Pediatrics Flashcards
(28 cards)
Most common cardiac defect in Down Syndrome…
AV canal
Individuals with Down Syndrome are at increased risk for which type of cancer?
ALL
Which genetic disease is associated with rocker bottom feet, micrognathia, clenched hands, CHD, and sometimes horseshoe kidneys?
Edwards Syndrome (T18)
Which genetic disease is associated with microphthalmia, microcephaly, cleft palate, holoprosencephaly, polydactyly, CHD, and omphalocele?
Patau Syndrome (T13)
Genetics of a very tall male with testicular atrophy, gynecomastia, and female hair distribution?
47 XXY
Genetics of a short female with a webbed neck and coarctation of the aorta.
45 XO
What amino acid becomes essential in individuals with PKU?
Tyrosine
How do kids with PKU present?
Infancy/early childhood
Intellectual disability
Fair hair/skin, blue eyes, eczema, musty urine odor
How do individuals with Fragile X Syndrome present?
Intellectual Disability
Large jaw, large testes, autistic behaviors
A 4 year old is brought in by his parents due to episodes of worsening pain in his hands and feet. On exam you note multiple angiokeratomas on his skin. Optical exam reveals corneal and lenticular opacities. What disease do you suspect?
Fabry Disease
Which of is the following is not a feature of Fabry Disease?
GI problems, hepatomegaly, angiokeratomas, renal disease, cardiomyopathy
Hepatomegaly
You have diagnosed a patient with a deficiency of alpha-galactosidase A, what is the substance that will accumulate in their organ(s) to cause the features of their disease? Which organ(s) will be affected?
Ceramide trihexoside
Brain, kidneys, heart
You have diagnosed a patient with a deficiency of galactosylceramide and galactoside, what is the substance that will accumulate in their organ(s) to cause the features of their disease? Which organ(s) will be affected?
Galactocerebroside
Brain
A 2 year old patient recently died. She had been developing normally until 2.5 months of age, when she started to develop irritability and increased muscle tone that progressed to spasticity, loss of motor control, blindness, and seizures. What disease did she likely have?
Krabbe Disease
You have diagnosed a patient with a deficiency of glucocerebrosidase (acid beta-glycosidase), what is the substance that will accumulate in their organ(s) to cause the features of their disease? Which organ(s) will be affected?
Glucocerebroside
Brain, liver, spleen, bone marrow
Your 19 year old patient undergoes BM biopsy as part of a work up for splenomegaly and easy bruising. This reveals macrophages with crumpled tissue paper appearance of their cytoplasm. What disease does he likely have?
Gaucher disease
An infant noted to have increased tone at birth has been followed for FTT and then develops seizures and stridor. On exam you appreciate hepatosplenomegaly. What disease do you consider?
Gaucher disease
You are seeing a 6 month old for a well child check and parents note that since their 4 month well visit, their baby has been more irritable and feeding has been more difficult. She has dropped from the 50th percentile to the 20th for weight. On exam you note she is somewhat hypotonic, there is hepatosplenomegaly, and ophthalmic exam reveals a red macula. What disease do you expect?
Niemann Pick disease
Sphingomyelinase deficiency
At a 6 month well check, parents mention that their baby boy seems to startle very easily lately. At follow up two months later this seems to be worse and they’ve also noticed that he makes less eye contact and had some “weird movements of his eyes.” On exam you note some spasticity and on ophthalmic exam you see a cherry red macula. What disease do you suspect?
Tay-Sachs Disease
At a 6 month well check, parents mention that their baby boy seems to startle very easily lately. At follow up two months later this seems to be worse and they’ve also noticed that he makes less eye contact and had some “weird movements of his eyes.” On exam you note some spasticity and on ophthalmic exam you see a cherry red macula. What enzyme is this infant deficient in?
Hexosaminidase
You have diagnosed a patient with a deficiency of arylsulfatase A, what is the substance that will accumulate in their organ(s) to cause the features of their disease? Which organ(s) will be affected?
Sulfatide
Brain, kidney, liver, peripheral nerves
A little girl with ID and gargoyle facies is seen for a well child check. She has corneal clouding. What disease does she likely have?
Hurler Syndrome
A little girl with ID and gargoyle facies is seen for a well child check. She has corneal clouding. What enzyme is she deficient in?
Alpha-L-iduronidase
A little boy with mild ID and gargoyle facies presents to clinic for a well check. Exam is otherwise benign, including ophthalmic exam. What disease does he likely have?
Hunter Syndrome
