Case Studies

An 11-day-old, full-term male presents to the emergency department (ED) with a 2-day history of decreased range of motion of his right upper extremity.

A 16-year-old girl presents to the clinic for acne follow-up and mentions that her palms wrinkle significantly after only a few minutes of immersion in water. She is otherwise well and has no significant past medical history.

A previously healthy 4-year-old male, born late preterm by urgent cesarean delivery with an uncomplicated postnatal course, presents to the outpatient clinic for a chief complaint of worsening cough over the past 5 months. He denies current fever, rhinorrhea, shortness of breath, diarrhea, or vomiting. His cough has been worsening in severity and frequency, and mostly occurs during the daytime.

An 8-year-old boy is brought to the office for evaluation of a persistent itchy rash on his extremities, trunk, and face. Although the rash has been present for longer than 3 months, individual skin lesions change from hour to hour and occasionally the rash clears completely only to recur several hours later. He is otherwise healthy with no known allergies, changes in diet, medication use, or recent illness.

A previously healthy 8-year-old boy presents to the dermatology clinic with a progressively worsening elbow rash over the course of the last week. The rash does not itch. He spent the previous weekend sailing on the Chesapeake Bay. His pediatrician prescribed a course of cephalexin as well as a trial of topical antiviral ointment, neither of which improved the rash. The patient denies any other new exposures. 

A 16-year-old male with a history of nephrotic syndrome and gastritis presents to the emergency department (ED) with worsening emesis, diarrhea, and abdominal pain of 3-weeks’ duration.

A 6-day-old, late-preterm male neonate presents to his pediatrician’s office with bilious emesis and is admitted for further evaluation. He was born at 36 weeks and 6 days via spontaneous vaginal delivery to a 23-year-old G4P4 mother with negative serologies, negative antenatal Group B Streptococcus testing, and no significant prenatal events. His stay in the newborn nursery was unremarkable. The neonate is exclusively breastfed, has no history of rectal bleeding, and passed meconium within the first 24 hours.

A 33-year-old female, G3P1011, was transferred from an outside facility at 33 weeks and 6 days gestation for anticipated preterm delivery secondary to preeclampsia. On prenatal ultrasound, her fetus was diagnosed with an omphalocele and delivery was preferred at an institution with a neonatal intensive care unit to manage the infant.

A 7-month-old girl presents to her pediatrician’s office with a 1-week history of fevers and upper respiratory symptoms. What's the diagnosis?

A 5-month-old previously healthy, full-term female presented to a pediatric emergency department with 2 weeks of left leg swelling. Her parents denied any history of trauma, pain, fevers, weight loss, and easy bruising or bleeding, and family history was negative for cancer. The patient had been feeding and eliminating well.

A 12-year-old girl is referred to the office after a routine dilated eye exam shows unusual retinal lesions. The child has been having headaches for the past 2 years that are described as mostly in the vertex with no other associated vomiting symptoms. Headaches are intermittent and usually relieved with ibuprofen.

A 5-month-old Hispanic boy, previously healthy, presents to the emergency department (ED) for 5 days of fever, 3 days of diarrhea and rash, and 2 days of vomiting. He had been diagnosed with acute otitis media by his primary care physician 3 days prior to his presentation and started on amoxicillin. The parents brought their son to the ED because of his persistent fever up to 104°F and decreased oral intake. He has no recent travel and no known sick contacts. His immunizations are up to date and he has never been hospitalized. He was born in the United States, full term with an uncomplicated birth history.

We know you love a diagnostic challenge. Can you crack these 6 puzzling cases?

An 8-year-old girl is admitted to the hospital with complaints of right ear pain, right leg pain, left arm pain, and fever after a week of worsening symptoms.

A 3-week-old female presented to the emergency department with a 3-day history of a progressively enlarging, erythematous, seemingly painful lump on her back.

A 5-month-old Hispanic male presented to the emergency department (ED) at a children’s hospital in the Northeast United States directly from his daycare after caretakers witnessed 2 shaking, seizure-like episodes. The episodes lasted 1 to 2 minutes in the setting of a fever as palpated by the parents.

A 15-year-old female presents to the emergency department of a community hospital with acute onset of duskiness in her left arm.

The father of a healthy 15-year-old girl brings her to the emergency department (ED) for evaluation of blue hands.

A 14-year-old female presents for a wellness visit. On history, she is noted to not have started her menstrual cycle but on physical exam has significant breast and pubic hair development since the age of 10 years.

A 13-year-old boy with poorly controlled type 1 diabetes (T1D) presents to the emergency department (ED) for evaluation of left ear pain and left facial weakness.

A male infant is born and delivery is remarkable for yellow amniotic fluid and a jaundiced infant. Following delivery he is given intensive phototherapy and then develops erythema, which later becomes ecchymosis. What's the diagnosis?

A 16-year-old girl presents to an emergency department (ED) accompanied by her boyfriend to report a 24-hour history of right lower quadrant pain. The pain is associated with midline lower back pain and light vaginal bleeding (1 to 2 tampons per day). She has experienced some nausea but no vomiting.

A 4-month-old girl arrives at the clinic for a well-child visit. Her mother voices concerns about the infant’s poor weight gain, slow feeding habits, and physical delays such as head lag, poor grasp reflex, and rolling over.

After a cesarean delivery at 30 weeks, a 1430-gram premature female neonate was noted to have generalized thick, dark brown scale forming a tight membrane over her entire skin surface. Her mother was a healthy 19-year-old gravida 1 with normal prenatal screening ultrasound and laboratory studies. Family history did not reveal any congenital malformations or genetic disorders.

A 22-month-old African American boy born at 38 weeks by normal vaginal delivery presents to a local hospital from a private pediatric office for failure to thrive. He was seen by his pediatrician until aged 1 month but was lost to follow-up. His delay in walking prompted his mother to reestablish care at age 22 months.

A full-term male infant was born to a 33-year-old gravida 3, para 3 mother. The prenatal course was uncomplicated, without gestational diabetes; the mother received prenatal care at an out-of-state institution. At the delivery, however, the baby was notably macrosomic, with shoulder dystocia and perinatal distress requiring positive pressure ventilation.

A 2-month-old Hispanic girl is transferred by her pediatrician to the emergency department (ED) for evaluation of decreased oral intake, failure to thrive, and large bleeding facial hemangiomas.

A 3-year-old boy presents to the emergency department (ED) with a 1-day history of irritability and listlessness. According to his parents, he was well until the night before when he began to behave abnormally, becoming excessively tired approximately 2 hours after eating dinner. During the night, the boy slept poorly, sporadically awakening with crying followed by brief periods of calmness. The morning of presentation, he was difficult to arouse with intermittent fussiness and reluctance to ambulate.

The mother of a 4-year-old boy, whose family recently emigrated from Haiti, brings him to the pediatric mobile clinic for evaluation of a rash that had begun 11 days earlier as an eruption of vesicular, pruritic papules on the bilateral lower extremities and had spread to the buttocks and medial thighs with sparing of the face. The skin eruption was followed by desquamation of the skin on his palms and soles.

During a routine office visit for mild acute nasal congestion and possible diminished hearing, an isolated, small, pearl-like mass was noted just posterior to the umbo of the left tympanic membrane of a 5-year-old girl.