OSTEOGENESIS

IMPERFECTA

CASE PRESENTATION


INTRODUCTION:

We have chosen a case of
Osteogenesis Imperfecta because of
its rarity. Aside from the fact that it is
a congenital disorder, there is also no
known treatment for the said disease.
Osteogenesis imperfecta (OI) is a
genetic disorder characterized by
bones that break easily, often from
little or no apparent cause. Abnormal
collagen composition leads to
brittleness, thus causing the
incidences of fracture higher than
average.


A classification system of
different types of OI is commonly
used to help describe how severely a
person with OI is affected.
Prevalence of OI has shown that
6-7 per 100,000 people are affected by
osteogenesis imperfecta worldwide.
Osteogenesis imperfecta is listed as a
"rare disease" by the Office of Rare
Diseases (ORD) of the National
Institutes of Health (NIH).

PERSONAL DATA













Personal Data


Name: J.M.E
Age: 13y/o
Date of Birth: April 20, 1996
Birthplace: Sorsogon
Address: 103 Arligue St. Quiapo , Manila
Sex: Male
Religion: Roman Catholic
Nationality: Filipino
Date of admission: November 5, 2009


History of
Present Illness
History of Present Illness

JME came in due to severe pain of
the right thigh from the moment he fell
in a hole until he was brought to
Philippine Orthopedic Center; he
experienced pain every time he moves
his leg. Prior to admission, the patient
was walking home from school at 1:00
in the afternoon; he apparently stepped
in an open manhole and fell down. He
was brought by his father to Philippine
Orthopedic Center immediately and
was admitted.
Past History

No known allergies to drugs
and foods. Patient JME is fully
immunized. He received 1 dose
of BCG, 3 doses of DPT, 3 doses
of OPV, 3 doses of Hepa B and 1
dose of AMV.
He had 3 previous
hospitalizations.


His first hospitalization was
last 2005 when he was 9 y/o at
Sorsogon Provincial Hospital.
The cause of his hospitalization
was when he fell down in a 4ft
tall niche. He was admitted at
Sorsogon Provincial Hospital
and was seen by Dr. De Castro.
He was fitted with 1 Hip Spica
due to affection in his right
femur and hips
A year and a half after his first
hospitalization, he was rushed to the
Gubat Hospital due to seizure
episodes secondary to Tetanus. He
had stepped on a broken glass while
walking along the seashore. He
immediately washed it with
seawater. After 3 days, he developed
seizures without any accompanying
signs and symptoms. He was given 2
vials of anti-tetanus.


When he was 11 y/o, he was
hospitalized for the third time
when he slipped on a slippery
surface in their home. He was
brought to POC where he was
examined by Dr. Sy and was
diagnosed with Osteogenesis
Imperfecta.
Family History

Family History

Patient JME has a 39 year
old father and a 40 year old
mother. JME is the 6
th
child.
His father is a smoker and
always drinks alcohol while
his mother has only just
started to smoke. There is no
heredofamilial disease.

Psychosocial
History

JME is a Grade 4 student from
Mabini Elementary School and tells
us of having no friend and not good
social network. Hobbies include
going out and reading books. His
considered problems are
schoolworks such as projects and
assignments and copes up with
stress by sleeping.
Of his parents he is more
attached to his mother and he
considers his mother as a support
person.


Activities of
Daily Living


Activities of Daily Living

Activity Before
Hospitalization
During
Hospitalization
Analysis
Fluid &
Nutrition
>Drinks 10 glasses
of water/day
>drinks softdrinks
(coke) and juice
(occasionally) but
prefers water
>prefers vegetables
than meat
>eats 3x a day
(breakfast, lunch,
dinner
>doesnt take any
vitamins
>consumes 1 cup
of rice with moderate
viand
>drinks 5 glasses of
water/day
>eats 3x a day
>still prefers to eat
vegetables than meat
>doesnt take any
vitamins
>consumes 1 cup of
rice, depending on
what kind of viand
>on DAT
>no IVF
>His activities are
limited, leading to
less consumption of
energy, then to a
feeling of full
appetite. With this
feeling, his appetite
and nutrition is
decreased.

