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 1½ 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 6th 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 During Analysis
Hospitalization Hospitalization
Fluid & >Drinks 10 glasses >drinks 5 glasses of >His activities are
Nutrition of water/day water/day limited, leading to
>drinks softdrinks >eats 3x a day less consumption of
(coke) and juice >still prefers to eat energy, then to a
(occasionally) but vegetables than meat feeling of full
prefers water >doesn’t take any appetite. With this
>prefers vegetables vitamins feeling, his appetite
than meat >consumes 1 cup of and nutrition is
>eats 3x a day rice, depending on decreased.
(breakfast, lunch, what kind of viand
dinner >on DAT
>doesn’t take any >no IVF
vitamins
>consumes 1 ½ cup
of rice with moderate
viand
 Activities of Daily Living
Elimination >voids at least 4 times a >voids at least 4 times a >with his limited
(Bowel and day and defecates at day and defecates every activities, his
Bladder) least once a day. other day. 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 >he sleeps most of the >confined to the bed,
sleeps from 8pm to 5am time. When he doesn’t JME has no choice but
>after school, he sleeps have anything to do, he to stay in bed.
for 2 hrs. (2 – 4 pm) just takes a nap.
>during weekends, he >Consumes at least 10hrs.
sleeps from 9:30pm to of sleep at night.
7:00 am
 Activities of Daily Living
Activity and >goes to school from > spends most the time at >he cannot do much,
Exercise Monday to Friday the orthopedic bed even exercise and in
>typical student that >bed rest his condition with OI,
does everything needed >no exercises instructed his bone are still
in school by the doctor fragile and is at risk for
>plays with classmates more injuries.
every breaktime
>doesn’t do any exerise

>bathes twice a day > takes a bath thrice a >he lacks privacy, and
Oral and Personal >brushes his teeth 3x a week since he’s in a balanced
Hygiene day after each meal >Brushes his teeth 2x a skeletal traction, he
>changes clothes every day every morning and cannot clean himself,
time he takes a bath and before sleeping especially when his
if necessary 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 3rd femur.

Vital Signs: T- 36.7°C PR- 71bpm RR- 25cpm

BODY PART TECHNIQUE NORMAL ACTUAL ANALYSIS
USED FINDINGS FINDINGS
HEAD
-Skull Inspection Proportional to Slightly large to Since there is low
Palpation body size, round, body size, with quality of collagen,
prominent in prominent frontal the skull can be
frontal area, area, slightly easily molded and
symmetrical in all triangular in shape. influenced
planes, gently especially on how
curved, he sleeps – sign of
normocephalic OI

-Hair and scalp Inspection Hair smooth, shiny Dark brown, thick Normal
Palpation and thick; Scalp free and evenly
of infections and distributed hair;
infestations. Scalp free of
infestations and
lesions.
-Eyes Inspection Parallel, evenly Slightly big, round Strabismus;
placed; symmetric, eyes; grayish sclera; Grayish sclera and
non-protruding, no no discharges; no strabismus caused
discharges, white signs of infection; by lacking collagen
sclera. strabismus. supply. – sign of OI
- Ears and Hearing Inspection Parallel, Parallel, Slight hearing loss
symmetrical, bean symmetrical, in line probably because of
shaped, helix in line with canthus of eye, cerumen or
with canthus of eye, slightly big and otosclerosis. – sign
skin same with fanning;cerumen of OI
surrounding area, present; unable to
clean; Able to hear hear whisper spoken
whisper spoken 2 2 feet away; with
feet away. cerumen.

- Nose Inspection In midline, In midline, no

symmetric, patent, difficulty of Normal
no difficulty in breathing, no
breathing. discharge.

-Mouth Inspection Smooth, moist, Pink, moist lips; Pink Dentogenesis

symmetric lips; gums; Severely Imperfecta – Sign of
Gums pink, free misaligned teeth. OI.
from discharge and
swelling; complete,
well-aligned teeth,
free from carries;
Pink or red tongue,
rough on top smooth
on sides.
NECK Inspection Proportion to body Proportional, straight, normal
and head, symmetric, without lumps or
no lumps, no masses, movable.
tenderness, straight,
movable w/o
difficulty.

UPPER Inspection Clean, no lesion, Thin, with slight Since collagen is of

EXTREMITIES Palpation complete fingers, deformity, prominent, low quality, the bones
symmetrical, no flexible joints; scars can be flexed and
abnormalities, no on the hands; fingers easily deformed, in
tenderness, smooth are too long for the the case of the
contour. hands fingers, it is stretched.

CHEST and BACK Inspection No discoloration, no Barrel chest, no Since collagen is of

Palpation lumps, symmetric retractions, normal low quality, the spine
Auscultation chest; normal breath breath sounds, is easily deformed
sounds, no normal heart sounds; thus leading to spinal
retractions; normal lateral spine curvature.
heart sounds. curvature to the left.
ABDOMEN Inspection Uniform color; no symmetric, round normal
Palpation lesions, no contour; normoactive
Auscultation tenderness; bowel sounds; no
symmetric; centered palpated mass nor
umbilicus;; normal lumps; no scars;
heart sounds; normal centered umbilicus
bowel sounds.

