This is a case of M.R.

, a 21-year-old male, Filipino, Roman Catholic who is currently

residing at Lapu-Lapu City. He came in for the first time in VSMMC due to multiple bone
deformities and inguinal mass.

Considering the patient’s multiple bone deformities, at 12 years of age, the patient
sustained a hip injury secondary to fall. He fell from a water pump approximately 2 feet high,
hitting his left hip first on the ground thereby causing severe pain on the affected area to which
he did not inform his parents about. He tolerated condition until 2 weeks after the said injury, the
pain worsened which then prompted him to seek for consultation to a local ‘manghihilot.’
Massage was done which provided temporary relief of pain. The pain persisted but he continued
to tolerate the condition. He was then brought by his parents to District Hospital for medical
evaluation, where MRI was requested, but was unable to comply due to financial constraints.
Patient went back to the ‘manghihilot’ and self-medicated with Mefenamic acid 500 mg tablet as
needed for bouts of pain. He tried to continue with his daily activities but his condition restricted
him from doing so. He then decided to stop schooling due to two incidents of fall. He denied
bullying or any form of physical abuse.

At 17 years of age, patient needed the aid of assistive devices (crutch) to be able to
walk to which he used for 2 years.

At 19 years of age, patient claimed to have developed a back deformity due to

prolonged use of the assistive device (crutch). This deformity rendered him unable to lie supine.
In addition, the he also complained of inability to extend his right leg and flex his left leg. Patient
tolerated the condition and did not seek for medical consultation due to hopelessness of current
condition.

Considering his inguinal mass, at 20 years of age, he noticed a sudden onset of a bulge
at the right inguinal area and testicle, which is aggravated by physical activity. He claimed that
the mass was reducible. Persistence of said symptoms prompted him to seek for consultation in
this institution.

The patient was born to a G1 mother who had regular prenatal check ups at the local
health center. He was then delivered via normal spontaneous delivery without any complications.
He was claimed to have a complete immunization status. His growth was unremarkable and his
developmental milestones were at par with age.

The patient reached first year high school before he stopped. He currently stays at
home and tending to their livestock. He is a non-smoker but is an occasional alcoholic beverage
drinker.

The patient has a positive family history of hypertension, diabetes mellitus, pulmonary
tuberculosis and arthritis. Remarkably, there was also a report of a family history of bone
deformities on the paternal side.

Upon physical examination, the patient was noted to have pterygium on the right eye,
no bluish sclerae. No hearing loss. Noted chest rib cage deformity and presence of
kyphoscoliosis. No pertinent cardiac abnormalities. Limitation of movement on lower
extremities were prominent, with his left leg extended, stiff, unable to flex. Upon further
examination, there was note of a reducible mass at the right inguinal area.

Blood chemistry and xrays of affected body parts was ordered. Patient was given
analgesics while waiting for imaging studies.

CASE DISCUSSION

Osteogenesis imperfecta has a central feature of decrease bone mass making the bones brittle. It
is classically divided into 2 subtypes, congenital and tarda which depends on the age of onset.
Currently, it is classified according to clinical presentation.

1. Type 1, which is the mildest type producing mild of no apparent deformities of the
skeleton and most patients present with distinctly blue sclerae
2. Type 2, a lethal form producing brittle bones causing demise in utero or shortly after
birth, divided into subtypes IIA, IIB, IIC which are differentiated through radiologic
findings
3. Type 3, progressively deforming with moderate to severe deformity
4. Type 4, which is a commonly with normal sclerae, having mild to moderate fragility

The classifications of patients by types of OI do not consistently predict the clinical course of
disease. In the case of this patient, he appeared normal at birth with 1 history of fracture instead
of multiple fractures.

The role of the family physician is to recognize findings in the physical examination and history
that suggest a genetic syndrome to be able to aid in the diagnosis and provide timely
management and subspecialty referral.

In the case of this patient, he came in for complaints of right inguinal mass, but upon general
survey, the patient has notable dysmorphic feature of kyphoscoliosis of the back as well as
limitation of movement on the lower extremities.

However, the presence of one obvious malformation should not limit the physician to not have a
full examination since subtler findings will be essential for differential diagnoses. To have an
accurate 3-generation family history is also of value, noting age of onset and sex of family
members who are affected by the genetic disease, prognosis, ethnic background and if there is
history of consanguinity

Prompt recognition of features suggesting of genetic conditions can improve the selection of
appropriate, cost-affective diagnostic tests; performance of well-informed genetic counseling
related to issues such as prognosis and future family planning; and timely referral to
subspecialists.

Source: When to suspect a genetic syndrome

Treatment:

No cure for OI, treatment focuses on minimizing fractures, surgical correction of deformity and
reducing bone fragility by increasing bone density, minimizing pain, and maximizing mobility
and independent function

 Behavioral and lifestyle modifications to avoid situations that may cause a fracture
 Orthopedic surgery
 Scoliosis management
 Rehabilitation, including water therapy and physical activity
 Adaptive equipment and ambulation aids
 Weight management

Roles of a primary care physician

 Help a family place the child’s case in perspective

 Develop a treatment plan to optimize quality of life, encourage peak bone mass
development and emphasize function, independence and societal integration
 The physician’s office can be a medical home for the child, and the physician can
coordinate care with a number of specialists
 Work with the family to ensure that all medical, psychological, social developmental,
and educational needs are addressed
Source: Guide to Osteogenesis Impefecta for Pediatricians and Family Physicians