An Interesting Case Of CKD Prof.Dr.G.Sundaramurthy’s unit. Dr.B.Gowri shankar.PG M6
<ul><li>Case Profile </li></ul><ul><li>Name: Annadurai </li></ul><ul><li>Age: 21 yrs. </li></ul><ul><li>Sex: Male </li></u...
<ul><li>21 yrs. old male presented with  </li></ul><ul><li>c/o  -breathlessness </li></ul><ul><li>-easy fatiguability </li...
<ul><li>H/o present illness: </li></ul><ul><li>-breathlessness (class 2) </li></ul><ul><li>-no h/o chest pain/palpitation ...
<ul><li>Past history: </li></ul><ul><li>-not a k/c/o SHT,DM,CAD,PT </li></ul><ul><li>- k/c/o CKD on MHD x 6 mo </li></ul><...
<ul><li>General Examination: </li></ul><ul><li>Conscious </li></ul><ul><li>Oriented </li></ul><ul><li>Afebrile </li></ul><...
<ul><li>Musculoskeletal Examination: </li></ul><ul><li>Left Shoulder- Sprengel’s deformity </li></ul>
Contd… Low hair line Short neck (ratio):-14.3 Ht-172 cm   Neck-12 cm
SCOLIOSIS
ROM-FLEXION
ROM-EXTENSION
SIDE TO SIDE MOVEMENTS-restricted
SIDE TO SIDE MOVEMENTS-restricted
LATERAL FLEXION - LIMITED
<ul><li>Systemic Examination: </li></ul><ul><li>CVS: S1 S2 heard. No murmur. </li></ul><ul><li>RS  : NVBS, No added sounds...
Investigations : CBC 17-07-11 19-07-11 Hb 8 7.5 TC 8200 7100 DC P48 L50E2 P54L38E8 ESR 8/15 7/14 Platelets 2.5 L 2.3 L RBC...
<ul><li>RBS: 107 mg/dl </li></ul><ul><li>URINE R/E:  Alb- 1+ </li></ul><ul><li>Sugar-nil </li></ul><ul><li>Deposits-5-6 pu...
RENAL FUNCTION TESTS: 17-07-11 19-07-11 20-07-11 22-07-11 UREA 158 172 132 110 CREATININE 7.4 11.2 6.2 5.6 ELECTROLYTES Na...
<ul><li>USG ABDOMEN: </li></ul><ul><li>Liver: 13cm, Echo texture- Normal </li></ul><ul><li>GB: Normal </li></ul><ul><li>Pa...
VIRAL MARKERS: HIV:  NEGATIVE   HBsAg:  NEGATIVE   Anti-HCV: NEGATIVE  ANA- NEGATIVE   RA- NEGATIVE C3 LEVELS- NORMAL IVU-...
<ul><li>ECHO : No RWMA   Normal LV Systolic function NEPHRO OPINION :  Advised  HAEMODIALYSIS </li></ul>
<ul><li>ENT OPINION: </li></ul><ul><li>Left Pinna – absence of anti helix </li></ul><ul><li>PTA-mild conductive hearing lo...
Cervical-AP view
 
 
Thorax X-ray
Lumbar X-ray
Lumbar X-ray
 
`
 
 
 
 
CT ABDOMEN- <ul><li>- Left malrotated ectopic pelvic kidney </li></ul><ul><li>- Right kidney agenesis. </li></ul>
<ul><li>MRI NECK : </li></ul><ul><li>Congenital block vertebra  at C5/C6 level with fusion of anterior and posterior eleme...
<ul><li>MRI ABDOMEN : </li></ul><ul><li>Both kidneys are  absent in the renal fossa. </li></ul><ul><li>Malrotated ectopic ...
<ul><li>FINAL OPINION : </li></ul><ul><li>Type II  KLIPPEL FEIL  ANOMALY with LEFT SPRENGEL SHOUDER. </li></ul><ul><li>RIG...
<ul><li>PROBLEMS: </li></ul><ul><li>-ANEMIA </li></ul><ul><li>-CHRONIC KIDNEY DISEASE </li></ul><ul><li>-END STAGE RENAL D...
<ul><li>DIAGNOSIS: </li></ul><ul><li>TYPE II KLIPPEL FEIL SYNDROME WITH CHRONIC KIDNEY DISEASE. </li></ul>
CASE REPORTS: <ul><li>[A case of Klippel-Feil syndrome with crossed renal ectopia with fusion and unilateral vertebral art...
<ul><li>Extensive Genitourinary Anomalies Associated With Klippel-Feil Syndrome </li></ul><ul><li>Robert S. Mecklenburg, M...
