Gilbert syndrome in a young boy with thalassemia trait: a rare association

Gilbert syndrome (GS) is a mild benign disease characterized by asymptomatic unconjugated hyperbilirubinemia in absence of liver disease or hemolysis. This is the most common disorder associated with bilirubin metabolism with autosomal recessive inheritance. It usually precipitates during episodes of dehydration, fasting or stress like intercurrent illnesses. Here, we are reporting a case of Gilbert syndrome in 12 yrs old boy with thalassemia trait who presented with history of persistent jaundice for last 10 months. He had disproportionately higher concentration of unconjugated bilirubin which cannot be attributed to either disorder alone. Authors considered the possibility of Gilbert syndrome after ruling out hemolytic anemia. Though genetic testing is considered to be gold standard for diagnosis of Gilbert syndrome but availability is an issue. Calorie restriction test and nicotinic acid provocation test has been used to confirm GS too. Rifampicin test, another simple test which has been described in literature though not widely used in diagnosis. It has high sensitivity and specificity too. Authors had performed rifampicin test in our index case to confirm the diagnosis of GS. Here, authors wish to highlight the patients with both GS and thalassemia trait has higher bilirubin concentrations and is more likely to be icteric than either defect alone.

Apert Syndrome with Epibulbar Dermoid Cyst in the Eye - Coincidence or an Additional Clinical Finding: A Case Report.

Craniosynostosis are heterogeneous group of syndromes characterized by premature fusion of suture that may occur alone or together with other anomalies. Apert syndrome, an autosomal dominant disorder, first described by Baumgartner in 1842, accounts for 4.5% of all children with craniosynostosis. We report a case of a 5-year-old female child who presented with complaints of inability to speak, facial dysmorphism and symmetric syndactyly of both hands and feet.

Infection Associated Hemophagocytic Lymphohistiocytosis: A Case Report.

The term hemophagocytosis describes the pathologic finding of activated macrophages, engulfing erythrocytes, leukocytes, platelets and their precursor cells. This phenomenon is an important finding in patients with hemophagocytic syndrome, more properly referred to as hemophagocytic lymphohistiocytosis (HLH). HLH is a distinct clinical entity characterized by fever, pancytopenia, splenomegaly and hemophagocytosis in bone marrow, liver or lymph nodes. It has been associated with a variety of viral, bacterial, fungal and parasitic infections, as well as collagen-vascular diseases and malignancies and is uniformly fatal if left untreated. We report Staphylococcal aureus-induced hemophagocytic lymphohistiocytosis in a 3-month-old girl presenting with respiratory distress, sepsis and multiorgan failure. This case report may at least in part guide pediatricians and other physicians to recognize this rare entity of infection triggering fatal HLH and thus proper treatment may be instituted in those affected with this disease at the earliest.

The Role of Clinical Signs in the Diagnosis of Late-onset Neonatal Sepsis and Formulation of Clinical Score.

Neonatal sepsis is the most important cause of morbidity and mortality in developing countries. The low birth weight and preterm babies are more vulnerable to it. It is diagnosed when generalized systemic features are associated with pure growth of bacteria from one or more sites. However, the signs of sepsis are nonspecific and the outcome of a neonate with sepsis depends on its early identification. So, this study is done to evaluate the role of various clinical signs in diagnosing late-onset sepsis, their statistical analysis and to develop a scoring system-based purely on clinical signs for early diagnosis and prompt institution of treatment.