Growing pains
4 yo
a 9 yo presents with a history of:
- short stature
- absent thumbs
- abnormal radii
- microcephaly
- cafe au lait spots
- dark pigmentation
- renal abnormalities
today he presents with pallor, fatigue, bruising, petechiae and pancytopenia.
what is the most likely diagnosis?
Fanconi anemia
A child presents with:
- Nausea and vomiting
- Abdominal mass and pain in the ileocecal junction area
- Fever
CT scan of the abdomen confirms a mass at the ileocecal junction
What is the most likely diagnosis?
Burkitt lymphoma
Menkes disease is caused by impaired update of what mineral?
Copper
An adolescent boy presents with hyperpigmented, scaly lesions on his chest and back that worsen when he plays football in the hot sun.
What is the most likely diagnosis?
Tinea versicolor
An infant female is able to lift her head to 45 degrees and can lift her head but not her chest, off a table when lying down. Head lag is present when she is pulled to sitting. She has a social smile and coos, but does not smile at a mirror. The palmar grasp and moro reflex are both present.
How old is this child?
2 months
What is the name of the syndrome with the following findings:
- Autosomal recessive
- Neutropenia
- Exocrine pancreatic insufficiency
- Diarrhea
- Short stature
- metaphyseal dysostoses
- recurrent infections
- Failure to thrive
Schwchman-diamond syndrome
Which is the most common posterior fossa tumor of children?
Cerebellar astrocytoma
A patient presents with:
- Marfanoid habitus
- Developmental delay
- Ocular lens dislocation downward and medial
What is the most likely diagnosis?
Homocystinuria
A 15yo who lives on a farm and loves to eat chitterlings presents with an appendicitis-like syndrome.
What organism is most likely responsible if this is not appendicitis?
A young child understands at least 50 words and follows simple commands. He often points at and identifies an object, is able to name several body parts, and has just started to use several 2-word sentences. When he is with other children he parallel plays.
How old is this child?
18 months
What syndrome presents with the following findings:
- Severe thrombocytopenia
- Small plateles
- Eczema
- Immunodeficiency
- X-linked
Wiskott-Aldrich syndrome
What is the most common soft tissue tumor of childhood?
Rhabdomyosarcoma
A patient presents with:
- Elevated plasma ammonia
- Low BUN
- Respiratory Alkalosis
What general class of metabolic disorders is the most likely diagnosis?
Urea cycle defect
A 2-month-old born vaginally presents with
- no fever
- staccato cough
- CXR evidence of PNA
what is the most likely etiology of the infant's PNA?
Chlamydia trachomatis
A young girl can run well and go up and down stairs using 2 feet on each step. She will sometimes jump off the ground with 2 feet up. She has used a cup and spoon well for several months. She can stack up to 6 blocks.How old is this child?
2 years old
A 7 month old presents with:
- Thumb anomalies
- shorts stature
- short, webbed neck
- congenital heart disease
- Intellectual disability
What is the most likely diagnosis?
Diamond-blackfan anemia (congenital hypoplastic anemia)
a 15yo boy presents with history of injury to his left thigh with subsequent:
- pain and swelling over the metaphyses of his left femur
- nighttime awakening
- palpable mass
- "sunburst" pattern on x-ray
What is the most likely diagnosis?
Osteosarcoma
An 18yo presents with:
- exercise-induced muscle cramps
- increasing exercise intolerance
- burgandy-colored urine after exercise
- CPK that is elevated at rest and increases after exercise
- elevated ammonia after exercise
What is the most likely diagnosis?
McArdle disease (type 5 glycogen storage disease)
A 2yo day care attendee presents with:
- Fever
- Vomiting
- Bloody diarrhea
- new tonic-clonic seizure
- Rectal prolapse
- elevated WBC with significant bandemia
What is the most likely etiology?
Shigella
A young girl can:
- Run well and climb up and down stairs, 2 feet each step
- Balance on 1 foot for 2-3 seconds
- Dress herself (except buttons in the back)
- Use 3-word sentences
She cannot:
- hop on 1 foot
- use 4-word sentences
- skip
What is her likely age?
3 years[
what syndrome presents with the following findings:
- Autosomal recessive
- Macrothrombocytopenia with giant platelets
- platelets do not aggregate to ristocetin, but do aggregate in response to adenosine diphosphate, epinephrine and collagen
a 15yo male presents with:
- Fever
- Weight loss
- Rib pain
- Primary lytic lesion with "onion skinning" of the diaphysis of the right femur on x-ray
What is the most likely diagnosis?
Ewing Sarcoma
An infant presents with encephalopathy and you notice the odor of "sweaty feet"
What is the most likely diagnosis?
Isovaleric acidemia
how many mm of induration are considered positive for TST in a 3yo without any risk factors?
more than or equal to 10mm