An unusual cause of edema in a child with congenital heart disease post Fontan procedure

Protein Losing Enteropathy Post Fontan procedure. Protein Losing Enteropathy (PLE) is an uncommon cause of edema in children with congenital heart disease. Protein-Losing Enteropathy may be defined as excessive loss of proteins across the intestinal mucosa and is due to either a primary gastrointestinal abnormality or secondary to cardiac disease. Protein-losing enteropathy (PLE) is a rare complication of the Fontan palliation for functional single-ventricle. Although PLE occurs in about 3.5% of patients post-Fontan, it confers marked morbidity and high mortality within 5 years of diagnosis. The pathogenesis of Fontan-related PLE is not completely understood, and it is unclear why it develops in some patients post-Fontan and not others. We describe a child with Double Inlet Right Ventricle who had undergone Fontan procedure, and presented to us with generalised oedema. The child had hypoproteinaemia, the common causes for which were ruled out and was diagnosed as Protein Losing Enteropathy (PLE) related to his surgical intervention. Though, not frequently encountered it should be kept in mind as one of the causes of anasarca.

Think beyond ascites

In children with gross, persistent ascites wherein clinical scenario is not agreeable to common conditions, one needs to revise the diagnosis and rule out the surgical cause for abdominal distension mimicking ascites. We are reporting here, a case of two year old female child who presented with abdominal distension, clinically suggestive of ascites and subsequently diagnosed to have a large chylous mesenteric cyst which was determined on biochemical investigations, imaging and confirmed on surgical intervention. She was managed surgically with successful outcome.

Knowledge and practice among the pediatric post graduate residents regarding the technique of blood culture sampling

Background: Errors in sampling during blood culture, may lead to contaminants or poor yield which result in faulty reports increasing patient's suffering, endanger patient safety and increasing cost of health care. Optimal knowledge about the sampling method for important microbiological test like blood culture translates into appropriate practices. Authors objectives was to assess the knowledge and practice of the Pediatric resident doctors, regarding sterile technique during blood culture collection. The change in the knowledge of the residents during blood culture sampling with regards to maintaining asepsis after watching educational video was evaluated.Methods: A quasi experimental, questionnaire based study with pre–post intervention,  involved post graduate resident’s knowledge and  practice regarding the sterile technique during blood culture collection. The data   analyzed using paired t test and Chi-square Test.Results: 18(60%) participants accepted that they have collected blood culture not maintaining complete asepsis at some time in past. The reasons for the same were lack of knowledge 14 (46.66%), no assistance from staff for the procedure 14 (46.66%), non-availability of sterile gloves 4 (13.33%), non-availability of antiseptic solution 4(13.33%), time consuming 8 (26.66%).Conclusions: Ultimately, blood culture contamination is a complex, challenging problem that requires a multidisciplinary approach. Regular teaching modules for the health personnel and ensuring environment conducive to correct practises would definitely help in improving the sampling practises for aseptic procedures.

Neurocognitive outcome in young child with Isovaleric Acidemia

Isovaleric Acidemia (IVA) is inherited as an autosomal recessive trait, caused by the deficiency of the enzyme isovaleryl CoA dehydrogenase. It has the prevalence of 1 in 62,500 (in parts of Germany) to 1 in 250,000 live births (in the United States). Acute episodes of metabolic decompensations may occur, which may mimic sepsis, ketosis or shock. Early diagnosis & early initiation of treatment has been reported to correlate with a good neurocognitive outcome. This is case of child presenting in Paediatric emergency department with fever, vomiting, increased respiratory activity and lethargy. Child had GCS score of 8/15, acidotic breathing, hypotonia with hyporeflexia. Sepsis screen, metabolic work up and neuroimaging were all normal except for high anion Gap acidosis with ketosis. So further neurometabolic screening work up was done in view of persistent metabolic acidosis, developmental delay, and bad obstetric history in mother. It revealed increased excretion of isovalerylglycine 1(IVG 1), Isovalerylglycine 2 (IVG2) Lactate, 3-Hydroxypropionate (3HP) and 3-Hydroxybutyrate (3 HB).Serum lactate 358.54 (control 1.1-208.1) confirming the diagnosis of Isovaleric Acidemia. After recovery from the acute attack, the patient was advised low-protein diet (1.0-1.5 g/kg/24 hrs.) and carnitine (100 mg/kg/24 hrs. orally) supplements. On follow up child is asymptomatic & showing neurological improvement as he started achieving further developmental milestones during 6 months follow up.Early diagnosis and early treatment of IVA cases definitely results in favorable outcome and better prognosis. But chronic intermittent cases presenting late should not be neglected, proper medical management can reverse neuromotor consequences in them also.