Activities of Daily Living

Elimination
(Bowel and
Bladder)
>voids at least 4 times a
day and defecates at
least once a day.
>voids at least 4 times a
day and defecates every
other day.
>with his limited
activities, his
peristaltic movement
is decreased thus
slowing down bowel
movement, and since
he is in ward, he
cannot defecate with
lack of privacy. His
urine elimination is
normal.
Rest and Sleep >during schooldays, he
sleeps from 8pm to 5am
>after school, he sleeps
for 2 hrs. (2 4 pm)
>during weekends, he
sleeps from 9:30pm to
7:00 am
>he sleeps most of the
time. When he doesnt
have anything to do, he
just takes a nap.
>Consumes at least 10hrs.
of sleep at night.
>confined to the bed,
JME has no choice but
to stay in bed.

Activities of Daily Living

Activity and
Exercise
>goes to school from
Monday to Friday
>typical student that
does everything needed
in school
>plays with classmates
every breaktime
>doesnt do any exerise
> spends most the time at
the orthopedic bed
>bed rest
>no exercises instructed
by the doctor
>he cannot do much,
even exercise and in
his condition with OI,
his bone are still
fragile and is at risk for
more injuries.

Oral and Personal
Hygiene
>bathes twice a day
>brushes his teeth 3x a
day after each meal
>changes clothes every
time he takes a bath and
if necessary
> takes a bath thrice a
week
>Brushes his teeth 2x a
day every morning and
before sleeping
>he lacks privacy, and
since hes in a balanced
skeletal traction, he
cannot clean himself,
especially when his
mother is away. He
relies instead on the
nursing student to
clean him.
Physical
Assessment

Physical Assessment
General Survey:

Patient JME is a 13 year old, brown skinned,
male with a short stature and very thin
body. He is on BST of the right leg with
fracture of the right middle 3
rd
femur.

Vital Signs: T- 36.7C PR- 71bpm RR- 25cpm
BODY PART TECHNIQUE
USED
NORMAL
FINDINGS
ACTUAL
FINDINGS
ANALYSIS
HEAD
-Skull








-Hair and scalp





-Eyes


Inspection
Palpation







Inspection
Palpation




Inspection

Proportional to
body size, round,
prominent in
frontal area,
symmetrical in all
planes, gently
curved,
normocephalic

Hair smooth, shiny
and thick; Scalp free
of infections and
infestations.


Parallel, evenly
placed; symmetric,
non-protruding, no
discharges, white
sclera.

Slightly large to
body size, with
prominent frontal
area, slightly
triangular in shape.




Dark brown, thick
and evenly
distributed hair;
Scalp free of
infestations and
lesions.
Slightly big, round
eyes; grayish sclera;
no discharges; no
signs of infection;
strabismus.

Since there is low
quality of collagen,
the skull can be
easily molded and
influenced
especially on how
he sleeps sign of
OI

Normal





Strabismus;
Grayish sclera and
strabismus caused
by lacking collagen
supply. sign of OI
- Ears and Hearing









- Nose




-Mouth

Inspection









Inspection




Inspection
Parallel,
symmetrical, bean
shaped, helix in line
with canthus of eye,
skin same with
surrounding area,
clean; Able to hear
whisper spoken 2
feet away.

In midline,
symmetric, patent,
no difficulty in
breathing.

Smooth, moist,
symmetric lips;
Gums pink, free
from discharge and
swelling; complete,
well-aligned teeth,
free from carries;
Pink or red tongue,
rough on top smooth
on sides.
Parallel,
symmetrical, in line
with canthus of eye,
slightly big and
fanning;cerumen
present; unable to
hear whisper spoken
2 feet away; with
cerumen.

In midline, no
difficulty of
breathing, no
discharge.

Pink, moist lips; Pink
gums; Severely
misaligned teeth.
Slight hearing loss
probably because of
cerumen or
otosclerosis. sign
of OI






Normal



Dentogenesis
Imperfecta Sign of
OI.
NECK Inspection Proportion to body
and head, symmetric,
no lumps, no
tenderness, straight,
movable w/o
difficulty.
Proportional, straight,
without lumps or
masses, movable.
normal
UPPER
EXTREMITIES
Inspection
Palpation
Clean, no lesion,
complete fingers,
symmetrical, no
abnormalities, no
tenderness, smooth
contour.
Thin, with slight
deformity, prominent,
flexible joints; scars
on the hands; fingers
are too long for the
hands
Since collagen is of
low quality, the bones
can be flexed and
easily deformed, in
the case of the
fingers, it is stretched.
CHEST and BACK Inspection
Palpation
Auscultation
No discoloration, no
lumps, symmetric
chest; normal breath
sounds, no
retractions; normal
heart sounds.
Barrel chest, no
retractions, normal
breath sounds,
normal heart sounds;
lateral spine
curvature to the left.
Since collagen is of
low quality, the spine
is easily deformed
thus leading to spinal
curvature.

