Case Of Klippel-Feil Syndrome Research Articles

7443 Severe Hypothyroidism and Adrenal Insufficiency in a 27-Year-Old Male with Klippel-Feil Syndrome: A Case Report

Abstract Disclosure: S. Almardini: None. F. Haddadin: None. L. Aoun: None. F. Saliba: None. J. Zaidan: None. Background: Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by improper segmentation of the cervical vertebrae. The classical clinical triad consists of short neck, low posterior hairline, and limited neck mobility. It is uncommonly associated with endocrine abnormalities. We present a rare case of KFS with severe primary hypothyroidism. Case Presentation: A 27-year-old male with KFS presented for evaluation of profound fatigue and lack of energy. His vital signs revealed a heart rate of 50 and a borderline low blood pressure. On physical exam patient was noted to be lethargic and icteric, thyroid exam was limited due to patient short neck. Labs were consistent with severe hypothyroidism TSH of 825 mIU/L, total T4 <0.4 mcg/dL, low 8 AM cortisol of 4.3 mcg/dL, elevated LDL at 333 mg/dL, elevated liver enzymes AST 491 U/L, ALT 294 U/L, neutropenia with WBC 2.69 x10^3/uL 20% neutrophils and anemia Hb 12 g/dL. TPO and thyroglobulin antibodies were positive at 149.0 and 109.0 IU/mL respectively, 21 hydroxylase antibodies were negative. Thyroid Ultrasound showed small and diffusely heterogenous thyroid. Patient was started on Levothyroxine 125 mcg daily and hydrocortisone with improvement in his symptoms as well as normalization of his lipid panel, liver enzymes and neutropenia. The patient was continued on levothyroxine 125 mcg, hydrocortisone was tapered and repeat cortisol levels were normal. Discussion: This case demonstrates an unusual association between KFS and hypothyroidism secondary to Hashimoto thyroiditis, likely representing an incidental finding rather than a causative relationship. The cervical spinal abnormalities and short neck characteristic of KFS could potentially lead to compression of neurological and vascular structures in the neck. However, this is unlikely to fully explain our patient's hypothyroidism. There are few published case reports of KFS with endocrine disorders in the literature that describe incidental findings like autoimmune thyroiditis and hypoparathyroidism, but there is no known biological mechanism linking KFS and endocrine dysfunction. Moreover, there is no evidence in either our patient's case or in existing literature to suggest a higher occurrence of autoimmune disorders like Hashimoto in such individuals. Conclusion: we present a novel case of KFS found incidentally with primary hypothyroidism. While these endocrine disorders could compound the growth delay and developmental issues typically seen in KFS, they do not appear to be causally related. This case highlights the need to monitor endocrine function in KFS patients and serves as a reminder that common conditions may co-occur simply by chance. Presentation: 6/3/2024

Rare Case of Klippel Feil Syndrome Associated with Mirror Movements

Klippel Feil Syndrome (KFS) is a multisystem disorder with the typical clinical trial of short neck, restriction of headand neck movements and low posterior hairline and associated with anomalies of the urogenital, musculoskeletal, neurological andcardiovascular systems. Here is a case report of a young boy with history of abnormal head and upper limbs movements alongwith repeated bowing of head since the age of 6 months. He also had frequent falls with repeated minor trauma to the face.Antenatal and peripartum period was uneventful and child had no neonatal complications with normal development. Onexamination the child had abnormal head position with bowing, short neck and low hair line. Musculoskeletal system examinationrevealed decreased range of passive movements at cervical spine extension and lateral flexion with no focal neurological deficits.Further examination revealed Mirror movements (synkinesis) in the upper limbs. Mirror movements are the involuntarymovements of one body part that mirror intentional movements on the opposite side. Other Systemic examinations were normal.CT Cervical spine showed fusion of the upper three cervical vertebrae and the child was diagnosed as a case of klippel feil syndrometype 2 presenting with mirror movements. This rare case of klippel feil syndrome is being presented with the aim that such casesshould be detected and treated at an early stage to reduce the cosmetic & social stigma to the patient and parents. This casereport also gives a brief overview of associated features of KFS along with its management.

