Neonate
0-1 month
Infant
1 month - 1 year
Young Child
1 yr - 4 yr
old child
5 yr - 10-yr
adolescent
11- 19 yr
General evaluation for the DC with a pedi patient
- measuring vitals
- determine neurological growth
- looking for signs of abuse
- screening for visions ( age 3-4)
what is the average age of death for Trisomy 21
55 due to cardiac issues
List some common characteristics with Trisomy 21
- occurs 1/ 800 births
- mental retardation
- wide fixed. low bridged nose
slanted eyes with epicanthus - Macroglossia
-short limbs
simian crease across palms - clinodactyly ( fifth finger shorter and crooked)
- heart defects
- atresia and stenosis
-infertility - predisposed to leukemia
Turner’s syndrome
- abnormal segregation pf sex chromosome
- short statue
- increased values angle at elbows
- webbed neck
- barrel chest
- coarctation of the aorta
- normal female organs except “streaked” ovaries and girls do not develop secondary sex characteristics( usually infertile)
Klinefelter’s syndrome
Trisomy of sex chromosome ( 47 XXY)
- occurs 1/700 births
- occurs in boys and infertile
- puberty does not develop
- small penis, scant pubes
- generally tall and possible enlargement breasts appearance
Marfan’s syndrome
- Scoliosis and kyphosis
- subluxation of the lens of the eye
- occurs in 1/ 10,000 births
- dysfunction of the gene that codes for fibrillar (cognitive tissue protein)
- tall, slender statue with elongated head (doliocephalic)
- prominent frontal boss elation
- aortic aneurysm
- valvular insufficiency
- cataracts
-
osteogenesis imperfecta is characterized by abnormal _________
maturation of collagen due to ATPase enzyme deficiency
what are some clinical features of osteogenesis imperfect
- scoliosis
- fragility of the skeleton
- blue sclera
- abnormal dentition
- fractures
- bowing of extremities
dislocations - basilar impression
- ligamentous laxity
- deafness
what is the onset age for Huntington’s disease
30 to 40 years
Cystic Fibrosis seen primarily in _______
caucasians
what type of test is positive in cystic fibrosis
pilocarpine test
what are some characteristics with cystic fibrosis
- 1/2500 births
- they have more glandular secretions from all exocrine glands
- can lead to obstruction in pancreas, bronchi and intestines
what is the primary concern with cystic fibrosis
accumulation of mucus that makes breathing difficult and allows for development of bronchiatisis and development of infections
what is the pilocarpine test .. testing for ?
tests the sweat for increased salt content
Sickle cell anemia death is usually due to what
infection
pulmonary infection
renal failure
Sickle cell affects ___% blacks in the US
0.3 %
Life expectancy for sickle cell anemia
greater than 50 years
what are some common things with sickle cell anemia
- hepatosplenomegaly
- growth retardation
- prone to infections
- bone infarcts that leads to severe pain in hands feet and lower leg
- ## abdominal pain
PKU if undetected leads to
mental retardation
PKU is an ___ defect that involves metabolizes phenyl aline to tyrosine
enzyme phenylalanine hydroxylase PAH
what is the result of PKU
accumulation of phenylalanine in the blood and tissues which leads to phenyl pyretic acid excreted in urine
Hemophilia ___ is always more severe
B
_____ is common in Hemophilia
hemoarthrosis
Hemophilia is what
a bleeding disorder due to a defected gene
Coagulation factor VIII is _____
hemophilia A is most common and can be moderate or severe
coagulation factor IX is ____
hemophilia B and more rare but always severe
Thalassemia
- may be alpha or beta trait
- results in microcytosis out of proportion to anemia
- patients are mild anemic
Beta traits of thalassemia
mediterranean or chinese descent
usually require bone marrow transplant
alpha trait thalassemia
southeast asia or china
Polycystic kidney disease
occurs 1 in 400 to 1 in 1,000 birds
- cyst are developed in kidney and liver (mc)
- Spleen and and pancreas least common
- CNS arachnoid
T/F
Leukemia is the most common malignancy in children between ages 5-15