ABDOMEN Inspection
Palpation
Auscultation
Uniform color; no
lesions, no
tenderness;
symmetric; centered
umbilicus;; normal
heart sounds; normal
bowel sounds.
symmetric, round
contour; normoactive
bowel sounds; no
palpated mass nor
lumps; no scars;
centered umbilicus
normal
LOWER
EXTREMITIES
Inspection
Palpation
Equal, variable hair
distribution; no
lesions and
varicosities;
complete nails;
normal; smooth,
moist skin contours
and equally toned
Thin, symmetric;
prominent knee
joints; flexible joints;
deformed; dry skin
with several scars
and lesions; inserted
Steinmanns pin on
right leg, with small
amount of pus on
insertion site and
inflammation
Since collagen is of
low quality, the
bones can be easily
deformed and can be
easily flexed; pus is a
positive sign of
infection; lesions
caused by poor
hygiene.
Diagnostic Test

ACTUAL FINDINGS NORMAL VALUES Analysis
Hemoglobin Mass 145 127-183 g/L Normal
Hematocrit 0.42 0.37-0.54 Normal
Leukocyte 5.8 4.5-10x10 g/L Normal
DIFFERENTIAL
COUNT
Lymphocytes 0.29 0.2-0.4 Normal
Monocyte 0.04 0-0.07 Normal
Eosinophils 0.01 0-0.05 Normal
Platelet Count 309 150-400x10^g/L Normal
COAGULATION
STUDIES
Prothrombin Time 14.3 11-15 secs Normal
I/O activity 92.2
INR 1.07
Activated PTT 38.0 22-45 secs Normal
Blood Type O
RH Typing Postive (+)
HEMATOLOGY
CRP:
Peripheral Smear CRP-No Reagent
Component
Indices
MCV 81 82-92 fL Low
MCH 28 28-32 pg Normal
MCHC 35 32-38% Normal
RBC
MORPHOLOGY
ESR Westergren
Method
Children 20 0-10mm/hr High
Clotting Time
(lee & white) 500 5-15 mins Normal
Bleeding Time
(ivys method) 200 1-7 mins Normal
Anatomy and
Physiology

Anatomy and Physiology

FEMUR
The thigh is the region of the femur.
The longest and strongest bone in the
skeleton is almost perfectly cylindrical in the
greater part of its extent. Looking at the back
of the right femur we see the deep ridge that
goes from greater to lesser trochanter. The
greater is the handle for upward pulling hip
abductors (gluteus medius and minimus). The
lesser is the handle for the psoas tendon.
Sitting behind the femoral head, the flexion
action of the psoas is also an outward rotation
force as the lesser trochanter is pulled forward
and upward - spinning and raising the femur.
The distal end of the femur is one of the
four boney parts of the knee. The others are
tibia, patella, and indirectly (by being a
ligament handle) the fibula.

IMPORTANCE OF COLLAGEN

Collagen is the major protein of the
bodys connective tissue. It is part of the
framework that bones are formed around.
The characteristic feature of a typical
protein molecule is its long, stiff, triple-
stranded helical structure in which three
collagen polypeptide chains (called a [alpha]
chains) are wound around each other forming
a rope-like super helix. Collagen is extremely
rich in the amino acids Proline and Glycine.

Collagen is a natural protein that
provides our bodies with structural support.
Twenty-five per cent of the dry protein
weight of the human body is collagen the
fibrous, elastic, connective tissue in our bodies
that holds us together. Seventy-five per cent
of our skin is made up of collagen, providing
texture, resiliency, and shape; and in total
about 30 per cent of our body is collagen. As
you can see its part of the natural make-up of
our tendons, ligaments, joints, muscles, hair,
skin, etc.
Because glycine is the smallest amino acid
with no side-chain, it plays a unique role in fibrous
structural proteins. In collagen, Gly is required at
every third position because the assembly of the
triple helix puts this residue at the interior (axis)
of the helix, where there is no space for a larger
side group than glycines single hydrogen atom.
For the same reason, the rings of the Pro and Hyp
must point outward. These two amino acids help
stabilize the triple helixHyp even more so than
Proa lower concentration of them is required in
animals such as fish, whose body temperatures are
lower than most warm-blooded animals.

