Novel STXBP2 Mutation Causing Familial Hemophagocytic Lymphohistiocytosis.

Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare autosomal recessive disorder. Diagnosis is established in presence of genetic mutation or positive family history in one of the siblings. Common genetic mutations associated with FHL are mutations in gene PRF-1 (also known as FHL 2), UNC13D (FHL 3) and STX11 (FHL 4). Recently mutation in STXBP2 encoding syntaxin binding protein 2 (Munc 18 -2) has been found to be associated with FHL type 5. Here we describe the first reported Indian patient with homozygous mutation in STX BP2 gene (c1697 G>A resulting in amino acid change p.G566D) causing FHL 5.

Validation of the children's depression rating scale- revised for adolescents in primary-care pediatric use in India.

Background: Adolescent depression needs to be identified and treated in the primary care settings. There is no clinician-rated measure validated in India for identifying depression among adolescents. Aim: We studied the diagnostic accuracy, reliability, and validity of Children's Depression Rating Scale - Revised (CDRS-R) for primary care pediatrics. Setting and Design: Prospective study in three schools in Southern India. Materials And Methods: Adolescents recruited were administered the CDRS-R by a pediatrician and clinical psychologist along with Beck Depression Inventory (BDI) for convergent validity. Impact of Event Scale (IES) for divergent validity and the ICD-10 clinical diagnosis of depressive disorders using modified Kiddie-SADS-Present and Lifetime Version (K-SADS-PL) interview as reference standard were administered by a psychiatrist independently. Appropriate statistical analyses for diagnostic accuracy, reliability, and validity were done. Results: A cut-off score of 30 (sensitivity = 83%, specificity = 84%; AUC in ROC = 87%) in CDRS-R is suggested for diagnosing depression. The inter-rater reliability (r = 0.73) and test-retest reliability (r = 0.98) was good. In addition to the adequate face and content validity, CDRS-R had good internal consistency (α = 0.76), high convergent (r = 0.71; P = 0.001), and divergent validity (r = 0.28; P = 0.20). There was moderate concordance with the reference standard of ICD-10 diagnosis (45.5%) in identifying depression and CDRS-R discriminated 80% of the other psychiatric morbidity. The six-factor structure explained 60.6% of variance. Conclusion: The CDRS-R showed strong psychometric properties and is now available for use in the primary-care pediatric practice in India.

Acute pancreatitis as the initial presentation in systemic lupus erythematosus.

It is exceptionally rare for acute pancreatitis to be the presenting manifestation of childhood systemic lupus erythematosus. We report a 14-year-old girl who presented with a history of fever, generalized rash, arthralgia and abdominal pain. Her serum amylase was 1472U/L and lipase 3316 U/L suggestive of acute pancreatitis. Other investigations revealed pancytopenia, low complement, high 24-hour urinary protein and elevated ANA and dsDNA. She was treated with IV methylprednisone, followed by oral steroids.

Ocular manifestations of Behcet's disease.

Behcets disease is a systemic inflammatory vascular disorder characterized by recurrent oral and genital ulcers, eye lesion, arthritis and skin lesions. We report a case of Behcets disease with ocular manifestation in an 8 year old boy.

Paraneoplastic papilloedema in a child with neuroblastoma.

Non-metastatic neurological disease complicating neuroblastoma is well recognized. Gross papilloedema in the absence of intracranial disease as initial manifestation of neuroblastoma is reported in adults. We report for the first time a case of bilateral papilloedema in a child with neuroblastoma in the absence of intracranial disease and hypertension.

Scrub typhus.

Scrub typhus is being increasingly reported in adults in India.It should be considered a strong possibility in all undifferentiated fevers. Two children with this infection are being reported highlighting the wide variation in clinical presentation. Specific tests should be preferred over Weil Felix test wherever possible especially in areas reporting a high incidence of the infection.

Pulmonary aspergillosis in a child with hepatic failure.

Invasive aspergillosis is described more frequently as a complication of neoplastic disease and in immunocompromised patients. Hepatic failure is not a generally recognized risk for pulmonary aspergillosis. We report a 3-year-old boy who presented with hepatic failure and pneumonia and whose autopsy revealed liver cirrhosis and pulmonary aspergillosis.

Non-01 Vibrio cholerae septicemia and meningitis in a neonate.

Non-O1 Vibrio cholerae is known to cause diarrhoea as well as extra-intestinal infections in adults and children. However meningitis in children is a rare occurrence. We report a neonate who developed septicemia and meningitis due to Non-O1 Vibrio cholerae.