Pediatric Crohn disease: A case series from a tertiary care center

Crohn disease (CD) is an inflammatory bowel disease that causes transmural inflammation of the gastrointestinal tract. Growth failure is a major complication and can occur before gastrointestinal manifestations in children with CD. We present here four such cases where short stature and undernutrition constituted major symptomatology, along with enteric features. Median age of presentation was 13 years. Intermittent abdominal pain and growth failure were the predominant clinical manifestations. Features of imaging and colonoscopy were suggestive of CD. A poor response was noted to corticosteroids and azathioprine in three children. Clinical remission was not achieved as per abbreviated pediatric CD activity index score. One child succumbed to illness secondary to dilated cardiomyopathy. A good therapeutic response with significant weight gain was observed in two children after starting biologicals. Only one child responded to oral corticosteroids and mesalamine. Considering biologicals early in chronically active moderate to severe CD can help in altering the prognosis

Expanded newborn screening: Guiding principles, concerns and relevance

Since its introduction in 1960s, universal newborn screening (NBS) using the heel-prick dried blood spot samples has become an integral part of public health system in developed countries expanded to pre-symptomatic detection of specific inherited metabolic, endocrine and hematologic disorders. In our country, NBS may become relevant with epidemiological shift and increasing access to technology. Current recommendations include a phased introduction of screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose 6-phosphate dehydrogenase deficiency. In this review, the guiding principles of NBS, some of the individual disorders, the concerns and relevance to our country are discussed. Establishing a pre- and post-screening care and education are of utmost priority before NBS is adapted into health care system

PHACE syndrome in antenatally diagnosed posterior fossa anomaly

PHACE is a neurocutaneous syndrome, an acronym to describe patients with facial segmental hemangiomas and other malformations. We describe a newborn antenatally diagnosed to have posterior fossa anomaly and subsequently as PHACE syndrome

Intestinal tuberculosis and Crohn: A clinician’s diagnostic dilemma

A 12 year old girl with altered bowel habits, hematochezia and growth failure was evaluated for intestinal tuberculosis and inflammatory bowel disease and was ultimately diagnosed to have Crohn disease. This case is being reported to highlight the difficulty in differentiating inflammatory bowel disease from gastrointestinal tuberculosis in Asia Pacific region