PROGERIA CASE REPORT DR.PRADEEP SINGH
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This document presents a case study of 16-year-old Soumya who was brought to the hospital with fever, shortness of breath, and vomiting. After examination, she was diagnosed with progeria. Progeria is an extremely rare genetic condition where children exhibit rapid aging symptoms. It is caused by a genetic mutation that prevents prelamin A from being properly processed. Children with progeria have short stature, loss of hair and body fat, stiff joints, heart disease, and typically die in their early teens. While currently incurable, research is ongoing to develop treatments to target the underlying genetic cause.
PROGERIA CASE REPORT DR.PRADEEP SINGH
- 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.
- 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 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