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Amyloplasia Congenita: A Rare Case with an Optimistic Outlook
Nancy H. Youssef M.D., Jared Terronez M.D., Rujuta R. Gandhi M.D.
Advocate Christ Family Medicine Residency Program
INTRODUCTION
CASE cont.
Arthrogryposis Multiplex Congenita (AMC)
• Syndrome diagnosed when 2 or more
joints in more than one limb are fixed
from birth
• Occurrence rate of 1 in 3,000 births.
• Pathogenesis is unknown
• May be caused by neurological and nonneurological causes.
Amyoplasia Congenita:
• Most common type of AMC
• Occurrence rate of 1 in 10,000 live births
• Poor prognosis unless identified correctly
& early therapy initiated.
Prenatal Care:
• 23 year old femaleG1P0 with no previous
OB history and no PMH.
• Denied all genetic disorders in herself, her
family, and in the father of the baby.
• Ultrasound: appeared to be farther along
in her pregnancy than expected.
• Prenatal labs & Quad screen were normal,
but not accurately interpreted due to
incorrect gestational age.
• Noted that the child kicked mainly in the
right upper quadrant during her pregnancy
• Had a vertical/oblique lie.
• Quickening not accurately recorded due to
the late start of prenatal care.
Delivery:
• NSVD at 37 3/7 WGA.
• Birth weight: 5lbs and 4 oz
• APGAR scores of 91 and 95.
• On exam immediately following delivery,
infant was found to have bilateral elbow
extension contractures, bilateral wrist flexion
contractures and atrophy of the shoulder
girdle.
X-ray and Physical Features of Amyoplasia
Congenita:
The child's appearance and her x-ray on 2nd day of
life show clearly that there is no muscle
development or contour of the muscles in the
upper extremities. The bones appear normal. The
shoulders appear medially rotated, the forearm is
pronated, wrists are flexed with ulnar deviation
and fingers flexed.
MANAGEMENT
Work Up:
• 2-D echo was normal for age.
• Ultrasound of the head was unremarkable.
• Bone x-ray:
- the spine and pelvis were unremarkable.
- both hands flexed at the wrist
- delineation of the feet is limited.
Diagnosis of Amyoplasia Congenita:
• Made by physical exam findings
• Confirmed by the genetics team.
Physical therapy and occupational therapy
consulted to begin management and therapy
of contractures.
Inspiring medicine, Changing lives
OUTCOME
DISCUSSION cont.
Therapy:
• Infant undergoes continuous stretching and
fitted bracing of upper extremities to
improve position of wrists and hands.
• Contracture release maneuvers taught to
mom.
• The child's prognosis is very good.
• At 4 month well child visit, infant exhibited
spontaneous movement of her arms from
the shoulder joints bilaterally.
Work up for Amyoplasia Congenita:
• Important to rule out other AMC
associated disorders.
• Chromosomal blood work.
• Full body X-ray to R/O spinal dysraphism
& congenital hip dislocation.
• Head & abdominal ultrasounds to R/O
anomalies.
• MRI of the brain & spinal cord3.
• EEG, muscle biopsy, EMG & nerve
conduction studies3 can help assess
severity of the Amyoplasia Congenita.
DISCUSSION
CASE
Advocate
Christ Medical Center
AMC may be caused by neurological and nonneurological causes. An example of a
neurological type of AMC include: Amyoplasia
Congenita.
Characteristics Amyoplasia Congenita:
• Fatty- and fibrous- tissue replacement of
2
limb muscles .
• Muscle mass of the limbs have atrophied
appearance4.
• Usually symmetric, involving all 4
extremities 84% of the time.
• Some patients only have isolated upper
5
11%, or lower 5%, extremity involvement .
• Upper limbs tend to have internally rotated
shoulders, extended elbows, and flexed
wrists, creating the so called "policeman
4
tip" .
• Knees fixed and often dislocated.
• Feet are often in an equinovarus position.
• 11.6% of children have anomalies such as
gastroschisis, bowel atresia & abdominal
wall defects.
• Facial features: a midface capillary
hemangioma, a round face, short upturned
nostrils, and micrognathia.
• No inheritance pattern. Thought to be
sporadic2.
Treatment of Amyoplasia Congenita:
• Increase movements to decrease stiffness.
• Aggressive physical and occupational
therapy beginning shortly after birth are
key to good outcomes4.
CONCLUSION
• Important that if AMC is suspected a full
work up is done to rule out serious types.
• The baby's future is bright! She may find
compensatory ways to use her upper
extremities.
ACKNOWLEDGMENTS
We would like to thank the parents of our
patient for permission to photograph their
child and share this case.
REFERENCES
1. Alfonso I, Papazian O, Paez JC, Grossman J. Review Article: Arthrogryposis
Multiplex Congenita. International Pediatrics. 2000; 15: 197-204
2. Sells JM, Jaffe KM, Hall JG. Amyoplasia, the most common type of arthrogryposis:
the potential for good outcome. Pediatric. 1996; 97: 225-231
3. O'Flahery P. Arthrogryposis Multiplex Congenita. Neonatal Network. 2001; 20:13-20
4. Kulayat N, Narchi H, Tunnessen W. Picture of the Month. Arch Pediatr Adolesc Med
2001; 155: 407-08
5. Hall JG, Reed SD, Driscoll EP. Amyoplasia: a common sporadic condition with
Congenital contractures. Am J Med Genet.1983: 15: 571-590
6. Lee HS. Amyoplasia Congenita of the Lower Extermity: Report in a premature
baby. Yonesi Medical Journal 2005; 46:567-570