<ul><li>Original article </li></ul><ul><li>The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothorac...
CASE DISCUSSION: <ul><li>Klippel–Feil syndrome-   </li></ul><ul><li>-1912 by Maurice Klippel and André Feil from France,  ...
<ul><ul><li>FEIL’S CLASSIFICATION : </li></ul></ul><ul><ul><li>  -Type I – massive fusion of many cervical and  upper thor...
<ul><li>SAMARTZIS  and colleagues suggested a new classification system. </li></ul><ul><li>Type I- patients have a single-...
<ul><li>ETIOLOGY : </li></ul><ul><li>-Unknown </li></ul><ul><li>-Global fetal insult </li></ul><ul><li>-Vascular disruptio...
Presentations: <ul><li>- Incidence 1 in 42,000 </li></ul><ul><li>-majority in females. </li></ul><ul><li>-Patients with Kl...
Cervical Stenosis… <ul><li>Torg ratio: </li></ul><ul><li>-diameter of cervical canal: to width of   cervical body(<0.80 as...
ASSOCIATIONS: <ul><li>The anomalies associated with Klippel-Feil Syndrome include:  </li></ul><ul><li>Scoliosis (60%)  </l...
<ul><li>MANAGEMENT:   </li></ul><ul><ul><li>-Medical therapy depends on the congenital anomalies present in the syndrome. ...
CONTD… <ul><ul><li>For neurologic compromise- </li></ul></ul><ul><ul><li>-Fusion of the appropriate segments posteriorly &...
TRIVIA… <ul><li>The 18th Dynasty Egyptian pharaoh  Tutankhamen  is believed by some to have suffered from Klippel–Feil syn...
 
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A Case of Klippel Feil anomaly with Sprengel Shoulder

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A Case of Klippel Feil anomaly with Sprengel Shoulder

  1. 1. An Interesting Case Of CKD Prof.Dr.G.Sundaramurthy’s unit. Dr.B.Gowri shankar.PG M6
  2. 2. <ul><li>Case Profile </li></ul><ul><li>Name: Annadurai </li></ul><ul><li>Age: 21 yrs. </li></ul><ul><li>Sex: Male </li></ul><ul><li>Occupation:coolie </li></ul><ul><li>Address : Kanchipuram </li></ul>
  3. 3. <ul><li>21 yrs. old male presented with </li></ul><ul><li>c/o -breathlessness </li></ul><ul><li>-easy fatiguability </li></ul><ul><li> -6 mo duration. </li></ul>
  4. 4. <ul><li>H/o present illness: </li></ul><ul><li>-breathlessness (class 2) </li></ul><ul><li>-no h/o chest pain/palpitation </li></ul><ul><li>-no h/o orthopnea/PND </li></ul><ul><li>-no h/o cough,cold or fever </li></ul><ul><li>-no h/o haemoptysis </li></ul><ul><li>-no h/o leg swelling </li></ul><ul><li>-h/o easy fatigability </li></ul><ul><li>-h/o reduced urine output </li></ul>
  5. 5. <ul><li>Past history: </li></ul><ul><li>-not a k/c/o SHT,DM,CAD,PT </li></ul><ul><li>- k/c/o CKD on MHD x 6 mo </li></ul><ul><li>Personal history: </li></ul><ul><li>-mixed diet </li></ul><ul><li>-not a smoker or alcoholic </li></ul><ul><li>Family history: </li></ul><ul><li>- nil significant </li></ul>
  6. 6. <ul><li>General Examination: </li></ul><ul><li>Conscious </li></ul><ul><li>Oriented </li></ul><ul><li>Afebrile </li></ul><ul><li>Pallor </li></ul><ul><li>NOT dyspneoic /cyanosed /jaundiced/clubbing </li></ul><ul><li>Vitals: </li></ul><ul><li>Pulse-88/min </li></ul><ul><li>RR-18/min </li></ul><ul><li>BP-110/76 mm hg </li></ul>
  7. 7. <ul><li>Musculoskeletal Examination: </li></ul><ul><li>Left Shoulder- Sprengel’s deformity </li></ul>
  8. 8. Contd… Low hair line Short neck (ratio):-14.3 Ht-172 cm Neck-12 cm
  9. 9. SCOLIOSIS
  10. 10. ROM-FLEXION
  11. 11. ROM-EXTENSION
  12. 12. SIDE TO SIDE MOVEMENTS-restricted
  13. 13. SIDE TO SIDE MOVEMENTS-restricted
  14. 14. LATERAL FLEXION - LIMITED
  15. 15. <ul><li>Systemic Examination: </li></ul><ul><li>CVS: S1 S2 heard. No murmur. </li></ul><ul><li>RS : NVBS, No added sounds. </li></ul><ul><li>P/A : Soft, No organomegaly. </li></ul><ul><li>CNS: NFND . </li></ul>
