Metabolic Evaluation in Children aged 3 months to 2 years with Global Developmental Delay.

OBJECTIVES: To study the clinical profile and role of metabolic evaluation in children aged 3 mo to 2 y with global developmental delay (GDD) of unclear etiology. METHODS: In this prospective study, demographic and clinical data along with first line metabolic test results [blood glucose, arterial blood sample analysis, renal function tests, uric acid, serum electrolytes, liver function tests (LFTs), plasma ammonia, arterial blood lactate and pyruvate, urine ketone/ reducing substances] were documented and analyzed. Tandem Mass Spectroscopy (TMS) and Gas Chromatography and Mass Spectrometry (GC-MS) data were also analysed. RESULTS: Of 101 eligible children, 48 were excluded. Among 53 children included in the study, 32 (60.3%) were less than 1 y and 21 (39.7%) were more than 1 y. Four major developmental domains were almost equally affected in 16 (30.1%), three domains in 4 (7.5%) and two domains in 33 (62.4%) children. Fourteen (26.4%) children were found to have a probable metabolic disorder based on initial tests- 10 mitochondrial disorders, 3 organic-acidemias and 1 fatty-acid-oxidation defect. Further, on TMS and GC-MS tests, 11 (20.7%) had a metabolic disorder- 7 mitochondriopathies, 2 methylmalonic-aciduria, 1 each with glutaric-acidemia and ethylmalonic-aciduria. CONCLUSIONS: Among children with GDD of unclear etiology, metabolic errors constitute a small proportion of etiology. In this group early metabolic tests could identify potentially treatable conditions.

Rare case of tubercular parotid abscess.

Acute parotitis progressing to parotid abscess is rare in children. Staphylococcus aureus is the usual pathogen in parotid abscess. Granulomatous parotid abscess due to tubercular aetiology is extremely rare. Authors report a case of chronic parotid abscess in a child who received multiple courses of antibiotics without any cure. The ultrasonography and CT scan of the parotid gland confirmed the extent of parotid abscess and the changes in the parotid lymph nodes. The surgical drainage and the biopsy of the lymph nodes lead to the diagnosis of granulomatous abscess. The antitubercular therapy finally cured the disease without further recurrence.

Tuberculosis in a 2.5-month-old infant: congenital or acquired dilemma?

Infants may develop congenital tuberculosis from an infectious mother or acquire the disease postnatally by contact with an infectious adult. Delayed diagnosis is common, especially in infants under 1 year of age, and, if unrecognised, there is an increased risk of death. A 2.5-month-old boy presented with respiratory distress, small inhomogeneous opacities in both lungs and hepatosplenomegaly mimicking sepsis. He had received BCG vaccination and there was no history of contact with tuberculosis (TB). He had had fever since 1 month of age for which there had been several outpatient visits. Gastric aspirate cartridge-based nucleic acid amplification test (CBNAAT) confirmed TB and sonological evaluation demonstrated multiple granulomata in the liver and spleen, and a liver biopsy supported TB. He responded well to 12 months of anti-tuberculous treatment. The mother's tuberculin test, chest radiograph and endometrial biopsy showed no evidence of TB. There was no history of tuberculous contact with close family members. Despite the lack of proof of current tuberculous TB infection in the mother, it is likely that the infant had congenital TB.

Unilateral lateral rectus palsy: an unusual presentation of pineal epidermoid cyst.

An 11-year-old boy presenting with sudden onset double vision, headache and neck pain was found to have left lateral rectus palsy, papilledema and neck rigidity. An initial diagnosis of benign intracranial hypertension was considered. However, magnetic resonance imaging (MRI) of the brain surprisingly discovered the pineal gland cyst. He underwent Krause´s procedure for the excision biopsy of the cyst. Histopathological examination confirmed epidermoid cyst. Postoperatively, he had transient ataxia and upgaze palsy but recovered well. He was asymptomatic during the first and third-month follow-ups. The case highlights the unusual presentation of a rare intracranial tumor, pineal epidermoid cyst. Neuroimaging and timely surgery lead to a good outcome.

Prevalence of respiratory syncytial virus infection among children hospitalized with acute lower respiratory tract infections in Southern India.

BACKGROUND: Respiratory syncytial virus (RSV) is a leading cause of lower respiratory infections among children. AIM: To investigate the proportion of RSV and non-RSV respiratory viral infections among hospitalized children ≤ 5 years. METHODS: Hospitalized children aged < 5 years, with a diagnosis of acute lower respiratory infections (ALRI), admitted between August 2011-August 2013, were included. Cases were defined as laboratory-confirmed RSV and non-RSV respiratory viruses by direct fluorescence assay from the nasopharyngeal wash. RESULTS: Of 383 1-59 mo old children hospitalized with an acute lower respiratory infection, 33.9% (130/383) had evidence of viral infection, and RSV was detected in 24.5% (94/383). Co-infections with RSV and other respiratory viruses (influenza A or B, adenovirus, para influenza 1, 2 or 3) were seen in children 5.5% (21/383). Over 90% of the RSV-positive children were under 2 years of age. RSV was detected throughout the year with peaks seen after the monsoon season. Children hospitalized with RSV infection were more likely to have been exposed to a shorter duration of breastfeeding of less than 3 mo. RSV positive children had a shorter hospital stay, although there were significant complications requiring intensive care. Use of antibiotics was high among those with RSV and non-RSV viral infections. CONCLUSION: Our study provides evidence of a high proportion of RSV and other virus-associated ALRI among hospitalized children in India. RSV infection was associated with fewer days of hospital stay compared to other causes of lower respiratory infections. A high level of antibiotic use was seen among all respiratory virus-associated hospitalizations. These results suggest the need for implementing routine diagnostics for respiratory pathogens in order to minimize the use of unnecessary antibiotics and plan prevention strategies among pediatric populations.

Acute severe monarthritis: a rare manifestation of scrub typhus.

Scrub typhus caused by Orientia tsutsugamushi is an important cause for fever of unknown origin in endemic areas including India. The vasculitis associated with the disease leads to a variety of clinical manifestations. However, the joint involvement is quite rare and not reported in children. We present severe arthritis of hip joint associated with scrub typhus causing a diagnostic and management challenges in a 4-year-old girl.