospital

Participants

Overweight/obese children (<18 years) with (69 patients) or without (30 patients) NAFLD (ultrasonography based), and their parents.

Intervention

Metabolic screening, PNPLA3 gene polymorphism, and transient elastography

Outcome measure

Association of pediatric NAFLD with parental metabolic risk factors and PNPLA3 gene polymorphism.

Results

In the NAFLD group, there was high parental incidence of metabolic diseases, fatty liver (80%) and low high-density lipoproteins levels (84%). Family history of NAFLD (in any parent), higher alanine aminotransferase levels and higher total cholesterol levels in the child independently predicted possibility of NAFLD, but similar results could not be replicated for PNPLA3 gene polymorphism. Controlled attenuation parameter measurement (by transient elastography) had high sensitivity and specificity to diagnose steatosis.

Conclusion

There is high familial incidence of metabolic diseases in children with NAFLD. Controlled attenuation parameter can be useful as a non-invasive modality to screen fatty liver in children.

     

Synovial arteriovenous malformation masquerading as arthritis

Background

Synovial arteriovenous malformation is rare.

Case characteristics

We present three children with recurrent monoarthritis secondary to synovial arteriovenous malformation.

Outcome

Two children underwent excision of arteriovenous malformation. Another child had diffuse arteriovenous malformation, which was inoperable.

Message

Synovial arteriovenous malformations should be considered in the differential diagnosis of monoarthritis, especially of the knee.

     

Vitamin D Deficiency in Ambulant Children on Carbamazepine or Sodium Valproate Monotherapy

Objective

To assess the effect of monotherapy with Carbamazepine (CBZ) and Sodium valproate (VPA) on serum 25-OH vitamin D levels in children with epilepsy compared to controls.

Design

Cross-sectional study.

Setting

Outpatient department of a tertiary-care Pediatric Neurology centre, and a nearby day-care centre and school.

Study period

June 2012 to May 2013

Participants

Children with epilepsy aged 2 to 13 years on monotherapy with CBZ (n=28) or VPA (n=28) for at least 6 months; 109 age-matched controls from a nearby day-care centre and school.

Results

The median (IQR) values of 25 (OH) vitamin D was 18.0 ng/mL (13.7-27.3), 21.35 ng/mL (16.4 -25.2) and 30.5 ng/mL (19.1-43.7) in CBZ, VPA and control group, respectively (P=0.008). 60.7% of patients in CBZ group and 35.7 % in VPA group had low 25 (OH) D levels (<20 ng/mL) compared to 27.8% in controls (P=0.001).The serum alkaline phosphatase level was higher in children on carbamazepine therapy (P=0.001) than controls.

Conclusion

This study identifies significant risk of vitamin D deficiency in ambulant children with epilepsy on monotherapy with CBZ or VPA.

     

Steroid pulse therapy for Kawasaki disease complicated with myocarditis

Background

The clinical management of intravenous immunoglobulin-resistant Kawasaki disease shock syndrome (KDSS) is obscure.

Case characteristics

Three children presented with intravenous immunoglobulin-resistant KDSS complicated with myocarditis.

Outcome

All cases were successfully managed with steroid pulse therapy.

Message

Steroid pulse therapy is effective in immunoglobulin-resistant KDSS.

     

The protective effect of fish oil lipid emulsions on intestinal failure-associated liver disease in a rat model of short-bowel syndrome

Purpose

Pediatric patients with intestinal failure need long-term parenteral nutrition (PN), but this nutritional support causes liver dysfunction, such as intestinal failure-associated liver disease (IFALD). Several studies have shown that the lipid emulsion produced by soybean oil (SO) is associated with the occurrence of IFALD. In this study, we evaluated the effect of SO and fish oil (FO) lipid emulsion on hepatic steatosis.

Methods

Sprague-Dawley rats underwent jugular vein catheterization and were divided into three groups: sham operation with normal chow (Sham group), 80% small bowel resection (80% SBR)?+?TPN with SO lipid emulsion (SO group), and 80% SBR?+?TPN with FO lipid emulsion (FO group). All rats were euthanized and the serum biochemistry and hepatic histology analyzed.

Results

No significant differences in the serum liver or biliary enzymes were noted between the SO and FO groups. The pathological findings and NAFLD score in the FO group did not show steatosis and were significantly lower than in the SO group. An analysis of the fatty acids profile in the both the SO and FO groups did not indicate essential fatty acid deficiency (EFAD).

Conclusion

FO lipid emulsion may have a protective role against steatosis of IFALD without EFAD.