  16. 16. Investigations : CBC 17-07-11 19-07-11 Hb 8 7.5 TC 8200 7100 DC P48 L50E2 P54L38E8 ESR 8/15 7/14 Platelets 2.5 L 2.3 L RBC 3.5 3.3 MCV 82 81 MCHC 32 32 MCH 26 27 PCV 26 24
  17. 17. <ul><li>RBS: 107 mg/dl </li></ul><ul><li>URINE R/E: Alb- 1+ </li></ul><ul><li>Sugar-nil </li></ul><ul><li>Deposits-5-6 pus cells. </li></ul><ul><li> -1-2 epi cells. </li></ul><ul><li> ECG- NSR. </li></ul>
  18. 18. RENAL FUNCTION TESTS: 17-07-11 19-07-11 20-07-11 22-07-11 UREA 158 172 132 110 CREATININE 7.4 11.2 6.2 5.6 ELECTROLYTES Na 142.7 136 144 140 K 5.13 5.0 4.7 4.8 Cl 94 - 96 - Sr.Calcium-8.4 mg/dl
  19. 19. <ul><li>USG ABDOMEN: </li></ul><ul><li>Liver: 13cm, Echo texture- Normal </li></ul><ul><li>GB: Normal </li></ul><ul><li>Pancreas: Normal </li></ul><ul><li>Spleen:10.7 cm </li></ul><ul><li>No free fluid </li></ul><ul><li>KIDNEYS: </li></ul><ul><li>Not visualised in the renal fossa. </li></ul><ul><li>LEFT ECTOPIC KIDNEY. </li></ul>
  20. 20. VIRAL MARKERS: HIV: NEGATIVE HBsAg: NEGATIVE Anti-HCV: NEGATIVE ANA- NEGATIVE RA- NEGATIVE C3 LEVELS- NORMAL IVU- COULD NOT BE DONE DTPA SCAN- NOT AFFORDABLE
  21. 21. <ul><li>ECHO : No RWMA Normal LV Systolic function NEPHRO OPINION : Advised HAEMODIALYSIS </li></ul>
  22. 22. <ul><li>ENT OPINION: </li></ul><ul><li>Left Pinna – absence of anti helix </li></ul><ul><li>PTA-mild conductive hearing loss </li></ul><ul><li> on left side. </li></ul>
  23. 23. Cervical-AP view
  24. 26. Thorax X-ray
  25. 27. Lumbar X-ray
  26. 28. Lumbar X-ray
  27. 30. `
  28. 35. CT ABDOMEN- <ul><li>- Left malrotated ectopic pelvic kidney </li></ul><ul><li>- Right kidney agenesis. </li></ul>
  29. 36. <ul><li>MRI NECK : </li></ul><ul><li>Congenital block vertebra at C5/C6 level with fusion of anterior and posterior elements and rudimentary dessicated intervertebral disc. </li></ul><ul><li>C2,C3 right sided facets are fused . </li></ul><ul><li>The left scapula is elevated, rotated with shortening of its vertebral border and a large omovertebral bone uniting with the spinous process of the C5/C6 vertebral body. </li></ul><ul><li>No e/o syrinx or spina bifida. </li></ul>
  30. 37. <ul><li>MRI ABDOMEN : </li></ul><ul><li>Both kidneys are absent in the renal fossa. </li></ul><ul><li>Malrotated ectopic left kidney noted just superior to the dome of bladder. </li></ul><ul><li>The left ureter is tortous and prominent and inserts on the left side of bladder. </li></ul><ul><li>No evidence of hydronephrosis. </li></ul><ul><li>Right kidney- Agenesis </li></ul>
  31. 38. <ul><li>FINAL OPINION : </li></ul><ul><li>Type II KLIPPEL FEIL ANOMALY with LEFT SPRENGEL SHOUDER. </li></ul><ul><li>RIGHT RENAL AGENESIS with CONTRACTED SOLITARY PELVIC LEFT KIDNEY. </li></ul>
  32. 39. <ul><li>PROBLEMS: </li></ul><ul><li>-ANEMIA </li></ul><ul><li>-CHRONIC KIDNEY DISEASE </li></ul><ul><li>-END STAGE RENAL DISEASE </li></ul><ul><li>-TYPE II KLIPPEL FEIL ANOMALY </li></ul><ul><li>-LEFT SPRENGEL SHOULDER </li></ul><ul><li>-RIGHT RENAL AGENESIS </li></ul><ul><li>-SOLITARY ECTOPIC PELVIC LEFT KIDNEY. </li></ul>
  33. 40. <ul><li>DIAGNOSIS: </li></ul><ul><li>TYPE II KLIPPEL FEIL SYNDROME WITH CHRONIC KIDNEY DISEASE. </li></ul>
  34. 41. CASE REPORTS: <ul><li>[A case of Klippel-Feil syndrome with crossed renal ectopia with fusion and unilateral vertebral artery occlusion]. </li></ul><ul><li>[Article in Japanese] </li></ul><ul><li>Hadeishi H, Ishikawa T, Suzuki A, Yasui N. </li></ul><ul><li>No Shinkei Geka. 1991 Feb;19(2):191-5. </li></ul><ul><li>Source </li></ul><ul><li>Department of Surgical Neurology, Research Institute for Brain and Blood Vessels, Akita. </li></ul>