Transient leukaemia of Down syndrome in a neonate: case report

Transient leukemia of Down syndrome(TL-DS)' or transient myeloproliferative disorder (TMD) or transient abnormal myelopoiesis (TAM) is a hematologic abnormality characterized by an uncontrolled proliferation of myeloblasts in peripheral blood and bone marrow which characteristically affects newborns and babies with Down syndrome. Children with Down syndrome (Trisomy 21) have a unique predisposition to develop myeloid leukemia of Down syndrome(ML-DS). In majority of cases of TL-DS, the GATA1 mutant clone goes into spontaneous remission without the need for chemotherapy. However, 10-20 % of neonates with TL-DS and silent TL-DS subsequently develop ML-DS in the first 5 years of life due to additional oncogenic mutations acquired by the persistent GATA1 mutant cells. We present here, one such case of Down syndrome with TL-DS in a neonate.

Double trouble: hemophagocytic lymphohistiocytosis in a child with Dengue fever

The epidemic of Dengue is steadily increasing in more than 100 endemic countries. During critical phase, of this disease, shock with organ dysfunction and severe bleeding, can occur. Rarely, it can be further complicated by Hemophagocytic lymphohistiocytosis (HLH), which results from aberrant activation of immune mechanism. HLH is a rare, frequently fatal if untreated condition. It challenging to diagnose because initial symptoms mimic other conditions which are more common. Dengue induced Secondary Hemophagocytic lymphohistiocytosis (HLH), may be responsible for severe form of Dengue with adverse outcomes. We describe a case of an infant, with Dengue fever whose clinical situation deteriorated after being stable during initial phases of illness due to development of Secondary Hemophagocytic lymphohistiocytosis (HLH). The child had persistent fever, anemia, hepatomegaly with deranged coagulation which directed towards diagnosis of Secondary Hemophagocytic lymphohistiocytosis (HLH). We discuss the features of our case and its management to sensitize the clinicians to consider this condition in patients with severe Dengue fever.

Intrauterine upper limb thrombosis: an unusual presentation

Intrauterine thrombosis with extremity ischemia presenting at birth in a newborn is a rare event. A 29 year old mother, 2nd gravida with one first trimester spontaneous abortion delivered a 33week gestation male preterm baby. On Examination, the entire left upper limb was ischemic and edematous with an absent flow on Doppler USG. Low molecular weight heparin (LMWH) was started after which gradually the limb turned pink with good volume pulsations. Thrombophilia mutation studies revealed the heterozygous state for the MTHFR (C677T) mutation only in the mother. Prompt diagnosis and early treatment has a favourable outcome in cases of intra-uterine thrombo-embolism.

Awareness about thalassemia and feasibility of cascade screening in families of thalassemia major patients

Background: The main objective of this study is to assess knowledge and attitude of parents & extended relatives of children diagnosed with Thalassemia major and to evaluate feasibility of screening of extended families for thalassemia trait by correlating their willingness to get screened with actual screening.Methods: This was a cross sectional type of descriptive' analytical study, conducted at the thalassemia day care center at a tertiary care teaching hospital in western India among 230 study population using a pre-designed and pre-validated structured questionnaire.Results: We found the overall knowledge score of parents about thalassemia was significantly better than relatives. About 95.83% of parents and only 31.86% of the relatives amongst the study population had adequate knowledge. Majority of study population (84.61% relatives and 100% parents) had positive attitude. The significant contributing factors for knowledge and attitude towards thalassemia were age, marital status, education level, religion and per capita monthly income. 2% relatives agreed to get themselves screened for thalassemia status out of which only 20% got themselves screened.Conclusions: This study has identified key areas which need to be highlighted and emphasized in public awareness campaigns for thalassemia screening in India.

