|Year : 2017 | Volume
| Issue : 3 | Page : 303-306
Klippel–Feil syndrome with inherited coagulopathy: A rare case report
Sameer Bansal, Ketaki Utpat, Jyotsna M Joshi
Department of Pulmonary Medicine, T. N. Medical College and B. Y. L. Nair Hospital, Mumbai, Maharashtra, India
|Date of Web Publication||19-May-2017|
Jyotsna M Joshi
Department of Pulmonary Medicine, T. N. Medical College and B. Y. L. Nair Hospital, Mumbai - 400 008, Maharashtra
Source of Support: None, Conflict of Interest: None
Klippel–Feil syndrome is a rare disease known to be associated with many musculoskeletal as well as somatic diseases. Thromboembolism is one of the complications, which although rarely described earlier with this syndrome, can be life-threatening. Earlier case reports have attributed it to structural abnormalities seen in this syndrome. We, however, report a rare instance of inherited coagulopathy seen with Klippel–Feil syndrome, leading to pulmonary thromboembolism.
Keywords: Ectopic, protein S, thromboembolism
|How to cite this article:|
Bansal S, Utpat K, Joshi JM. Klippel–Feil syndrome with inherited coagulopathy: A rare case report. Med J DY Patil Univ 2017;10:303-6
| Introduction|| |
Klippel–Feil syndrome, according to some studies has an incidence of 0.71%. It is usually an incidentally detected condition that is associated with many other systemic abnormalities. Recognition of these associations with an extensive workup and early treatment is of paramount importance, especially in cases of potentially fatal conditions such as pulmonary thromboembolism.
| Case Report|| |
A 41-year-old man, nonaddict, receptionist by occupation, known hypertensive, was referred by urology for complaints of dyspnea and cough. He first followed with urology for complaints of loin pain, where he was evaluated with ultrasonography, which showed right ectopic kidney. He was referred to us for complaints of dyspnea and cough for 2 months. History was significant for an atrial septal defect, which was operated on 25 years back. On examination, his vital parameters were normal. He had a short stature, webbed neck, low hairline, and decreased rotational motion around the neck [Figure 1]. Respiratory system examination was within normal limits. Contrast-enhanced computed tomography (CT) of thorax showed patchy consolidation in posterior basal segment of the right lower lobe, with a pulmonary artery thrombus involving an inferior branch of the right pulmonary artery. Subsequently, a CT pulmonary angiography was done which showed partially occluding thrombus in distal right descending pulmonary artery, and a small right atrial thrombus [Figure 2]. Abdominal sections of the CT scan showed normal position of the left kidney with an ectopic right kidney [Figure 3]. X-ray of cervical spine showed fusion of C4–C5 vertebral bodies, with sparing of the spinous processes [Figure 4]. There was no scoliosis, craniofacial abnormalities, synkinesia, hearing problems, or limb deformities. A 2-dimensional echocardiography revealed left ventricular hypertrophy, mild pulmonary hypertension, and normal right ventricular function. A working diagnosis of Klippel–Feil syndrome with pulmonary thromboembolism was made. Anticoagulation was initiated with low molecular weight heparin enoxaparin 1.5 mg/kg, and the patient was then investigated for cause of thrombosis. Blood investigations were sent for thrombophilia profile including serum homocysteine levels, MTHFR mutation, protein C and S levels, factor V Leiden mutation, antithrombin III levels, antiphospholipid antibodies, activated protein C deficiency, and anticardiolipin antibodies. It revealed decreased levels of protein S. The patient was then started on warfarin while titrating internationalized ratio between 2 and 3, his antihypertensives were continued, and he was discharged in a stable condition. At 4 months of follow-up, the patient is stable and relieved of his symptoms of dyspnea and cough.
|Figure 2: Computed tomography pulmonary angiogram showing right descending pulmonary artery thrombosis|
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|Figure 3: Abdominal computed tomography showing normal position of the left kidney and a missing right kidney|
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Klippel–Feil syndrome is a rare disorder characterized by the congenital fusion of any two of the seven cervical vertebrae. The syndrome is classified by Samartzis et al. into three categories  viz.:
- Type I - Single-level fusion
- Type II - Multiple, noncontiguous fused segments
- Type III - Multiple, contiguous fused segments.
Our patient had a fusion of C4–C5 vertebral bodies, and hence was classified as Type I Klippel–Feil syndrome.
It is a rather heterogeneous disorder, including many skeletal abnormalities and somatic diseases. The syndrome manifests in different forms in different patients. The most common, and visibly recognized is however decreased range of neck movements with an occasionally low neck hairline. These patients usually have a short stature, may have accompanying scoliosis, and certain neurological deficits. Other commonly encountered structural defects include cleft lip and palate, scoliosis, spina bifida, Sprengel's deformity, and dental problems.,, Many somatic diseases are also associated with this syndrome. Most commonly encountered ones are urogenital system anomalies, anomalies of the cardiovascular system, deafness or hearing loss, facial asymmetry and platybasia, synkinesis or mirror movements, anomalies of gastrointestinal tract, and congenital heart defects.,,,
Klippel–Feil is detected throughout life, often as an incidental finding, as was in our case. Patients with restricted neck movements, scoliosis, and facial abnormalities tend to present at an earlier age. Our patient had a history of the corrected atrial septal defect, and an incidentally detected right ectopic kidney. On presentation to our side, we picked up decreased the range of movements at the neck joint and found that he had C4–C5 fusion on a neck X-ray. Thus, we detected Klippel–Feil syndrome as an incidental finding.
The coexistence of venous thromboembolism (VTE) and Klippel–Feil syndrome has been reported only sporadically in literature which includes a few rare cases of deep vein thrombosis, vertebral artery thrombosis,, and pulmonary thromboembolism. The association is postulated to be due to underlying structural defect. One case report demonstrated the presence of IVC duplication resulting in small caliber of the vessel and consequent thrombosis. Another case report showed vertebral artery dissection leading to complete thrombosis of the basilar artery. The condition is essentially salvageable with the prompt institution of anticoagulant or thrombolytic therapy. Although the incidence is fairly uncommon, it can prove to be fatal if the diagnosis is delayed. Our patient had pulmonary thromboembolism, the cause for which was identified to be congenital protein S deficiency. Protein S deficiency is an inherited coagulopathy which can manifest clinically as thromboembolic phenomena. Inherited thrombophilias as a contributory factor for VTE in Klippel–Feil syndrome has not been reported in literature yet.
Diagnosis of Klippel–Feil syndrome is through imaging, and an extensive workup should be sought to identify different abnormalities once this syndrome is suspected. There has been a postulated genetic linkage to this syndrome, through MEOX1 mutations, although not every patient with this syndrome carries these mutations.,, Still, others have attributed this disease to a fetal insult, while some have considered it to be a consequence of vascular disruption., Treatment focuses mainly on correction of bony abnormalities and any associated disease. Our case highlights that potentially life-threatening conditions such as VTE may also be associated with this syndrome, which may require lifelong therapy. An extensive workup for identifying the same should be carried out whenever clinically relevant for early diagnosis and treatment of potentially lethal complications. To the best of our knowledge, the association of Kippel–Feil syndrome with VTE is extremely rare and inherited coagulopathy as a causal factor for the same has not been reported previously in literature.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]