  35. 42. <ul><li>Extensive Genitourinary Anomalies Associated With Klippel-Feil Syndrome </li></ul><ul><li>Robert S. Mecklenburg, MD; Philip M. Krueger, MD  </li></ul><ul><li>Am J Dis Child.  1974;128(1):92-93. </li></ul><ul><li>Abstract </li></ul><ul><li>Extensive genitourinary anomalies have not been well established   as an associated finding in patients with the Klippel-Feil syndrome.   A 15-year-old girl with this syndrome was discovered to have   major genitourinary malformations, including an imperforate   hymen and atretic lower vagina as well as absence of the uterus   and all but a small remnant of the fallopian tubes. No left   ovary was found by direct inspection, and an intravenous pyelogram   disclosed nonvisualization of the left kidney. The association   of extensive genitourinary abnormalities with the Klippel-Feil   syndrome is supported by this and two recently reported similar   cases. </li></ul>
  36. 43. <ul><li>Original article </li></ul><ul><li>The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia † </li></ul><ul><li>M.D.Peter A. Duncan a ,  b ,  c ,  d ,  e ,  f ,  g ,  h ,  i ,  k ,  , M.D.Lawrence R. Shapiro a ,  b ,  c ,  d ,  e ,  f ,  g ,  h ,  i ,  k , M.D.John J. Stangel a ,  b ,  c ,  d ,  e ,  f ,  g , h ,  i ,  k , M.D.Robert M. Klein a ,  b ,  c ,  d ,  e ,  f ,  g ,  h ,  i ,  k  and M.D.Joseph C. Addonizio a ,  b ,  c ,  d ,  e ,  f ,  g ,  h ,  i ,  k </li></ul><ul><li>Available online 28 February 2006.  </li></ul><ul><li>Two patients and 28 others in the literature were ascertained because of congenital vaginal agenesis associated with clinical and/or radiographic evidence of malformations derived from the cervicothoracic somites. In these patients, there was a high incidence of Müllerian duct aplasia/hypoplasia (96%), renal agenesis and/or ectopy (86%), and abnormalities related to cervicothoracic somite dysplasia, particularly 2 to 4 anomalous vertebrae located between C 5 -T 1  (80%). These consistent findings suggest a distinctive non-random association of malformations: Müllerian duct (MU) aplasia, renal (R) aplasia, and cervicothoracic somite (CS) dysplasia (MURCS). Identification of one component of the MURCS association suggests the presence of the other associated anomalies. A hypothesis for the embryogenic pathogenesis of the MURCS association is proposed which attributes the malformations to an alteration of the blastemas of the lower cervical-upper thoracic somites, arm buds, and pronephric ducts, all of which have an intimate spatial relationship at the end of the fourth week of fetal life. A presently unidentified teratogen may be one of the possible causes of the MURCS association on the basis of a lack of familial transmission, normal chromosomal studies, and the similar effects of a known teratogen (thalidomide) on the developing genitourinary tract. </li></ul><ul><li>† Supported in part by grants from the National Foundation-March of Dimes and the Birth Defects Institute of the New York State Department of Health. </li></ul><ul><li>Reprint address: Medical Genetics Unit, Westchester County Medical Center, Valhalla, NY 10595.  </li></ul>
  37. 44. CASE DISCUSSION: <ul><li>Klippel–Feil syndrome- </li></ul><ul><li>-1912 by Maurice Klippel and André Feil from France, characterized by the congenital fusion of any 2 of the 7 cervical vertebrae. </li></ul>Classic clinical triad - low posterior hairline - short neck - limitation of neck motion.