false
most common in ages 2-10 with peak onset at 4
leukemia is mc in ___
boys
what are the signs and symptoms
hepatsplenomegaly fatigue - bone pain - easily bruised - puprura - fever - lymphadenaphty - testicular enlargement -
Lab testing for leukemia usually shows____
at least one cell type deficiency
white blood cell count above ____ is a strong indicator of leukemia
50,000
radiographic findings of leukemia are:
- osteopenia
- radiolucent metaphysical bands
new periosteal formation - osteosclerosis
bone destruction
chest vies may show mediastinal mass
which is the most common leukemia
Acute lymphoblastic leukemia (ALL)
____ is the poorest prognosis leukemia
Acute myelogenous leukemia (AML)
what is the tx of choice for leukemia
chemotherapy
what is the best prognosis for leukemia
dx b/w ages 3 and 7 years
total WBC count of 25,00 or less with no CNS involvement
overall cure rats for ALL is ___ %
75
T/F
girls have more favorable prognosis than boys
true
25 % to 30% of all childhood cancers are found in ____
CNS
age onset for brain tumors are
5 to 10 yrs
signs and symptoms for brain tumors in kids
headaches nausea vomitting seizures cranial nerve dysfunction cerebellar signs delayed puberty
one-half of pediatric brain tumors occur above the ____ and the other half in the _____
tentorium
posterior fossa
most common type of brain tumor
astrocytoma
the ten year survival rate for surgical intervention with brain tumors are what
80% , astrocytomas carry a less than 25% two year survival rate
60% of hodgkin’s lymphoma occurs in children ____ to ___ years old
10 to 16
patient with early stages at time of tx have ____ five year survival rate
85 yo 90%
more advanced has 50 to 80 %
signs and symptoms of Hodgkin’s lymphoma
- fatigue
- fever
- chronic cough
- night sweats
- weight loss
- painless cervical lymphadenopathy
- mediastinal mass in 50%
pathonmeomic for Hodkgin’s
reed stein burg cells ( CBC is often normal)
Non- Hodkin’s occur normally in ages ____
15 and up
non - hodgkin’s account for _____ of childhood malignancies
7 to 13%
Signs and symptom’s for non hodgkin’s
loss of appetite - abdominal pain - hepatosplenomegealy - lymphadenopathy - fever - chills night sweats pathologic fx
_________ is the most common solid neoplasm outside the CNS
neuroblastoma (7% to 10%)
neuroblastoma occurs ____ % before age 2 and ___ before are 5
- -50
- 90
signs and symptoms of neuroblastoma
fever weight loss failure to thrive bone pain abdominal pain swelling around eyes bowel and bladder dysfunction
radiographically signs and symptoms of neuroblastoma
- widened skull sutures with sunburst apiculations and diffuse osteolytic lesions
AKA for Wilm’s tumor
nephroblastoma
what is film’s tumor
tumor of the kidney seen in kids under 5
signs and symptoms for film’s tumor
abdominal mass fever anorexia hematuria hypertension
what is used to diagnose film’s tumor
US and CT of abdomen
Neurofibromatosis type 1
“””””””” type 2
von Recklinghausens disease
acoustic neuroma’s
neurofibromatosis common in what age
over 20
Os acrominale occurs in what age
before 22
what is the cause of os acrominale
- incomplete fusion of the secondary ossification centers which may cause the deltoid to pull on the ununited fragment may cause rotator cuff spur or tear
Acromial apophysitis occurs with what age
before 19
with acromail apohytisits the ossification centers are _____
normal but are irritated due repetitive traction by the deltoid attachment
Coracoid apophysitis occurs with what ages
before 21
with little league shoulder healing is usually complete with _____ weeks of rest
4- 6 weeks
failure of migration of the mesenchyme during fetal growth results in a congenital elevation of the scapula
sprengel’s deformity
___ percent of spregnel’s deformity are unilateral
70
the most common fracture during delivery
clavicular fracture
the ___ side is fractured more often with clavicle fractures
left
ages for Osteochondritis dissecans
13-16
Panner’s disease mc in what ages
4-12