LOWER Inspection Equal, variable hair Thin, symmetric; Since collagen is of

EXTREMITIES Palpation distribution; no prominent knee low quality, the
lesions and joints; flexible joints; bones can be easily
varicosities; deformed; dry skin deformed and can be
complete nails; with several scars easily flexed; pus is a
normal; smooth, and lesions; inserted positive sign of
moist skin contours Steinmann’s pin on infection; lesions
and equally toned right leg, with small caused by poor
amount of pus on hygiene.
insertion site and
inflammation
Diagnostic Test
 HEMATOLOGY

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 (+)
 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) 5’00” 5-15 mins Normal
Bleeding Time
(ivy’s method) 2’00” 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

body’s 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 glycine’s 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 helix—Hyp even more so than
Pro—a 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- Dose/ Mechanism Indication Contra- Side effects Nursing
tion of action indication responsibility
Frequency

/Route

Generic: Analgesic 250 mg/ works by Relief of Hyper- Stomach -Patient should
Mefenami prn /oral reducing pain on pin sensitivity, upset, take medication
c acid prostaglan- site active dizziness, on full stomach
-Assess patient’s
din ulceration drowsiness,
pain before
hormones or chronic diarrhea, therapy
that cause inflamma- and headache -Monitor for
inflammation tion of possible drug
and pain in either upper induced adverse
the body or lower reactions:
•Edema;
GIT, blood
•weight gain;
disorders, •altered BP;
poor •chest pain;
platelet •Rash;
function, •Blurred vision;
kidney or •dry mouth;
liver •Shortness of
breath.
impairment,
children
<14 y/o
Nursing Care
Plan
 Nursing Care Plan
CUES BACK- NURSING OBJECTIVE NURSING RATIONALE EVALUATION
GROUND DIAGNOSIS INTERVEN-
KNOW- TIONS
LEDGE
Objective: The main Risk for After 4 hours Independent: Goal was met.
> history of 2 clinical further injury of nursing >refrain from >to promote After 4 hours of
previous manifestation related to intervention performing non- rest nursing
fractures of OI is the masculo- the patient will essential intervention the
> deformity tendency for skeletal be able procedures patient was able
of bones bones to impairment verbalize ways to recite ways in
> bone fracture easily. secondary to in which >keep side rails >to promote which he can
brittleness disease injury can be up and bed in safe prevent injury or
> thinness / process prevented low position environment trauma.
decreased
muscle tone >check for >To check for
> poor bone peripheral pulse circulation in
healing on the affected the affected
area extremity

>instruct >to refrain

relatives from from untoward
leaving the accident that
client’s bedside may aggravate
the condition
 CUES BACKGROUND NURSING NURSING NURSING RATIONALE EVALUATION
KNOWLEDGE DIAGNOSIS OBJECTIVES INTERVENTIONS

Subjective:
The patient is Impaired social After 4 hours  Help patient  Acceptance After 4 hours
“Pinagbabawalan na
po ko maglaro prone to further interaction of nursing identify of the of nursing
masyado ng doctor injuries; he related to intervention, behaviours problem intervention,
dahil mabilis akong needs to be therapeutic patient will be needing encourages the patient
mabalian ng buto”
as verbalized by the
isolated from isolation able to develop positive improve- developed
patient. kids his age effective social change. ment effective social
Objective: because of the support system.  Role-play support system
 Observed
tendency of random
discomfort in
social their activities social
situations to be harmful to situations in
 Inability to the patient. therapeutical
receive and
Thus, making ly controlled
communicate
a satisfying the patient not environment
sense of able to socialize .
belonging, and build social  Explain the
interest and
shared history
network. effects of
 Observed use having a
of good social
unsuccessful
network.
social
interaction
behaviors
 CUES BACKGROUND NURSING NURSING NURSING RATIONALE EVALUATION
KNOWLEDGE DIAGNOSIS OBJECTIVES INTERVENTIONS
Subjective: BST is use to Impaired After 4 hours •Instruct to use •To increase GOAL MET:
“hindi ko immobilize the physical of nursing the overhead mobility or
After 4 hours
maigalaw yung patient and to mobility interventions trapeze facilitates
movement; it of nursing
binti ko, may correct related to BST the patient will
also reduces interventions
nakakabit kasi” deformities in secondary to be able: discomfort of
as verbalized by which fractured M3rd >to the patient
remaining flat
the patient steinmann’s pin femur demonstrate the in bed. was able to
Objective: is inserted at use of assistive fully
 Application the femur thus device such as •Provide •Useful in maximize
footboard maintaining
of balance mobility is overhead body function
functional
skeletal lessened. trapeze and position of within
traction support pillow extremities. therapeutic
 Limited
ROM • Assist patient •Increase limitations
 Reluctance when exercising blood flow to by:
to move the unaffected muscle and >demonstrati
extremities bone to
 Inability to ng use of
improve
move muscle tone, assistive
purposefull maintain joint devices such
y mobility and
prevent
as overhead
contractures trapeze and
support
pillow
 Position  Prevent
every 2 incidence
hours of skin
complica-
tion

 Encourage  Refocuses
participatio attention,
n in and
diversional enhances
activities self-
and worth.
maintain
stimulating
environme
nt like
personal
possessions
, visits from
family or
friends.