A boy who had multiple problems in lower extremity

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Presentation transcript:

A boy who had multiple problems in lower extremity Hui Taek Kim, M.D Department of Orthopaedic Surgery Pusan National University Hospital

Brief history At birth : foot presentation (at a maternity hospital) At 2 wks after birth : Bilt. feet → cast Tx for 4 weeks (another clinic) At 1y 5 m : Bilt. vertical talus → open reduction At 2 y 4 m : Bilt. hip dislocation → open reduction At 10 y 9 m : Rt. VRO, Lt. VDRO At 13 y 9 m : Rt. hip subluxation → Rt. Steel’s triple OT, VDRO Genu valgum → hemiepiphysiodesis with staple Rt. Achilles tightness → Rt. TAL Cryptorchism → Rt. orchiopexy, testis biopsy • At 14 y 9 m : External tibial torsion → Bilt. T-F IR OT

1. Vertical talus - open reduction at 1 yr 6 mos

At 8 yr 9 mo POP 7 yr 3 mo

At 15 yr 5 mo POP 14 yr (Last F/U)

2. Bilateral hip dislocation At 2 yrs 3 mos → Bilateral OR At 8 yrs 9 mos POP 6 yrs 5 mos

Anteversion 60° 26° At 10 yrs 9 mos

At 10yr 9 mo Rt. VDRO, Lt. VRO

3 yrs after second operation Anteversion 45° 23° At 13yrs 9 mos 3 yrs after second operation

Rt. triple innominate OT, Rt. VDRO (15° varus, 25° derotation) At 13yr 9 mo Rt. triple innominate OT, Rt. VDRO (15° varus, 25° derotation)

Rt. femoral anteversion: 35° Lt. femoral anteversion 32°

At 15 yr 5 mo Last F/U

3. Genu valgum

Preop 13 yr 6 mo POP 4 Mo 13 yr 10 mo POP 5 Mo 13 yr 11 mo

At 15 yr 4 mo

4. Lateral tibial torsion

전면 보행

FPA : 60° → 40° correction FPA : 30° → 10° correction

Knee neutral position

45° 35° 40° 35°

Knee neutral 42° 47°

TFA : 45° TFA : 45°

Tibial torsion 63° 54°

Tibial torsion 25° 21° At 14 yr 9 mo T-F IR OT

At 15 yr 5 mo (Last F/U)

5. Muscle weakness of L/E • Waddling gait • Rt. Achilles tightness • Weak muscle strength of lower limb (3/5 in proximal region, 4/5 in distal region) • Absent to hypoactive DTR of lower extremities

EMG-NCV (at 10 yrs 1 mo) • Multiple lumbar nerve root lesion with myelopathy and/or its complication (eg. cord tethering). • No problem on bladder and bowel. • Possibility of arthrogryposis multiplex congenita could not be ruled out.

L-spine MRI (at 10 yrs 1 mo) T2 sagittal T1 sagittal

T12 / L1 L1 / L2 L2 / L3 L3 / L4 L4 / L5 L5 / S1

6. Rt. cryptorchism At 13 yrs 9 mos: Rt. orchiopexy, testis biopsy → maturation arrest scanty germ cells and mostly sertolli cells

Discussion Diagnosis: a syndrome ? Progressive deformities of the lower extremity associated with muscle weakness ?