Type I
Most common and mildest type of OI.
Bones fracture easily. Most fractures occur before
puberty.
Normal or near-normal stature.
Loose joints and muscle weakness.
Sclera (whites of the eyes) usually have a blue, purple,
or gray tint.
Triangular face.
Tendency toward spinal curvature.
Bone deformity absent or minimal. Brittle teeth
possible.
Hearing loss possible, often beginning in early 20s or
30s.
Collagen structure is normal, but the amount is less
than normal.


Type II
Most severe form.
Frequently lethal at or shortly after birth,
often due to respiratory problems.
Numerous fractures and severe bone
deformity.
Small stature with underdeveloped lungs.
Tinted sclera.
Collagen improperly formed.

Type III
Bones fracture easily. Fractures often present at birth,
and x-rays may reveal healed fractures that occurred
before birth.
Short stature.
Sclera have a blue, purple, or gray tint.
Loose joints and poor muscle development in arms and
legs.
Barrel-shaped rib cage.
Triangular face.
Spinal curvature.
Respiratory problems possible.
Bone deformity, often severe.
Brittle teeth possible.
Hearing loss possible.
Collagen improperly formed.

Type IV
Between Type I and Type III in severity.
Bones fracture easily. Most fractures occur before
puberty.
Shorter than average stature.
Sclera are white or near-white (i.e. normal in color).
Mild to moderate bone deformity.
Tendency toward spinal curvature.
Barrel-shaped rib cage.
Triangular face.
Brittle teeth possible.
Hearing loss possible.
Collagen improperly formed.

Type V
Clinically similar to Type IV in appearance and symptoms of
OI.
A dense band seen on x-rays adjacent to the growth plate of
the long bones.
Unusually large calluses (hypertrophic calluses) at the sites of
fractures or surgical procedures. (A callus is an area of new
bone that is laid down at the fracture site as part of the
healing process.)
Calcification of the membrane between the radius and ulna
(the bones of the forearm). This leads to restriction of forearm
rotation.
White sclera.
Normal teeth.
Bone has a mesh-like appearance when viewed under the
microscope.
Dominant inheritance pattern

Type VI
Clinically similar to Type IV in appearance and
symptoms of OI.
The alkaline phosphatase (an enzyme linked to
bone formation) activity level is slightly elevated in
OI Type VI. This can be determined by a blood test.
Bone has a distinctive fish-scale appearance when
viewed under the microscope.
Diagnosed by bone biopsy.
Whether this form is inherited in a dominant or
recessive manner is unknown, but researchers
believe the mode of inheritance is most likely
recessive.
Eight people with this type of OI have been
identified.

Type VII
The first described cases resemble Type IV OI in many
aspects of appearance and symptoms.
In other instances the appearance and symptoms are
similar to Type II lethal OI, except infants had white
sclera, a small head and a round face.
Short stature.
Short humerus (arm bone) and short femur (upper leg
bone)
Coxa vera is common (the acutely angled femur head
affects the hip socket).
Results from recessive inheritance of a mutation to the
CRTAP (cartilage-associated protein) gene. Partial
function of CRTAP leads to moderate symptoms while
total absence of CRTAP was lethal in all 4 identified
cases.

Type VIII
Resembles lethal Type II or Type III OI in
appearance and symptoms except that infants
have white sclera.
Severe growth deficiency.
Extreme skeletal under mineralization.
Caused by a deficiency of P3H1 (Prolyl 3-
hydroxylase 1) due to a mutation to the
LEPRE1 gene.

Disease Entity

Disease Entity


Treatment and
Management

Treatment and Management

Name Classifica-
tion
Dose/
Frequency
/Route
Mechanism
of action
Indication Contra-
indication
Side effects Nursing
responsibility
Generic:
Mefenami
c acid
Analgesic 250 mg/
prn /oral
works by
reducing
prostaglan-
din
hormones
that cause
inflammation
and pain in
the body
Relief of
pain on pin
site
Hyper-
sensitivity,
active
ulceration
or chronic
inflamma-
tion of
either upper
or lower
GIT, blood
disorders,
poor
platelet
function,
kidney or
liver
impairment,
children
<14 y/o
Stomach
upset,
dizziness,
drowsiness,
diarrhea,
and headache
-Patient should
take medication
on full stomach
-Assess patients
pain before
therapy
-Monitor for
possible drug
induced adverse
reactions:
Edema;
weight gain;
altered BP;
chest pain;
Rash;
Blurred vision;
dry mouth;
Shortness of
breath.
Nursing Care
Plan