     

Neuroschistosomiasis: An Unusual Intracranial Space Occupying Lesion

Background

Neuroschistosomiasis is an uncommonly reported disease.

Case characteristics

An adolescent Indian boy residing in Kenya presented with headache, visual symptoms and seizures, with MRI showing space-occupying lesions in the occipital lobe and cerebellum.

Observation

Brain biopsy was diagnostic of neuro-schistosomiasis; complete recovery was seen with praziquantel and corticosteroid therapy.

Message

This case highlights the importance of considering epidemiology in differential diagnosis and establishing definitive diagnosis even if it is by invasive methods.

     

Advances in diagnosis of chronic liver diseases in pediatric patients

Background

Chronic liver diseases (CLD) present important clinical problem in children with various age-dependent causes. Nonalcoholic fatty liver disease (NAFLD) with its increasing prevalence is a major problem with regard to its timely recognition and the need for long-term disease monitoring. At present, a perfect non-invasive method for the evaluation of liver fibrosis is not available.

Methods

A non-systematic literature search was performed to summarize the current knowledge about transient elastography (TE) with controlled attenuation parameter (CAP) in children with CLD. Ovid MEDLINE, Ovid EMBASE, Google scholar, and The Cochrane Library databases were searched for relevant articles evaluating TE in the pediatric population.

Results

Normal values of liver stiffness measurements (LSM) according to the age are given, as well as the advantages and disadvantages of the method. The utility of TE in specific liver disease in pediatric population is summarized.

Conclusions

TE with CAP is a valuable non-invasive method for the liver-damage assessment. Clinical interpretation of TE results should be made in parallel with the assessment of the patient’s demographics, disease etiology, and essential laboratory parameters.

     

Improving First-hour Breastfeeding Initiation Rate After Cesarean Deliveries: A Quality Improvement Study

Objective

To improve the rates of first hour initiation of breastfeeding in neonates born through cesarean section from 0 to 80% over 3 months through a quality improvement (QI) process.

Design

Quality improvement study.

Setting

Labor Room-Operation Theatre of a tertiary care hospital.

Participants

Stable newborns ≥35 weeks of gestation born by cesarean section under spinal anesthesia.

Procedure

A team of nurses, pediatricians, obstetricians and anesthetists analyzed possible reasons for delayed initiation of breastfeeding by Process flow mapping and Fish bone analysis. Various change ideas were tested through sequential Plan-Do- Study-Act (PDSA) cycles.

Outcome measure

Proportion of eligible babies breast fed within 1 hour of delivery.

Results

The rate of first-hour initiation of breastfeeding increased from 0% to 93% over the study period. The result was sustained even after the last PDSA cycle, without any additional resources.

Conclusions

A QI approach was able to accomplish sustained improvement in first-hour breastfeeding rates in cesarean deliveries.

     

Disseminated cryptococcosis in an immunocompetent toddler

Background

Immunodeficient children are more prone for invasive cryptococcal infections.

Case characteristics

A 2-year-old boy with disseminated cryptococcosis was evaluated for underlying immunodeficiency without success.

Intervention/outcome

Child was managed successfully.

Message

Immunocompetent children with disseminated cryptococcosis can present diagnostic or therapeutic challenge in resource-limited settings.

     

Choroid Osteoma in Schimmelpenning-Feuerstein-Mims Syndrome

Background

Schimmelpenning syndrome is a multisystem disorder.

Case characteristics

A term female neonate with sebaceous nevi of the face had choroid osteoma of the right eye.

Observation

At one month of age, the infant was observed to have choroidal neovascularization that was successfully treated with laser photocoagulation and anti-VEGF.

Message

Choroid osteoma and neovascularization are rare associations of Schimmelpenning syndrome, and should be screened for and managed early.

     

Transcutaneous bilirubin nomogram for healthy term and late preterm neonates in first 96 hours of life

Objective

To develop nomogram of Transcutaneous Bilirubin among healthy term and late-preterm neonates during first 96 hours of age.

Design

Longitudinal observational study.

Setting

Neonatal unit of a tertiary care Hospital of Central Gujarat, India.

Participants

1075 healthy term and late preterm neonates (≥35weeks).

Intervention

Six-hourly transcutaneous bilirubin was obtained from birth to 96 hour of life using Drager JM 103 Transcutaneous Bilirubinometer.

Main outcome measures

Nomogram of Transcutaneous Bilirubin with percentile values was obtained, rate of rise of bilirubin was calculated and predictive ability of normative data was analyzed for subsequent need of phototherapy.

