Which signs best indicate increased intracranial pressure in an infant? (Select all that apply)

Choice A reason: Newborn screening for phenylketonuria involves a heel stick blood test within 24-48 hours post-birth to detect elevated phenylalanine levels. Early testing ensures timely diagnosis, preventing intellectual disability from untreated phenylketonuria, a genetic disorder impairing phenylalanine metabolism, requiring immediate dietary intervention.

Choice B reason: Lack of manifestations does not exempt newborns from phenylketonuria screening, as symptoms appear later. Screening is universal, as early detection prevents severe neurological damage from phenylalanine accumulation, making this statement incorrect for standard newborn care protocols.

Choice C reason: Testing one week after birth delays phenylketonuria screening, risking untreated phenylalanine buildup, which causes irreversible brain damage. Screening occurs within 24-48 hours to ensure early intervention, making this timing incorrect for effective management of this metabolic disorder.

Choice D reason: Fasting for 6 hours is not required for phenylketonuria screening. The heel stick test is performed regardless of feeding status, as phenylalanine levels are detectable early. Fasting risks hypoglycemia in newborns, making this an unnecessary and harmful requirement.

Choice A reason: Tremors are not a typical manifestation of Cushing’s syndrome, which results from excess cortisol. Tremors are more associated with hyperthyroidism or neurological disorders, not cortisol-induced metabolic changes, making this an incorrect symptom for this condition.

Choice B reason: Purple striations occur in Cushing’s syndrome due to excess cortisol weakening connective tissue, causing skin thinning and fragile blood vessels. This leads to characteristic purple stretch marks, particularly on the abdomen, a hallmark of chronic hypercortisolism.

Choice C reason: Buffalo hump, a fat pad on the upper back, is a classic sign of Cushing’s syndrome. Excess cortisol causes abnormal fat distribution, depositing adipose tissue in specific areas, altering body shape, and reflecting the metabolic impact of hypercortisolism.

Choice D reason: Hypertension in Cushing’s syndrome results from cortisol’s mineralocorticoid effects, increasing sodium retention and blood volume. This elevates blood pressure, a common cardiovascular manifestation, contributing to the increased risk of heart disease in patients with chronic cortisol excess.

Choice E reason: Moon face, a rounded facial appearance, is caused by cortisol-induced fat redistribution in Cushing’s syndrome. Excess cortisol deposits fat in the cheeks and temporal areas, altering facial contours, a distinctive sign of this endocrine disorder in affected individuals.