Nursing Care Plan

CUES BACK-
GROUND
KNOW-
LEDGE
NURSING
DIAGNOSIS
OBJECTIVE NURSING
INTERVEN-
TIONS
RATIONALE EVALUATION
Objective:
> history of 2
previous
fractures
> deformity
of bones
> bone
brittleness
> thinness /
decreased
muscle tone
> poor bone
healing
The main
clinical
manifestation
of OI is the
tendency for
bones to
fracture easily.

Risk for
further injury
related to
masculo-
skeletal
impairment
secondary to
disease
process
After 4 hours
of nursing
intervention
the patient will
be able
verbalize ways
in which
injury can be
prevented
Independent:
>refrain from
performing non-
essential
procedures

>keep side rails
up and bed in
low position

>check for
peripheral pulse
on the affected
area

>instruct
relatives from
leaving the
clients bedside

>to promote
rest



>to promote
safe
environment

>To check for
circulation in
the affected
extremity

>to refrain
from untoward
accident that
may aggravate
the condition
Goal was met.
After 4 hours of
nursing
intervention the
patient was able
to recite ways in
which he can
prevent injury or
trauma.
CUES BACKGROUND
KNOWLEDGE
NURSING
DIAGNOSIS
NURSING
OBJECTIVES
NURSING
INTERVENTIONS
RATIONALE EVALUATION

Subjective:
Pinagbabawalan na
po ko maglaro
masyado ng doctor
dahil mabilis akong
mabalian ng buto
as verbalized by the
patient.
Objective:
Observed
discomfort in
social
situations
Inability to
receive and
communicate
a satisfying
sense of
belonging,
interest and
shared history
Observed use
of
unsuccessful
social
interaction
behaviors

The patient is
prone to further
injuries; he
needs to be
isolated from
kids his age
because of the
tendency of
their activities
to be harmful to
the patient.
Thus, making
the patient not
able to socialize
and build social
network.

Impaired social
interaction
related to
therapeutic
isolation

After 4 hours
of nursing
intervention,
patient will be
able to develop
effective social
support system.

Help patient
identify
behaviours
needing
positive
change.
Role-play
random
social
situations in
therapeutical
ly controlled
environment
.
Explain the
effects of
having a
good social
network.

Acceptance
of the
problem
encourages
improve-
ment









After 4 hours
of nursing
intervention,
the patient
developed
effective social
support system
CUES BACKGROUND
KNOWLEDGE
NURSING
DIAGNOSIS
NURSING
OBJECTIVES
NURSING
INTERVENTIONS
RATIONALE EVALUATION
Subjective:
hindi ko
maigalaw yung
binti ko, may
nakakabit kasi
as verbalized by
the patient
Objective:
Application
of balance
skeletal
traction
Limited
ROM
Reluctance
to move
Inability to
move
purposefull
y
BST is use to
immobilize the
patient and to
correct
deformities in
which
steinmanns pin
is inserted at
the femur thus
mobility is
lessened.
Impaired
physical
mobility
related to BST
secondary to
fractured M3rd
femur
After 4 hours
of nursing
interventions
the patient will
be able:
>to
demonstrate the
use of assistive
device such as
overhead
trapeze and
support pillow
Instruct to use
the overhead
trapeze






Provide
footboard




Assist patient
when exercising
the unaffected
extremities




To increase
mobility or
facilitates
movement; it
also reduces
discomfort of
remaining flat
in bed.

Useful in
maintaining
functional
position of
extremities.

Increase
blood flow to
muscle and
bone to
improve
muscle tone,
maintain joint
mobility and
prevent
contractures

GOAL MET:
After 4 hours
of nursing
interventions
the patient
was able to
fully
maximize
body function
within
therapeutic
limitations
by:
>demonstrati
ng use of
assistive
devices such
as overhead
trapeze and
support
pillow
Position
every 2
hours



Encourage
participatio
n in
diversional
activities
and
maintain
stimulating
environme
nt like
personal
possessions
, visits from
family or
friends.
Prevent
incidence
of skin
complica-
tion

Refocuses
attention,
and
enhances
self-
worth.