Pediatric Conditions Quiz: CF, Hydrocephalus, Spina Bifida, PKU, Biliary Atresia

Common Pediatric Conditions: Cystic Fibrosis, Hydrocephalus, Spina Bifida, PKU, and Biliary Atresia

Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disorder that affects the respiratory, digestive, and reproductive systems. It is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, leading to a defective CFTR protein. The condition can present with a wide range of clinical features, from a heterogeneous liver on ultrasound to life-threatening gastrointestinal bleeds secondary to portal hypertension. CF liver disease (CFLD) is a stable, non-progressive or mildly progressive condition that affects 5-10% of patients with CF and is the third leading cause of death among patients with CF. Key features include abnormal cholangiocyte function, altered biliary secretion, and an abnormal innate immune response with an abnormal response to endotoxins.

Hydrocephalus

Hydrocephalus is a condition in which excess cerebrospinal fluid accumulates in the brain, causing increased pressure and potentially leading to brain damage. It can be congenital or acquired and can be divided into obstructive and non-obstructive hydrocephalus. Symptoms can include headaches, vomiting, irritability, seizures, and developmental delays. Treatment may involve shunt placement or endoscopic procedures to reduce the pressure.

Spina Bifida

Spina bifida is a neural tube defect that occurs during fetal development. It results in an incomplete closure of the spine, which can lead to neurological issues, such as paralysis, sensory deficits, and bowel and bladder problems. It is typically diagnosed through prenatal ultrasound or newborn screening. Treatment may include surgery, physical therapy, and assistive devices.

PKU

Phenylketonuria (PKU) is an inherited metabolic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase. This results in an accumulation of phenylalanine in the body, which can lead to intellectual disability and other neurological issues if left untreated. Treatment involves maintaining a strict low-phenylalanine diet and, in some cases, supplementation with a medical food or a protein substitute. Early detection and treatment through newborn screening programs are crucial to prevent long-term complications.

Biliary Atresia

Biliary atresia is a rare, life-threatening condition characterized by a congenital absence or severe stenosis of the bile ducts, leading to chronic cholestasis and liver damage. It typically presents within the first few months of life with jaundice, pale stools, and dark urine. Management includes a Kasai procedure, which involves re-routing bile flow from the liver to the small intestine, and, in cases of failure, liver transplantation.

Case Report of Biliary Atresia with Cystic Fibrosis

A 2-month-old female with a history of biliary atresia status after Kasai procedure presented with persistent cholestasis and poor growth, suspicious of concurrent cystic fibrosis. Genetic testing revealed two rare cystic fibrosis transmembrane conductance regulator mutations, supporting the diagnosis of both conditions. The patient's persistent neonatal cholestasis and failure to thrive could be due to the natural course of biliary atresia, but the persistent cholestasis was also attributed to pancreatic insufficiency from cystic fibrosis-related disease, as evidenced by low fecal elastase and improved weight gain after starting pancreatic enzyme replacement therapy.