Brown Sequard syndrome in a patient with Klippel-Feil syndrome following minor trauma: a case report and literature review

BackgroundThere are some cases of Klippel-Feil syndrome with spinal cord injury in clinical work. However, there is no literature report on Brown-Sequard syndrome after trauma. We report a case of Brown-Sequard syndrome following minor trauma in a patient with KFS type III. Her Brown-Sequard syndrome is caused by Klippel-Feil syndrome.Case presentationWe found a 38-year-old female patient with KFS in our clinical work. She was unconscious on the spot following a minor traumatic episode. After treatment, her whole body was numb and limb activity was limited. Half an hour later, she felt numb and weak in the right limb and weak in the left limb. She had no previous hypertension, diabetes, or coronary heart disease. After one-month treatment of medication, hyperbaric oxygen, rehabilitation, and acupuncture in our hospital, her muscle strength partially recovered, but the treatment effect was still not satisfactory. Then, she underwent surgical treatment and postoperative comprehensive treatment, and rehabilitation training. She was able to take care of herself with assistance, and her condition improved from grade B to grade D according to the ASIA (ASIA Impairment Scale) classification.ConclusionKFS, also known as short neck deformity, is a kind of congenital deformity characterized by impaired formation and faulty segmentation of the cervical spine, often associated with abnormalities of other organs. The cervical deformity in patients with KFS can alter the overall mechanical activity of the spine, as well as the compensatory properties of the spine for decelerating and rotatory forces, thus increasing the chance of spinal cord injury (SCI) following trauma. Many mechanisms can make patients more susceptible to injury. Increased range of motion of the segment adjacent to the fused vertebral body may lead to slippage of the adjacent vertebral body and altered disc stress, as well as cervical instability. SCI can result in complete or incomplete impairment of motor, sensory and autonomic nervous functions below the level of lesion. This woman presented with symptoms of BSS, a rare neurological disorder with incomplete SCI. Judging from the woman’s symptoms, we concluded that previously she had KFS, which resulted in SCI without fracture and dislocation following minor trauma, with partial BSS.After the comprehensive treatment of surgery, hyperbaric oxygen, rehabilitation therapy, and neurotrophic drugs, two years later, we found her symptoms significantly improved, with ASIA Impairment Scale from grade B to grade D, and her ability to perform activities of daily living with aids.

Klippel-Feil syndrome cases from Slovakia

ObjectiveThis study analyzes two probable cases of Klippel-Feil syndrome (KFS) from the region of modern Slovakia and provides an overview of possible cases reported in ‘grey’ literature. MaterialsTwo adult skeletons with probable KFS from Vráble-Veľké Lehemby and Radoľa-Koscelisko. MethodsMacroscopic analysis was performed using standard osteological methods. ResultsThe two analyzed skeletons represent probable cases of KFS; one from the Neolithic, and one from the Middle Ages. Additional cases of potential KFS have been indicated within the ‘grey’ literature. ConclusionsThe study shows that KFS was present in prehistoric eastern Central Europe. The few cases of ancient rare diseases may be a result of past and present bioarcheological research, and many cases are hidden within ‘grey’ literature. A re-examination of older datasets is vital. SignificanceThe described cases from modern Slovakia contributes to a limited list of archaeological cases, thus widening our knowledge about the occurrence of this rare condition throughout Europe in the past. LimitationsThe state of past and present osteo-archaeological research in eastern Central Europe, poor preservation of some remains, and lack of pathognomonic features associated with KFS. Suggestions for further researchSystematic review of older skeletal assemblages and ‘grey’ literature.

