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 â
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
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.
23. ⢠Progeria (also known as "HutchinsonâGilford
Progeria Syndrome" ) is an extremely rare
genetic disease wherein symptoms resembling
aspects of aging are manifested at a very
young age.
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.
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 doesnât 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 â micrognathia.
⢠Dry, scaly, thin skin
⢠Limited range of movements.
⢠Mental growth usually equivalent to the other
children of same age group
⢠Generalised atherosclerosis
⢠Teeth â 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
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
âTogether, we WILL find a cure.â
⢠Information about Progeria
⢠Ways to Donate and get Involved.
⢠Meet the kids, parents and doctors of Progeria.
⢠Medical Research
⢠The Sunshine Foundation
âThe Original Wish Granting Organizationâ
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