Risk factors for mortality among Human Immuno Virus infected children on antiretroviral therapy

Background: Children infected with HIV often reach the health care well after progression to severe immunosuppression which results in higher morbidity and mortality as compared to adults. They are vulnerable to faster disease progression compounded by susceptibility infections and social factors like attrition of caretakers. The present study delineates the factors for poor outcomes among HIV infected children.Methods: The records of HIV infected children from 1 to 15 years of age, started on HAART, registered at ART Centre at a tertiary hospital were reviewed in the Retrospective descriptive study. The demographic details, growth parameters, clinical features, WHO staging and investigations were assessed to study the risk factors for mortality in these children.Results: Amongst the 205 HIV infected children, enrolled in the study, the incidence of mortality was 27/205 (13.7%). The mean age of HIV infected children on ART in the no mortality and mortality group was 8.19 years and 8.25 years. The mean WHO stage of HIV infected children on ART in no mortality and mortality groups at the start of the study was 2.75 (SD=0.89) and 3.66 (SD=0.48), respectively. The mean CD4 count at start in the mortality group (195.85'105.57 cells/mm3) is significantly lower as compared to the no mortality group (306.2+355.66 cells/mm3). The mean grade of malnutrition in the no mortality and mortality groups was 1.84 and 2.88, respectively. Tuberculosis was present in 48.78% at start.Conclusions: Presence of advanced clinical stage, immunosuppression, poor nutritional state, and shorter duration of therapy are important factors deciding outcome of the children on HAART. The intense monitoring in period post starting of HAART will ensure better outcomes.

Correlates of picky eating behaviour in children and its effect on growth

Background: Picky eating is common in preschool-aged children. Children's picky eating behaviour has been linked both to being overweight and underweight. Authors objectives was to study the factors associates of picky eating behaviour on growth and nutritional status of children.Methods: A Cross-sectional study done in 200 parents of children between 1-5 year age visiting outpatient department. Picky eating behaviours were assessed using questions from children eating behaviour questionnaire.Results: In the study, the estimated prevalence rate was 25%, maximum 38% at 49 to 60 months. 26% of subjects with picky eating behaviour had height for age <-3SD (severely stunted) 38% of subjects with picky eating behaviour had weight for height <-3SD (severely wasted) as compared to only 4% in non-picky eating behaviour subjects. Low birth weight and exclusive breast feeding for less than 6 month, were found to be significant risk factor for development of picky eating behaviour, while no significant association was seen with the time of introduction of semisolid complimentary feeds.Conclusions: Picky eating is major parental concern and impacts growth of children. The children with picky eating behaviours need to be monitored for growth.

Langerhans cell histiocytosis with Pulmonary involvement in an infant - A case report

Background:1Langerhans cell histiocytosis (LCH) is characterized by monoclonal proliferation and inltration of organs by Langerhans cell. Pulmonary involvement is common in young adults, but it is uncommon in children. Case summary:A 7 month old female child, presented with shortness of breath and multiple hypopigmented macules with verrucous lesions over scalp. HRCT was chest, showed tiny cysts with cavitatory nodules and nodules with reticulations, likely to represent LCH. Skin biopsy had inltrating epidermis s/o LCH, immunohistochemistry revealed CD1a positive. Hence the diagnosis of Multisystemic Langerhans cell histiocytosis with pulmonary involvement was made. Infant planned to start chemotherapy but deteriorated, and succumbed to the disease. Conclusion:Pulmonary involvement is generally a component of systemic involvement. Therefore, children with persistent respiratory problems should be carefully evaluated for rare entities like Pulmonary LCH.