A rare case of klippel feil syndrome with cleft palate: A case report

Klippel-Feil syndrome (KFS) is a rare condition also known as synostosis of cervical spine, first described in the medical literature in 1912. It consists of the triad of symptoms such as short neck, limitation of neck movements, and low posterior hairline and also associated with somatic diseases and defects such as scoliosis, anomalies in urogenital system, congenital heart defects, deafness, facial asymmetry, synkinesis, or mirror movements. KFS manifests in the oral cavity with cleft palate, limitation of mouth opening, hypodontia oligodontia, and micrognathia.

Klippel-Feil syndrome with upper cervical intradural arachnoid cyst

Klippel-Feil syndrome can be seen with bony anomalies of the craniocervical junction and syringomyelia. However, association of Klippel-Feil syndrome with upper cervical arachnoid cyst has not been reported previously. This report demonstrates clinical and radiological features of a case of Klippel-Feil syndrome complicated by Chiari I malformation, upper cervical arachnoid cyst and syringomyelia. A 7-year-old girl was evaluated due to headache, neck pain and restricted cervical movements. Craniocervical evaluation of the case demonstrated Chiari I malformation, partial fusion defect at C2-C3, C5-C6 vertebrae, upper cervical arachnoid cyst and cervicothoracal syringomyelia. Suboccipital craniectomy, C1 laminectomy, arachnoid cyst excision, and duraplasty with autologous fascia lata were performed. The headache and the neck pain of the patient improved after the operation. The arachnoid cyst did not recur.

Two Cases of Klippel-Feil Syndrome with Cervical Myelopathy Successfully Treated by Simple Decompression without Fixation.

Klippel-Feil syndrome (KFS) is a congenital developmental disorder of cervical spine, showing short neck with restricted neck motion, low hairline, and high thoracic cage due to multilevel cervical fusion. Radiculopathy or myelopathy can be accompanied. There were 2 patients who were diagnosed as KFS with exhibited radiological and physical characteristics. Both patients had stenosis and cord compression at C1 level due to anterior displacement of C1 posterior arch secondary to kyphotic deformity of upper cervical spine, which has been usually indicative to craniocervical fixation. One patient was referred due to quadriparesis detected after surgery for aortic arch aneurysmal dilatation. The other patient was referred to us due to paraparesis and radiating pain in all extremities developed during gynecological examinations. Decompressive C1 laminectomy was done for one patient and additional suboccipital craniectomy for the other. No craniocervical fixation was done because there was no spinal instability. Motor power improved immediately after the operation in both patients. Motor functions and spinal stability were well preserved in both patients for 2 years. In KFS patients with myelopathy at the C1 level without C1-2 instability, a favorable outcome could be achieved by a simple decompression without spinal fixation.

A Case of Klippel-Feil Syndrome Causing a Mass Appearance in the Nape

Savas Guner1, Mehmet Hamdi Sahan2, Mehmet.Fethi Ceylan1, Fuldem Yildirim Donmez3, Akif Sirikci4 1Department of Trauma and Orthopedic Surgery, Medical School of Yuzuncu Yil University, Van, 2Department of Radiology, Kizilaslan Medical Center, Gaziantep, 3Department of Radiology, Medical School of Baskent University, Ankara,4Department of Radiology, Medical School of Gaziantep University, Gaziantep, Turkey A Case of Klippel-Feil Syndrome Causing a Mass Appearance in the Nape

