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 LivingActivity Before

HospitalizationDuring

HospitalizationAnalysis

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>doesn’t take any vitamins>consumes 1 ½ cup of rice with moderate viand

>drinks 5 glasses of water/day>eats 3x a day>still prefers to eat vegetables than meat>doesn’t 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 LivingElimination(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 doesn’t 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 LivingActivity and

Exercise>goes to school from Monday to Friday >typical student that does everything needed in school>plays with classmates every breaktime>doesn’t 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 he’s 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 3rd femur.

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

BODY PART TECHNIQUE USED

NORMAL FINDINGS

ACTUAL FINDINGS

ANALYSIS

HEAD-Skull

-Hair and scalp

-Eyes

InspectionPalpation

InspectionPalpation

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

InspectionPalpation

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 InspectionPalpationAuscultation

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 InspectionPalpationAuscultation

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

InspectionPalpation

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 Steinmann’s 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 NormalHematocrit 0.42 0.37-0.54 NormalLeukocyte 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 NormalPlatelet Count 309 150-400x10^g/L Normal

COAGULATION STUDIESProthrombin Time 14.3 11-15 secs Normal I/O activity 92.2 INR 1.07Activated PTT 38.0 22-45 secs NormalBlood Type “O”RH Typing Postive (+)

HEMATOLOGY

CRP:Peripheral Smear CRP-No Reagent ComponentIndicesMCV 81 82-92 fL Low MCH 28 28-32 pg NormalMCHC 35 32-38% Normal

RBC MORPHOLOGYESR Westergren Method

Children 20 0-10mm/hr High Clotting Time (lee & white) 5’00” 5-15 mins NormalBleeding 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 ManagementName Classifica

-tionDose/

Frequency

/Route

Mechanism of

action

Indication

Contra-indicatio

n

Side effects

Nursing responsibili

ty

Generic:Mefenamic 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 patient’s 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 PlanCUES BACK-

GROUND KNOW-LEDGE

NURSING DIAGNOSI

S

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 client’s 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 situationsInability to receive and communicate a satisfying sense of belonging, interest and shared historyObserved 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 therapeutically 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 INTERVENTION

S

RATIONALE EVALUATION

Subjective:“hindi ko maigalaw yung binti ko, may nakakabit kasi”as verbalized by the patientObjective:Application of balance skeletal tractionLimited ROMReluctance to moveInability to move purposefully

BST is use to immobilize the patient and to correct deformities in which steinmann’s 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:>demonstrating use of assistive devices such as overhead trapeze and support pillow

Position every 2 hours

Encourage participation in diversional activities and maintain stimulating environment like personal possessions, visits from family or friends.

Prevent incidence of skin complica-tion

Refocuses attention, and enhances self-worth.