Klippel Feil syndrome with crossed fused renal ectopia with pelviureteric junction obstruction: A rare association

Abstract

An 11-year-old female patient presented with congenital spinal deformity with a history of occasional pain in the right flank for a duration of six months. On evaluation, she was diagnosed to be a case of type III Klippel Feil syndrome (KFS) with crossed fused renal ectopia (left to right) and pelviureteric junction obstruction (PUJO) of the right moiety. The patient underwent successful pyeloplasty of the right moeity. To the best of our knowledge, this is the first reported case in the literature with a combination of KFS, crossed fused renal ectopia, and PUJO.

Introduction

Klippel Feil syndrome (KFS) is a rare congenital condition with a reported incidence of 1 in 42,000 newborns with a slight female preponderance, the M:F ratio being 1:1.3.¹ It comprises skeletal deformities characterized by the fusion of various cervical and occasionally thoracic and lumbar vertebrae.³ KFS is also associated with genitourinary, musculoskeletal, neurologic, and cardiac anomalies.² We report a rare case of type 3 KFS with crossed fused renal ectopia (left to right) and pelviureteric junction obstruction (PUJO) (right).

Case report

An eleven-year-old female patient born to non-consanguineous parents with no family history of congenital spinal abnormalities reported to the outpatient department with complaints of spinal deformity since birth and occasional pain in the right flank for a duration of six months. She had a low hairline, webbed neck, scoliosis of the cervical spine (convexity to the right), scoliosis of the dorsal spine (convexity to the right), restricted neck movements, and Sprengel's deformity of the right shoulder (Fig. 1). The patient had associated ptosis of the left eye and absent left eyelid crease (Fig. 2). The eye movements, visual acuity, and fundus examination were essentially normal. A vague, non-ballotable, non-tender lump was palpable in the right lumbar region. The ear, nose, and throat evaluation of the patient was essentially normal.

Fig. 1.

Low hairline, webbing of the neck, scoliosis of the cervical and dorsal spine, and Sprengel's deformity of the right shoulder.

Fig. 2.

Ptosis of the left eye with absent left eyelid crease.

Radiograph of the cervical spine and chest (Fig. 3) showed fusion of cervical bodies C4–7, occipitalization of the atlas, and spina bifida C3–C4. In addition, Magnetic Resonance Imaging (MRI) examination of the spine revealed butterfly vertebrae C4–6, blocked vertebrae C5–6, tripedicular vertebrae D1–2, D3–4, hemivertebrae D8, and blocked vertebrae L2–3. Two-dimensional Echocardiography (ECHO) was normal, and Ultrasonography (USG) of the abdomen and pelvis showed an empty left renal fossa with the left kidney fused to the right kidney across the midline with the hydronephrotic right kidney. The diuretic renogram (Fig. 4) revealed an ectopic left moiety in the midline fused to a hydronephrotic right kidney with a dilated pelvicalyceal system (right) throughout the dynamic phase with an obstructive curve pattern and a split function of 30.1% on the right side. Magnetic resonance (MR) urography confirmed a sigma-shaped crossed fused ectopia (left to right) with PUJO of the right moiety (antero-posterior (AP) diameter of the renal pelvis, 27 mm) (Fig. 5).

Fig. 3.

Radiograph of the cervical spine and chest: fusion of cervical bodies C4–7, occipitalization of the atlas, spina bifida C3–C4.

Fig. 4.

Renal dynamic scan: ectopic left moiety in the midline fused to a hydronephrotic right kidney with dilated pelvi-calyceal system (PCS) throughout the dynamic phase with an obstructive curve pattern on the right side.

Fig. 5.

Magnetic resonance (MR) urogram (sagittal view): an empty left renal fossa with a left crossed fused ectopic kidney seen to be fused with the lower pole of the right kidney, crossing the midline with PUJO of the right moiety. PUJO, pelviureteric junction obstruction.

In view of symptoms with an associated lump and an obstructive pattern on renal scan, the patient underwent Anderson-Hynes pyeloplasty (right) through the anterior extraperitoneal approach. Postoperative period was uneventful, and the child is on regular follow-up and is due for her six-monthly renal scan.

Discussion

In 1912, Klippel et al.⁴ described this eponymous syndrome that comprises complex skeletal and visceral abnormalities and is characterized by the congenital fusion of various segments of the cervical vertebrae that may be associated with thoracic and lumbar vertebrae fusion as well. The classical clinical triad as seen in our patient comprises low posterior hairline, short neck, and limitation of neck movements, and the symptoms are seen in less than 50% of patients with KFS.

The commonly used classification of this syndrome is the one Feil defined in 1919 by classifying KFS into three types⁵ as follows:

Type 1: Massive fusion of the cervical and upper thoracic vertebrae.

Type 2: Fusion of the vertebrae at only one or two interspaces.

Type 3: Both cervical and lower thoracic or lumbar fusion.

Although most of the reported cases of type 1 KFS have been sporadic, type 2 KFS is transmitted both as an autosomal dominant and recessive disorder, and type 3 KFS, as seen in our case, is inherited in an autosomal recessive fashion. Type 2 KFS is the commonest type with an incidence of 7.3 in 1000 patients, the most common site of vertebral fusion being C2–3 and C5–6, and type 1 and 3 are relatively rarer_.⁶

Embryologically, the cervical vertebrae and the genitourinary tract differentiate at the same time and in the same vicinity of the embryo. Thus, any faulty segmentation along the embryo's developing axis during the 3rd to 8th week of gestation could result in KFS along with associated renal anomalies.⁷ The chromosomal abnormalities associated with KFS are translocation t (5; 17) (q11.2; q23), chromosome 2, inv (2) (p12q34), and a paracentric inversion of chromosome 8, inv (8) (q22.2q23.3).²

The incidence of urogenital anomalies associated with KFS is about 35%, and the most common associated renal anomaly is unilateral renal agenesis. Crossed renal ectopia, duplication of the collecting system, and bilateral renal agenesis are other renal anomalies associated with the syndrome.⁸ The literature search revealed reports of PUJO with crossed fused renal ectopia⁹ and KFS with crossed fused renal ectopia.¹⁰ However, to the best of our knowledge, our case is the first to report a combination of KFS, crossed fused renal ectopia with associated PUJO in the same patient.

The purpose of this report is to create awareness about this rare entity and also to stress on the aspect of a thorough and meticulous workup to rule out associated anomalies that may be amenable to surgical correction.

Conflicts of interest

The authors have none to declare.