A RARE CASE OF PROGERIA FOR CASE REPORTING FROM NILOUFER HOSPITAL, HYDERABAD, INDIA.

1. CASE FOR DEMONSTRATION
UNIT-IV
NILOUFER HOSPITAL
BY DR.PRADEEP SINGH

2. • A 16 yr old female, SOUMYA, first in the birth
order, born out of a non-consanguineous
marriage, from Nizamabad was brought with
the chief complaints of –
1. Fever for 4 days.
2. Shortness of breath for 2 days
3. Vomiting for 1 day.

3. H/O PRESENT ILLNESS
• The child was apparently alright 5 days back
when she developed fever.
• The fever was of moderate grade, intermittent
type, not associated with chills/rigor.
• Fever responded to medication by local
doctors (RMP).
• The child was afebrile on admission.

4. • C/O Shortness of breath over last 2 days.
• The onset was acute over a period of 4-6 hrs
the severity had increased and was not
relieved by local medications.
• This was associated with marked distress
more in the lying down posture.
• No H/O cyanosis
• No H/O any seizure activity
• Not associated with chest pain or palpitations.

5. • C/O vomiting for the past 1 day.
• 3 episodes over the past 1 day.
• Non-projectile
• Non-bilious
• Main contents included feeds.
• No H/O haemetemesis
• Not assoc. with diarrhea/abdominal
distension.

6. • No H/O cough or cold.
• No H/O diarrhea.
• No H/O any feeding difficulties.
• No H/O trauma
• No H/O jaundice.
• No H/O of alteration in bowel and bladder
activity.

7. PAST HISTORY
• No major illness in the past.
• The child was a regular student to school till class-V
when she suffered a trauma due to fall.
Since then she found it difficult to walk and
discontinued schooling.
• The parents were unaware of any underlying
condition of the child and was regularly treated for
minor complaints at local clinic(RMP)

8. BIRTH HISTORY
• The child was born by spontaneous vaginal delivery
(home delivery) with the near term gestational age.
The birth weight was 1.6kg(LBW)
• No H/O neonatal asphyxia.
• There was no history of any maternal illness.
• Ante-natal and post-natal history was uneventful.
• She was exclusively breast fed for 3 months and then
started with complimentary feeds as advised by the
local doctors.
• She was immunized for BCG, OPV and DPT.

9. FAMILY HISTORY
• The child is born out of a non-consanguineous
marriage.
• There is no history of any other family
member or a relative with similar complaints.
• The other two male younger siblings of the
child have a normal birth and a developmental
history.

10. GENERAL EXAMINATION
• Child is conscious, alert, coherent and oriented
to time, place and person
• She is right Handed and has near normal
intellect. She can read and write in telugu.
• She is able to do simple arithmetic
calculations.
• Afebrile
• Total body hair loss including the entire scalp
and the eye brows and eye lashes.
• Eyes are prominent and bulging. Large head
for size of face.

11. • No pallor, icterus or lymphadenopathy.
• Hypo-pigmented patches with dry scaly skin.
• Pinched or beaked nose
• Dystrophy of the nails of both upper and lower
limbs.
• Maloccluded teeth seen.
• Contractures in distal part of the limbs.
• Full range of movements in UL at shoulder and
elbow but the wrist movements are grossly
restricted.

12. • Lower limb movements are restricted on the
right side (H/O trauma on the Right side) with
deformity of the hip.
• On the left side movements at hip and knee is
normal range.
• Decreased range of movements at the ankle
joints bilaterally.
• The child has not been able to walk over the
past 5 yrs but can stand with good balance.

13. ANTHROPOMETRY
• Weight : 8.5kg ( below 3rd centile)
• Height: 96 cms (below 3rd centile)
• Head Circumferece: 46.5cms
• There is generalized wasting in all groups of
muscles bilaterally in both UL and LL

14. SYSTEMIC EXAMINATION
• CVS
S1 S2 are heard
Pan systolic murmur is + in the mitral area
Supra-cardiac pulsations are seen
• LUNGS
B/L NVBS
Occasional crepts ( R>L )
• PER ABDOMEN
Soft, No organomegaly.

15. • VITAL DATA :
HR : 112 bpm
BP : 100/70 mm Hg supine on left UL.
RR : 42 cycles/min.
Temp: Afebrile

16. SOUMYA

20. 2D ECHO : Severe MR with AR was present.
Moderate PAH, mild TR.
Dilated LA and LV
Mild LV dysfunction
Long Bone X rays revealed distal radioluscency.
There is straightening of femoral head.

21. SPOT DIAGNOSIS

22. PROGERIA

23. • Progeria (also known as "Hutchinson–Gilford
Progeria Syndrome" ) is an extremely rare
genetic disease wherein symptoms resembling
aspects of aging are manifested at a very
young age.

24. •What causes
Progeria ?

