Peds Shelf

Front 1

Name causes of direct hyperbillirubinemia

Back 1

biliary atresia, sepsis, urinary tract infection, galactosemia (and other metabolic diseases), cystic fibrosis, alpha-1-antitrypsin deficiency, hypothyroidism, choledochal cyst, Dubin-Johnson, Rotor's syndrome, infectious hepatitis, TPN cholestasis, Alagille syndrome, congenital infection (ex. CMV), idiopathic neonatal hepatitis

Front 2

You are seeing a 2 ½ month old baby boy in your continuity clinic. They have moved from New York and are coming to you for the first time. As you enter the room, it is immediately evident that he has significant jaundice. Although you do not have his medical records, his mother tells you that the pregnancy was uncomplicated, and his birth without significant events. She tells you that he was yellow early in life, but was told that this was normal and would go away with time. When he had his 2-week visit, she was told that everything was fine.

Upon further questioning, you learn that his stools have been whitish in color since birth. ("Isn't that normal ?" she asks) Lately, his mother has noticed that he has been scratching himself constantly, and just yesterday she found bumps on his buttocks and knees. Pertinent physical exam findings include: height <3%, weight <3%, with head circumference 25%. He is happy and well-appearing except for jaundice throughout his body and prominent scleral icterus. On the buttocks and knees are multiple papules that are yellowish-white in color. Cardiac exam reveals a murmur. His face has a broad forehead and pointed chin. His eyes are deep-set with some hypertelorism, and his nose is small and straight.


Diagnosis?

Back 2

Alagille syndrome

Front 3

Alagille syndrome - what defect in liver

Back 3

paucity of bile ducts

Front 4

Child with Alagille syndrome - what murmur does he likely have

Back 4

peripheral pulmonic stenosis

Front 5

Child with Alagille syndrome has papules on buttocks and knees - what are they

Back 5

xanthomas from hypercholesterolemia

Front 6

Child with Alagille syndrome - what do you see on x ray

Back 6

Butterfly vertebral bodies

Front 7

16 year old female with delayed growth. Her cardiac exam reveals reduced femoral pulses, and decreased lower extremity blood pressures when compared to the upper extremities. What kind of cardiac defect does she have?

Back 7

Coarctation of aorta

Front 8

16 year old girl with Turners - what do you see on x ray

Back 8

rib notching, indented aorta

Front 9

Why do kids with Turners have webbed neck

Back 9

In utero they have cystic hygromas (lymphedema of the neck due to poor drainage). when they resolve, extra skin folds (webbed neck) are left behind.

Front 10

broad "shield" chest with widely spaced nipples

Back 10

Turners

Front 11

It's Friday afternoon in your continuity clinic. Your next patient is a 6-year-old boy who's never been to PCC before. Looking at the vital signs before you enter the room you notice that his height and weight are less than the fifth percentile. On entering the exam room you see the child sitting in the chair next to the computer and his aunt sitting across the room. You introduce yourself and notice that the child has impaired speech when he answers your questions. On further questioning the aunt reveals that she has only had custody of the child for a few months and that she knows he has "some kind of
genetic problem that makes him not walk very well and he gets a lot of lung infections." She also reveals that his mother, who lives in New Jersey, is undergoing chemotherapy for breast cancer.

You ask the child to hop up on the exam table and when he walks over he appears stooped over and has trouble navigating the short distance to the table. You have to lift him up onto the top. His physical exam is remarkable for nystagmus, significant injection of the bulbar conjunctiva, a telangectasia to the left of the bridge of his nose, and diffuse rhonchi on pulmonary exam. He also has kyphoscoliosis and you can not elicit any reflexes.


Diagnosis

Back 11

Ataxia-Telangectasia. Most children die in late childhood from pulmonary complications

Front 12

Ataxia-telangiectasia - what is the genetic defect, inheritance?

Back 12

Microdeletion at 11q22.3, autosomal recessive

Front 13

Kids with ataxia-telangiectasia susceptible to CA - which one?

Back 13

Lymphoreticular malignancy. The deletion associated with this syndrome produces a mutated form of ATM, which plays a role in recognizing and repairing damaged DNA.

Front 14

Chvosteks sign - sign of what

Back 14

Hypocalcemia

Front 15

Di George syndrome - what cardiac defect associated with

Back 15

Tetralogy of Fallot