Results

The age-specific percentile curves and nomogram were developed from the transcutaneous bilirubin readings of 1,010 neonates. Rate of rise in first 12 hour was 0.2 mg/dL and was 0.17 mg/dL in 12 to 24 hour of life which decreased on second day of life. Neonates who required phototherapy had consistently higher readings of transcutaneous bilirubin and also higher rate of rise in first 48 hrs.

Conclusion

Neonates whose transcutaneous bilirubin is above the 50th percentile should be monitored for the development of significant hyperbilirubinemia.

     

Neuromelioidosis masquerading as acute demyelinating encephalomyelitis

Background

Neuromelioidosis is a rare conduction, which is difficult to diagnose and treat.

Case characteristics

Preadolescent girl presenting with prolonged fever, acute ascending paralysis and encephalopathy.

Outcome

Neuromelioidiosis was confirmed on brain biopsy culture. Patient improved with an intensive antibiotic regimen.

Message

Neuromelioidosis can mimic acute demyelinating encephalomyelitis clinically and radiologically.

     

Laser Treatment of a Tracheal Inflammatory Myofibroblastic Tumor

Background

Inflammatory myofibroblastic tumors of the trachea are rare childhood quasi-neoplastic lesions.

Case characteristics

7-year-old boy with recurrent episodes of cough, breathing difficulty and wheeze, initially treated as asthma.

Intervention

CT chest and flexible bronchoscopy revealed a mass lesion of the trachea, which was excised by diode laser through the ventilating bronchoscope. Histopathology confirmed it as the inflammatory myofibroblastic tumor.

Message

Use of laser ensured complete endotracheal excision of the tumor.

     

Neonatal Cerebral Air Embolism

Background

Vascular air embolism (VAE) is rare but potentially lethal condition, and survival is rarely reported in newborn.

Case Characteristics

A preterm (27⁺¹ weeks) neonate on Continuous positive airway pressure developed sudden cardiac asystole on day 3 of life and required 30 minutes of cardiopulmonary resuscitation.

Observation

Infant had air embolism in liver and brain. He survived but developed cystic encephalomalcia requiring extensive neuro-rehabilitation.

Message

Air embolism should be considered as differential diagnosis of sudden unexplained cardiac deterioration in well neonate.

     

Endoscopic Management of Vesicoureteral Reflux and Long-term Follow-up

Objectives

To report our experience with endoscopic management of vesicoureteral reflux (VUR) by injection of a tissue bulking substance–Dextranomer/ hyaluronic acid copolymer at vesicoureteric junction.

Design

Retrospective analyses of case records.

Setting

Pediatric Surgery department in a tertiary care government Institute.

Participants

500 children (767 renal units) consecutively referred to the out-patient department with vesicoureteral reflux noted on micturating cysto-urethrogram (MCU) over a period of 13 years (2004-2016).

Intervention

Preoperative VUR grading and renal scars on radionuclide scans were documented. Dextranomer hyaluronic acid copolymer was injected through a cystoscope at the vesicoureteral junction as a day care procedure under short anesthesia. Patients were followed (average duration 27.3 mo) with clinical assessment, periodic urine cultures and renal scans.

Main outcome measure

Cessation of VUR and symptomatic relief / clinical success postoperatively at 3 months.

Results

Complete symptomatic relief was obtained in 482 (96.4%) patients. In 681 units where MCU was available, 614 (90%) units showed resolution of VUR.

Conclusion

Endoscopic injection of tissue bulking substances at vesicoureteric junction to stop VUR seems to be an effective intervention

     

Isolated Congenital Tracheobiliary Fistula

Background

Congenital tracheobiliary fistula is a rare developmental anomaly with a persistent communication between the biliary system and the trachea.

Characteristics

A 7-day-old baby with severe respiratory distress and aspiration pneumonia.

Outcome

Tracheobilliary fistula identified on bronchoscopy. Open surgical excision of fistula was followed by improvement.

Message

This condition should be considered in the differential diagnosis of intractable aspiration pneumonia.

     

Delayed diagnosis of dopa-responsive dystonia in two siblings

Background

Dopa responsive dystonia is characterized by progressive disabling dystonia, diurnal variation and a dramatic response to Levodopa.

Case characteristics

Two siblings presented with regression of motor milestones and hypertonia in lower limbs. History of diurnal variation was present in elder sibling.

Outcome

Both responded dramatically to Levodopa. The genomic DNA analysis of elder sibling revealed a novel mutation.

Message

A trial of Levodopa should be considered in a child with motor regression with diurnal variation, in the presence of extrapyramidal features.