PCS Pediatric Conditions and Diagnoses Flashcards

Cystic fibrosis primarily affects which body systems in pediatric patients?

Answer: Pulmonary and gastrointestinal systems

CF causes thick mucus accumulation predominantly in the lungs and digestive tract, leading to respiratory failure and malabsorption.

Which type of traumatic brain injury in infants results from violent shaking and involves subdural hematoma, retinal hemorrhages, and encephalopathy?

Answer: Abusive head trauma (shaken baby syndrome)

Abusive head trauma (formerly shaken baby syndrome) causes the classic triad of subdural hematoma, retinal hemorrhages, and encephalopathy.

A pediatric specialist working with a child with hydrocephalus should monitor for signs of shunt malfunction, which include:

Answer: Headache, vomiting, irritability, and bulging fontanelle in infants

Shunt malfunction causes increased intracranial pressure, presenting as headache, nausea/vomiting, irritability, and in infants, a bulging fontanelle.

Prader-Willi syndrome is associated with hyperphagia (excessive eating) and is caused by abnormality on which chromosome?

Answer: Chromosome 15

Prader-Willi syndrome results from loss of paternal gene expression on chromosome 15q11-q13.

Which condition is characterized by progressive proximal muscle weakness in children and is confirmed by elevated creatine kinase (CK) levels and muscle biopsy?

Answer: Duchenne muscular dystrophy

DMD presents with progressive proximal weakness, markedly elevated CK, and dystrophin-deficient muscle biopsy findings.

Osteogenesis imperfecta (OI) is caused by a defect in which protein, resulting in brittle bones and frequent fractures?

Answer: Type I collagen

OI results from mutations in COL1A1 or COL1A2 genes encoding type I collagen, which is the primary structural protein in bone.