25. • The gene LMNA encodes a protein called
prelamin A.
• Prelamin A has a farnesyl group attached to its
end. Farnesyl group is normally removed from
prelamin A and converts it to lamin A which
lacks a farnesyl group.
• Lamin A, along with lamin B and lamin C, make
up the nuclear lamina , which provides
structural support to the nucleus.
NORMAL PROCESS

26. • In progeria, Farnesyl group remains attached
to prelamin and this abnormal form of
prelamin A is called progerin.
• Failure to remove the group permanently
affixes the protein to the nuclear rim.
• This leads to weakening of the nuclear lamina
limits the ability of the cell to divide.

27. LOST NUCLEAR STABILITY

28. • In 2003, the cause of progeria was discovered
to be a point mutation in position 1824 of the
LMNA gene on chr-1, in which cytosine is
replaced with thymine
• INCIDENCE :
The incidence of progeria is said to be about
1 in 8 million live births.

29. INTERESTING FACTS !!
• First described by Dr. Jonathan Hutchinson in
1886 and Dr. Hastings Gilford in 1904.
• There are nearly 100 children being tested by
the Progeria Research Foundation.
• Of all the side affects that a Progeria child has,
their intellect is never an issue.
• Other Progeria syndromes include Werner's
syndrome, also known as "adult progeria"
which doesn’t have an affect until the late teen
years, with a life span into the 40's and 50's.

30. • The average child diagnosed with
Progeria usually lives to be teenagers.
• Children usually die at age 13 with
atherosclerosis OR stroke.
• Only in an extreme case, a Progeria
victim was able to survive for 29 years,
the maximum recorded till date.

31. FEATURES OF PROGERIA
• Growth failure during the first year of life
• Narrow, shrunken or wrinkled face
• Loss of eyebrows and eyelashes described as
total body alopecia
• Loss of body fat
• High pitched voice
• Baldness
• Short stature
• Large head for size of face
• Dislocation of hip with stiff joints

32. • Prominent scalp veins and
prominent eyes.
• Small jaw – micrognathia.
• Dry, scaly, thin skin
• Limited range of movements.
• Mental growth usually equivalent to the other
children of same age group
• Generalised atherosclerosis
• Teeth – delayed dentition or absent teeth.
• Malocclusion of teeth is possible due to persistent
primary teeth.

33. SIGNS AND TESTS
• These may show:
-Insulin-resistance
- Skin changes similar to that seen in scleroderma
(the connective tissue becomes tough and
hardened)
-Cardiac stress testing may reveal signs of early
atherosclerosis of blood vessels
-Genetic testing can detect changes in the gene
that causes progeria

34. • IS PROGERIA HEREDITARY ?

35. • Progeria is due to a rare gene change which
happens purely by chance.
• A non-twin sibling runs the same risk of
having Progeria as any other child from
another family.
• In about 1 in every 100 cases of HGPS the
syndrome is passed down to the next
generation within the same family.

36. PROGNOSIS
• The condition is usually
fatal.
• The average child
diagnosed with
Progeria usually lives to
be a teenager.
• Mean survival of such
cases is estimated to be
13 yrs.

37. TREATMENT
• Low dose aspirin
• High calorie diet
• Removal of primary teeth
• Physical and occupational therapy
• Vitamin supplements like vitamin-E
• Calcium supplements
• May require coronary artery bypass later on

38. TRIAL MEDICATIONS AT A GLANCE
• Lonafarnib is an FTI (Farnesyl transferase
inhibitor), a drug that can reverse an
abnormality in Progeria cells in the laboratory,
and has improved disease in Progeria mice.
This was a huge break though in progeria
research.
• Pravastatin is a member of the drug class of
statins. It is usually used for lowering
cholesterol and preventing cardiovascular
disease.

39. • Zoledronic acid is a bisphosphonate, usually
used as a bone drug for improving
osteoporosis, and to prevent skeletal fractures
in people suffering from some forms of cancer.
• All 3 drugs block the production of the farnesyl
molecule that is needed for progerin to create
disease in Progeria
• PRF plans for a new, 4-drug clinical trial with
the three drugs currently being tested, plus
everolimus, a form of rapamycin

40. ORGANIZATIONS SUPPORTING PROGERIA
• Progeria Research Foundation
“Together, we WILL find a cure.”
• Information about Progeria
• Ways to Donate and get Involved.
• Meet the kids, parents and doctors of Progeria.
• Medical Research
• The Sunshine Foundation
“The Original Wish Granting Organization”
• About the site
• Donations
• Programs
• Supporters
• News
• Volunteer Chapters

41. HAYLEY
• From the U.K.
• Diagnosed at age of
10 years.

42. MICHIEL & AMBER
• From Belgium.
• Siblings to be affected
by progeria.
• Michiel diagnosed at 4
years and Amber at
only 3 weeks old.

43. CAMERON
• Showed signs of
Progeria when he
was18-24 months
old.
• From Michigan.
• 1 of 15 children in
the U.S. to be
diagnosed.

44. SOUMYA
• Diagnosed in her teens
at Niloufer Hospital,
Hyderabad, INDIA.
• She is 16 years old
• Loves to watch movies
and listens to songs.

45. WE SHALL GET THERE SOON !!
THANK YOU