Klippel-Feil syndrome associated with a craniocervico-thoracic dermoid cyst

Background:Uncommonly, Klippel–Feil syndrome (KFS) has been associated with intracranial or spinal tumors, most frequently dermoid or epidermoid cysts. Although the associated dermoid cyst (DC) is usually located in the posterior fossa, isolated upper cervical DC has been reported. Extension from the posterior fossa to the upper cervical spine (C2) has been reported once. We report a rare case of KFS in association with a posterior fossa DC that extended down to the upper thoracic spine and review the current literature.Case Description:A 47-year-old female with presented cervical myelopathy related to a cranio-cervico-thoracic DC in association with KPS-related cervicothoracic fusion (C2-T6) and thoracic kyphosis. The patient underwent complete tumor resection following sub-occipital craniectomy and C1-C4 cervical laminectomy. The patient exhibited complete resolution of symptoms with no tumor recurrence and no deformity at 6-year follow-up.Conclusion:DC should be added to the list of congenital central nervous system abnormalities, which should be sought in patients with KFS. Therefore, the presence of a cystic lesion in the posterior fossa, the craniocervical junction or the anterior cervical spine should suggest the possibility of a DC in patients with KFS. In cases of cranio-cervical DC, the tumor may extend quite far down the spinal column (reaching the thoracic spine), as demonstrated in the present case.

Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect?

Klippel-Feil syndrome (KFS) is an unusual skeletal disorder characterized by congenital fusion of two or more cervical vertebrae which can be sporadic or familial. KFS emerges to be a failure of the normal segmentation and fusion of the mesodermal somites during 3rd and 8th weeks of embryonic development. The triad of low posterior hairline, short neck, and restricted neck motion is present only in 50% and often associated with scoliosis, spina bifida, Sprengel's deformity, cervical ribs, deafness, cleft palate, renal anomalies, congenital heart defects, and so on because of heterogeneous nature of the disease. The significance of KFS lies in the secondary effects produced on the nervous system, which usually presents with features of progressive cord and brain stem compression with relatively minor trauma. We here report two cases of KFS presented in association with amyotrophic lateral sclerosis. Only two such cases have been described in the literature in 1954 and 1975.

A case of Klippel-Feil syndrome with renal agenesis

Klippel-Feil Sendromu (KFS) servikal bolgedeki en az iki vertebranin konjenital fuzyonu olarak tanimlanan nadir bir hastaliktir. KFS'nin en yaygin ozelikleri kisa boyun, dusuk ense sac cizgisi ve servikal bolge eklem hareketlerindeki kisitliliktir. Ayrica skolyoz, sipina bifida, servikal kot, sprengel deformitesi, fasial asimetri, renal ve kardiyak anomaliler gibi sistemik ozellikler de gorulebilir. Sunulan olgu,10 yasindaki kiz hasta olup, boy kisaligi ve boyunda egrilik sikayeti ile basvurdu. Hastanin fizik muayenesinde kisa boyun, dusuk ense sac cizgisi ve Sprengel's deformitesi saptandi. Hastanin sert damaginda yukseklik, fasiyal asimetri, tortikolis deformitesi mevcuttu. Servikal paravertebral kas spazmi sol (+)/sag (++) idi. Tonus, kas gucu, refleks ve duyu muayenesi ile sistemik ve norolojik muayenede anormallik yoktu. Radyolojik incelemede ise C4-5 ve C6-7 disk araliklarinda kayip ile karakterize blok vertebralar izlenmekteydi. Ayrica sagda 2, solda 1 adet hemivertebra anomalisi mevcuttu ve odontoid cikinti aplazikti. Yapilan batin ve pelvik incelemede sag bobrek izlenmedi. Ekokardiyografik incelemede patoloji saptanmadi. Bu calismamizda, ozellikle cocuk ve genc hasta grubunda multisistem anomalileri ile karsimiza cikan ve hastada ciddi sakatlik ve komplikasyonlara neden olabilen Klippel-Feil Sendromuna dikkat cekmek amaciyla renal agenezili bir KFS olgusu guncel literatur esliginde sunulmustur.

Disc prolapse and cord contusion in a case ofKlippel-Feil syndromefollowing minor trauma

Klippel-Feil syndrome (KFS) is defined as congenital fusion of two or more cervical vertebrae and patients with KFS are frequently asymptomatic. However, these patients are especially prone to cervical cord injury after a minor fall or a major traumatic episode. We report an unusual case of KFS where the patient had disc prolapse between two Klippel-Feil segments and discuss the difficulties in the management of this case.

