On the 20

th
day, a lumbar puncture was performed.

Administration of low-molecular-weight heparin at a dose of 200 U per
kilogram of body weight twice daily was required to achieve a
therapeutic level.


A. Family Health History

Mother - Had 2 spontaneous miscarriage
Parents and sibling were healthy
Maternal and paternal head circumference were normal
His grandmother had bifid uvulva, but three generation family history was
otherwise unremarkable






























CASE B
Case 24-2014: A 27-Year-Old Man with Severe
Osteoporosis and Multiple Bone Fractures

A. Demographic Data

Age: 27
Gender: Male

B. Chief Complain

Severe osteoporosis and multiple bone fractures.

C. History of Present Illness


Born to a 23 year old primigravida mother after 40weeks of uncomplicated
gestation.
He had intensely blue sclerae at birth according to the mother.
Physical exam was normal.
Patients postnatal course was normal. He was discharged home.

At 1 year of age
o Mild delays in speech and gross motor development were noted by his
parents and the pediatrician
o With weakness of leg muscles and poor body control.

At 16-17 months of age he started walking and had the first multiple fracture.
He had more than 12 fractures before he started school.
Approximately 20 fracture before age 10.
These fractures resulted from minor trauma, twisting injuries, falls and collisions.

During early childhood, he was diagnosed with cognitive impairment and speech
difficulties.
Speech therapy was initiated.

By the time he started elementary school

o His language development caught up with that of his peers.
o He didnt require additional speech therapy.
o He had mild cognitive challenges in school and was granted extra time on
test and received special-education services.
o He attended mainstream classes and graduated from high school.