Fetal euthyroid goiter.

We present a very unusual case of a baby born with antenatally diagnosed large neck swelling causing compression of trachea on imaging, who was euthyroid. There was no history of any thyroid disease in the mother and no history of exposure to known goitrogens. The goiter gradually reduced in size and baby’s thyroid function as well as neurodevelopment remained completely normal during follow-up.

Childhood trauma profile at a tertiary care hospital in India.

Childhood injuries are the leading cause of morbidity and mortality worldwide. We evaluated the type of pediatric injuries encountered in the emergency room amongst 225 children (boys 151, girls 64; age range, 2 mo-12 yr). Data were collected using a structured injury proforma over a period of 12 months. Injuries occurred at home (n=137, 60.8%), street (n=38, 16.8%), and playground (n=37, 16.4%). Most frequent injuries were falls (n=144, 64%) and road traffic injuries (RTI) (n=37, 16.4%). Injuries mostly consisted of fractures (n=72, 32%), bruises (n=39, 17.3%), and lacerations (n=35, 15.5%). Child abuse was recognized in 7 (3.5%) children. There was an average delay of 2 hour 50 minutes to reach the medical facility.

Spectrum of primary immune deficiency at a tertiary care hospital.

OBJECTIVE: To report various primary immune deficiencies diagnosed in children at a tertiary care hospital, their clinical manifestations and laboratory profile. METHODS: Case records of children diagnosed to have primary immunodeficiency disorders over a period of 24 months at a tertiary care hospital in northern India were evaluated. RESULTS: Twenty-seven children (M: F=3.5: 1) with mean age of 5.4 +/- 4.6 yrs (2 mo-16 yr) were diagnosed to have primary immunodeficiency. Thirteen children had chronic granulomatous disease (CGD), 4 had severe combined immunodeficiency (SCID), 4 had hypogammaglobulinemia, 2 had Ataxia telangiectasia, and one each had DiGeorge syndrome, Wiskott Aldrich syndrome, hyper IgM syndrome and leukocyte adhesion defect. Common mode of presentation were recurrent/ persistent pneumonia in 19, recurrent/ persistent diarrhea in 10, deep seated abscesses in 8, allergy in 3, disseminated tuberculosis infection in 2, extensive fungal infections in 2 and 1 each of disseminated cytomegalovirus (CMV) infection, disseminated BCG disease, otitis media and meningitis. Family history of sibling deaths was elicited in 2 families. Infectious agents were isolated in 16 cases. CONCLUSION: From a single center 27 patients with primary immune deficiency could be identified by chart review, suggesting need for high index of suspicion for diagnosis of primary immune deficiency in India. Though the exact prevalence is not known there is need to make a registry to document the magnitude of problem of these disorders.