  38. 45. <ul><ul><li>FEIL’S CLASSIFICATION : </li></ul></ul><ul><ul><li> -Type I – massive fusion of many cervical and upper thoracic vertebrae with synostosis </li></ul></ul><ul><ul><li> -Type II – fusion of only 1 or 2 vertebrae (with hemivertebrae , scoliosis, occipito atlantoid fusion) </li></ul></ul><ul><ul><li> -Type III – presence of lower thoracic and upper lumbar spine anomalies with I/II </li></ul></ul><ul><ul><li> -Type IV – sacral agenesis </li></ul></ul>
  39. 46. <ul><li>SAMARTZIS and colleagues suggested a new classification system. </li></ul><ul><li>Type I- patients have a single-level fusion. </li></ul><ul><li>Type II- patients have multiple, noncontiguous fused segment. </li></ul><ul><li>Type III- patients have multiple, contiguous fused segments. </li></ul>
  40. 47. <ul><li>ETIOLOGY : </li></ul><ul><li>-Unknown </li></ul><ul><li>-Global fetal insult </li></ul><ul><li>-Vascular disruption </li></ul><ul><li>-Autosomal dominant inheritance is especially associated with C2-C3 fusion. </li></ul><ul><li>-Autosomal recessive inheritance is especially associated with C5-C6 fusion. </li></ul><ul><li>-Autosomal dominant gene mapped on locus 8q22.2(mutations in GDF6) </li></ul>
  41. 48. Presentations: <ul><li>- Incidence 1 in 42,000 </li></ul><ul><li>-majority in females. </li></ul><ul><li>-Patients with Klippel-Feil Syndrome may be identified at any age. </li></ul><ul><li>-The cosmetic deformity (with massive fusions) is often noted in infancy or in early childhood. </li></ul><ul><li>- Cervical fusions at the lower level present later in life (30's +), when degenerative changes or instability of adjacent segments develops. </li></ul>
  42. 49. Cervical Stenosis… <ul><li>Torg ratio: </li></ul><ul><li>-diameter of cervical canal: to width of cervical body(<0.80 as seen on the lateral view-cervical stenosis is present) </li></ul><ul><li>Pavlov ratio: </li></ul><ul><li>-canal-vertebral body width </li></ul><ul><li>-ratio<0.85 indicates stenosis( Normal-1) </li></ul><ul><li>-ratio<0.80 congenitally narrow canal(risk factor for neurological injury). </li></ul>
  43. 50. ASSOCIATIONS: <ul><li>The anomalies associated with Klippel-Feil Syndrome include: </li></ul><ul><li>Scoliosis (60%) </li></ul><ul><li>Renal abnormalities (35%) </li></ul><ul><li>Sprengel deformity (30%) </li></ul><ul><li>Deafness (30%) </li></ul><ul><li>Mirror motion (synkinesis) (20%) </li></ul><ul><li>Congenital Heart Disease (15%) </li></ul><ul><li>Ptosis,Lateral Rectus palsy </li></ul><ul><li>Facial nerve palsy </li></ul><ul><li>Syndactyly, Hypoplastic thumb </li></ul><ul><li>Upper extremity hypoplasia, Neurenteric cyst . </li></ul>
  44. 51. <ul><li>MANAGEMENT: </li></ul><ul><ul><li>-Medical therapy depends on the congenital anomalies present in the syndrome. </li></ul></ul><ul><ul><li>-Referrals to </li></ul></ul><ul><ul><li>1.Nephrology </li></ul></ul><ul><ul><li>2.Urology </li></ul></ul><ul><ul><li>3.Cardiology </li></ul></ul><ul><ul><li>4.ENT </li></ul></ul><ul><ul><li>-Should avoid contact sports that place neck at risk. </li></ul></ul><ul><ul><li>- Cervical collar, analgesics, NSAIDS, or careful traction can be used. </li></ul></ul>
  45. 52. CONTD… <ul><ul><li>For neurologic compromise- </li></ul></ul><ul><ul><li>-Fusion of the appropriate segments posteriorly & decompression. </li></ul></ul><ul><ul><li>-Dislocations and basilar invagination are treated by careful traction followed by posterior fusion. </li></ul></ul><ul><ul><ul><li>-Neurologic deficits and persistent pain are indications for surgery </li></ul></ul></ul>
  46. 53. TRIVIA… <ul><li>The 18th Dynasty Egyptian pharaoh Tutankhamen is believed by some to have suffered from Klippel–Feil syndrome. </li></ul><ul><li>A more recent case is the English cricketer Gladstone Small . </li></ul>
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