A Case of Klippel Feil anomaly with Sprengel Shoulder

An Interesting Case Of CKD

Prof.Dr.G.Sundaramurthy’s unit.

Dr.B.Gowri shankar.PG M6

Case Profile

Name: Annadurai

Age: 21 yrs.

Sex: Male

Occupation:coolie

Address : Kanchipuram

21 yrs. old male presented with

c/o -breathlessness

-easy fatiguability

-6 mo duration.

H/o present illness:

-breathlessness (class 2)

-no h/o chest pain/palpitation

-no h/o orthopnea/PND

-no h/o cough,cold or fever

-no h/o haemoptysis

-no h/o leg swelling

-h/o easy fatigability

-h/o reduced urine output

Past history:

-not a k/c/o SHT,DM,CAD,PT

-k/c/o CKD on MHD x 6 mo

Personal history:

-mixed diet

-not a smoker or alcoholic

Family history:

- nil significant

General Examination:

Conscious

Oriented

Afebrile

Pallor

NOT dyspneoic /cyanosed /jaundiced/clubbing

Vitals:

Pulse-88/min

RR-18/min

BP-110/76 mm hg

Musculoskeletal Examination:

Left Shoulder- Sprengel’s deformity

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

Systemic Examination:

CVS: S1 S2 heard. No murmur.

RS : NVBS, No added sounds.

P/A : Soft, No organomegaly.

CNS: NFND.

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

RBS: 107 mg/dl

URINE R/E: Alb- 1+

Sugar-nil

Deposits-5-6 pus cells.

-1-2 epi cells.

ECG- NSR.

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

USG ABDOMEN:

Liver: 13cm, Echo texture- Normal

GB: Normal

Pancreas: Normal

Spleen:10.7 cm

No free fluid

KIDNEYS:

Not visualised in the renal fossa.

LEFT ECTOPIC KIDNEY.

VIRAL MARKERS:HIV: NEGATIVE

HBsAg: NEGATIVE Anti-HCV: NEGATIVE

ANA- NEGATIVE RA- NEGATIVEC3 LEVELS- NORMAL

IVU- COULD NOT BE DONEDTPA SCAN- NOT AFFORDABLE

ECHO: No RWMA Normal LV Systolic function

NEPHRO OPINION: Advised HAEMODIALYSIS

ENT OPINION:

Left Pinna – absence of anti helix

PTA-mild conductive hearing loss

on left side.

Cervical-AP view

Thorax X-ray

Lumbar X-ray

Lumbar X-ray

`

CT ABDOMEN-

- Left malrotated ectopic pelvic kidney

- Right kidney agenesis.

MRI NECK:

Congenital block vertebra at C5/C6 level with fusion of anterior and posterior elements and rudimentary dessicated intervertebral disc.

C2,C3 right sided facets are fused.

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.

No e/o syrinx or spina bifida.

MRI ABDOMEN:

Both kidneys are absent in the renal fossa.

Malrotated ectopic left kidney noted just superior to the dome of bladder.

The left ureter is tortous and prominent and inserts on the left side of bladder.

No evidence of hydronephrosis.

Right kidney- Agenesis

FINAL OPINION:

Type II KLIPPEL FEIL ANOMALY with LEFT SPRENGEL SHOUDER.

RIGHT RENAL AGENESIS with CONTRACTED SOLITARY PELVIC LEFT KIDNEY.

PROBLEMS:

-ANEMIA

-CHRONIC KIDNEY DISEASE

-END STAGE RENAL DISEASE

-TYPE II KLIPPEL FEIL ANOMALY

-LEFT SPRENGEL SHOULDER

-RIGHT RENAL AGENESIS

-SOLITARY ECTOPIC PELVIC LEFT KIDNEY.

DIAGNOSIS:

TYPE II KLIPPEL FEIL SYNDROME WITH CHRONIC KIDNEY DISEASE.

CASE REPORTS:

• [A case of Klippel-Feil syndrome with crossed renal ectopia with fusion and unilateral vertebral artery occlusion].

• [Article in Japanese]• Hadeishi H, Ishikawa T, Suzuki A, Yasui N.• No Shinkei Geka. 1991 Feb;19(2):191-5.

