Fall

Challenge: When does this go away?

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Vessel

This vessel starts at the junction of the left subclavian and left internal jugular veins, passes lateral to the aortic arch, and drains into the right atrium via the coronary sinus.

Challenge: What is this rare anomalous vessel?

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Musculoskeletal I

This child's deformities involve the proximal bones more than the distal ones. He also has macrocephaly and midface hypoplasia.

Challenge: What autosomal dominant disorder is seen here?

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Biochemistry

Uh oh, it's the glycogen metabolism pathway.

The classic infantile form of this disease presents in the first few months of life with cardiomyopathy and severe generalized muscular hypotonia. At the median presentation age of four months, infants will have cardiomegaly, respiratory distress, muscle weakness, feeding disorders, and failure to thrive. Standard metabolic labs will be normal, but serum creatine kinase will be elevated.

A late onset juvenile or adult form presents without cardiac problems. The age of presentation varies, but the presentation is primarily skeletal myopathy eventually leading to respiratory failure. Children might present with delayed gross motor development, and adults might present with progressive limb girdle weakness (starting with hip flexors). Creatine kinase will be elevated as well.

Challenge: What autosomal recessive disease is this?

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Sounds Like a Magic Spell

Sorry for the late post - my call was busier than I expected.

That's one large boggy pustule on the scalp. It's tender and painful. It's seen mostly in children ages 5-10. Persistent disease can lead to alopecia.

Challenge: What is it?

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Dough

"so went Satan forth from the presence of the Lord and smote Job with sore boils from the sole of his foot unto his crown"

Ever since this patient was a child, he's had skin problems. In his first few weeks of life, he had a papulopustular crusted rash on his face, scalp, upper trunk, and buttocks. He was diagnosed with atopic dermatitis. He didn't have any wheezing, food allergies, or hayfever, though, and there's no family history of atopic dermatitis. He's also had lots of skin infections, including abscesses, furuncles, cellulitis, and lymphadenitis. Oddly enough, sometimes he has infections that lack classic signs of inflammation; they don't always manifest with erythema, warmth, or tenderness.

His other medical problems include recurrent sinus and middle ear infections. He's had pneumonia once requiring hospitalization. He's had weird teeth; he kept his primary teeth leading to two rows of teeth. This was later corrected by a dentist. He has scoliosis. He's had a few orthopedic surgeries for fractures from minor trauma.

Challenge: What's your diagnosis?

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The Nose Knows

Challenge: What is it?

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Tick Tock

This rash occurred in an 8 year old child who was traveling around the United States with his family. He presented with fever, headache, malaise, myalgias, and arthralgias. He also complained of abdominal pain, but ultrasound ruled out appendicitis. This rash developed about three days after the onset of the other symptoms. The rash is blanchable and began at the wrists and ankles. You also note some pedal edema. There is no meningismus. The CBC shows a normal white blood cell count, but thrombocytopenia. Sodium is on the low side. Blood cultures are negative.

Challenge: Time's running out...What's your diagnosis?

Normal

As you review this EKG, you note the T-wave inversions in leads V1-V3, the vertical QRS axis (+90 degrees), and the early precordial transition.

Challenge: These findings are normal for what kind of patient?

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Kiss and Tell

This is a peripheral blood smear from an adolescent presenting with malaise, headaches, fever, and sore throat.

Challenge: What do you expect to find on the neck exam?

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Refresher IV

This disease represents the rule of 2's: it occurs in 2% of the population, the male:female prevalence is 2:1; it occurs within 2 feet of the ileocecal valve, and it can be two inches in length.

Challenge: What is the diagnosis?

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Holy Fire

I apologize there was no Monday case this week.

A 10 year old child with a history of eczema presents with a rash on his leg. He scratches that leg quite a bit and scrapes it like any ten year old does. But this is the first time he's had anything this severe. It developed quite quickly and is accompanied by fevers and chills. Note that the lesion is very well demarcated and it is raised compared to the surrounding skin.

Challenge: What is the diagnosis?

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Counting

A 10 year old boy is brought in by his parents because of behavioral problems leading to poor grades at school. He says he has uncontrollable persistent thoughts about how his possessions at school are out of order or messy. He constantly counts and checks them and refuses to interact with anyone else while he does so. He also hoards candies, action figurines, and erasers. Attempts to convince him not to do these activities don't work; he says there are "rules he must follow." His parents both have anxiety. One sister has ADHD. A brother has autism.

Challenge: What's the most likely diagnosis?

Spire

Challenge: What does this child have?

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Scary

Too bad I missed Halloween. But here's a related case.

A preschool-aged child is brought in by his parents who worry about behaviors in his sleep. During the early part of the night, he often awakes abruptly with a loud scream. He is agitated, flushed, sweating, and tachycardic. Once, he even jumped out of bed. When his parents try to calm him, he apparently is unaware. He doesn't remember these episodes afterwards. His past medical history includes a work-up for obstructive sleep apnea; he is being evaluated by an otolaryngologist for potential tonsillectomy.

Challenge: What is going on here?

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Teenagers (Sigh)

A high school football player gets in trouble for tackling players head-on. On lateral view of the neck in neutral alignment, you note developmental narrowing of the cervical spine canal as well as straightening of the normal cervical lordotic curve.

Challenge: What is this injury, first described in 1993?

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Everything but the Kitchen Sink

This is a poor child in a developing country. He gets recurrent infections because of a depressed immune system. He has impaired taste and smell as well as diarrhea. He has a bullous pustular rash. If untreated, he may develop night blindness, alopecia, and decreased spermatogenesis. The treatment, though, is fairly easy.

Challenge: What's he missing?

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Big Cat

This adolescent girl started developing these spots during infancy and early childhood. They mostly involve the face, upper trunk, and neck. These were expected since she has some characteristic facial features of a particular syndrome, with abnormally wide set eyes, deafness, and growth retardation. Her astute pediatrician checked an EKG and found conduction abnormalities. A subsequent echocardiogram showed pulmonic stenosis.

Challenge: What's this autosomal dominant disease?

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The Only Word Kids Dread More Than "Shots"

Visiting friends in Germany, I was asked to consult on the case of a two year old toddler who fell while trying to climb stairs too fast.

Child 1 has this image:

Child 2 has this image:

Challenge: Which, if any (or both) child needs to see a dentist?

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Too Young

A newborn infant is brought to your attention within 24 hours post delivery because of failure to thrive. The mother notes excessive sweating, sneezing, fever, nasal stuffiness, and yawning. He has a high pitched cry, irritability, sleep and wake disturbances, hyperactive primitive reflexes, hypertonicity, and tremors. His feeding is poor. He has some vomiting and loose stools.

His labs including glucose are normal. His sepsis workup is negative. Thyroid studies are unremarkable.

Challenge: What can you tell me abut the mother's social history?