Source• Department of Surgical Neurology, Research

Institute for Brain and Blood Vessels, Akita.

• Extensive Genitourinary Anomalies Associated With Klippel-Feil Syndrome

• Robert S. Mecklenburg, MD; Philip M. Krueger, MD 

• Am J Dis Child. 1974;128(1):92-93.•

Abstract•

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.

• Original article• The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia†

• M.D.Peter A. Duncana, b, c, d, e, f, g, h, i, k, , M.D.Lawrence R. Shapiroa, b, c, d, e, f, g, h, i, k, M.D.John J. Stangela, b, c, d, e, f, g,h, i, k, M.D.Robert M. Kleina, b, c, d, e, f, g, h, i, k and M.D.Joseph C. Addonizioa, b, c, d, e, f, g, h, i, k

• Available online 28 February 2006. •

• 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 C5-T1 (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.

• †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.

•Reprint address: Medical Genetics Unit, Westchester County Medical Center, Valhalla, NY 10595. 

•

CASE DISCUSSION:

Klippel–Feil syndrome-

-1912 by Maurice Klippel and André Feil from France, characterized by the congenital fusion of any 2 of the 7 cervical vertebrae.

Classic clinical triad - low posterior hairline- short neck - limitation of neck motion.

FEIL’S CLASSIFICATION:

-Type I – massive fusion of many cervical and upper thoracic vertebrae with synostosis

-Type II – fusion of only 1 or 2 vertebrae (with hemivertebrae , scoliosis, occipito atlantoid fusion)

-Type III – presence of lower thoracic and upper lumbar spine anomalies with I/II

-Type IV – sacral agenesis

SAMARTZIS and colleagues suggested a new classification system.

Type I- patients have a single-level fusion.

Type II- patients have multiple, noncontiguous fused segment.

Type III- patients have multiple, contiguous fused segments.

ETIOLOGY:

-Unknown

-Global fetal insult

-Vascular disruption

-Autosomal dominant inheritance is especially associated with C2-C3 fusion.

-Autosomal recessive inheritance is especially associated with C5-C6 fusion.

-Autosomal dominant gene mapped on locus 8q22.2(mutations in GDF6)

Presentations:

- Incidence 1 in 42,000

-majority in females.

-Patients with Klippel-Feil Syndrome may be identified at any age.

-The cosmetic deformity (with massive fusions) is often noted in infancy or in early childhood.

- Cervical fusions at the lower level present later in life (30's +), when degenerative changes or instability of adjacent segments develops.

Cervical Stenosis…

Torg ratio:

-diameter of cervical canal: to width of cervical body(<0.80 as seen on the lateral view-cervical stenosis is present)

Pavlov ratio:

-canal-vertebral body width

-ratio<0.85 indicates stenosis( Normal-1)

-ratio<0.80 congenitally narrow canal(risk factor for neurological injury).

ASSOCIATIONS:

The anomalies associated with Klippel-Feil Syndrome include: •Scoliosis (60%) •Renal abnormalities (35%) •Sprengel deformity (30%) •Deafness (30%)• Mirror motion (synkinesis) (20%)• Congenital Heart Disease (15%) •Ptosis,Lateral Rectus palsy• Facial nerve palsy •Syndactyly, Hypoplastic thumb •Upper extremity hypoplasia, Neurenteric cyst .

MANAGEMENT:

-Medical therapy depends on the congenital anomalies present in the syndrome.

-Referrals to

1.Nephrology

2.Urology

3.Cardiology

4.ENT

-Should avoid contact sports that place neck at risk. - Cervical collar, analgesics, NSAIDS, or careful traction can be used.

CONTD…

For neurologic compromise-

-Fusion of the appropriate segments posteriorly & decompression.

-Dislocations and basilar invagination are treated by careful traction followed by posterior fusion.

-Neurologic deficits and persistent pain are indications for surgery

TRIVIA…

• The 18th Dynasty Egyptian pharaoh Tutankhamen is believed by some to have suffered from Klippel–Feil syndrome.

• A more recent case is the English cricketer

Gladstone Small.