Surgical treatment of lower cervical injuries combined with cervical congenital abnormalities

Objective To discuss strategies of treating lower cervical injuries combined with cervical congenital abnormalities. Methods Eleven cases of lower cervical injuries combined with cervical congenital abnormalities were treated from 1998 to 2005. The injuries included 1 case of C3/4 disc herniation, 7 cases of whiplash injury, 1 case of C5 vertebral body fracture, and 2 cases of C4/5 and C5/6 dislocation.Cervical abnormalities included Klippel-Feil syndrome (2), basilar impression (2), platybasia (5), occipitalization of atlas (9), and Chiari deformity (1) . In 2 cases of Klippel-Feil syndrome, one stage anterior discectomy with iliac bone fusion and self locking plate combined with posterior lateral mass fixation was performed. One whiplash injury with Chiari deformity received a posterior laminectomy and occipital foramen decompression and craniocervical fusion. Other cases received anterior or posterior decompression and fusion respectively depending on their injury type. Results The follow-up ranged from 4 months to 6 years (mean, 22 months) . On average, the Frankel grade improved 1 to 2 levels 3 months postoperatively. Bonefusion was achieved in 3 months on average. No hardware-related complications were found. No instability- or deformity-related symptoms were observed during the follow-up. Conclusions In treatment of lower cervical injuries combined with cervical eongenital abnormalities, if there is no evidence of upper cervical injury, the lower cervical injury can be treated independently. Different kinds of congenital abnormalities must be taken into consideration. It is not necessary to fuse upper cervical or other segments to prevent deformity-induced instability. Key words: Cervical spine; Abnormality; Injury; Surgery

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

Klippel-Feil syndrome (KFS) is a congenital disorder of spinal segmentation distinguished by the bony fusion of anterior/cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or digit anomalies are often associated. Here we report mutations at the GDF6 gene locus in familial and sporadic cases of KFS including the recurrent missense mutation of an extremely conserved residue c.866T>C (p.Leu289Pro) in association with mirror movements and an inversion breakpoint downstream of the gene in association with carpal, tarsal, and vertebral fusions. GDF6 is expressed at the boundaries of the developing carpals, tarsals, and vertebrae and within the adult vertebral disc. GDF6 knockout mice are best distinguished by fusion of carpals and tarsals and GDF6 knockdown in Xenopus results in a high incidence of anterior axial defects consistent with a role for GDF6 in the etiology, diversity, and variability of KFS.

Klippel-Feil Syndrome and Sprengel Deformity Combined with an Intraspinal Course of the Left Subclavian Artery and a Bovine Aortic Arch Variant

We present a case of Klippel-Feil syndrome and Sprengel deformity with a bovine aortic arch and an aberrant course of the left subclavian artery in a 14-year-old boy. CT and MR imaging of the neck and upper thorax demonstrated a cervical osseous segmentation anomaly, a left common carotid artery originating from the innominate artery, and a left subclavian artery coursing through the intraspinal space at the C6 through T1 level. Possible embryonic mechanisms and clinical significance of this variant are reviewed.

A case of Klippel-Feil syndrome with chief complaints of trismus

A case of Klippel-Feil syndrome with chief complaints of trismus

Two Cases of Klippel-Feil Syndrome with Cleft Palate

Two Cases of Klippel-Feil Syndrome with Cleft Palate

Klippel-Feil syndrome with congenital conductive deafness: report of a case and review of literature

Klippel-Feil syndrome is a clinical triad consisting of short neck, decreased head mobility, and low occipital hairline. Additional deformities of the musculoskeletal and the neural system may also be present. Otological defects occur in about one third of these patients. They are seen either unilaterally or bilaterally and accompanied by deafness which may be perceptive, or mixed, or rarely conductive in type. They are caused either by dysplasia of the labyrinth and/or internal auditory canal, or by the middle and the outer ear. We present a report of a case of Klippel-Feil syndrome with congenital conductive deafness. Detailed radiological investigations failed to show any malformations of the middle ear. At operations, thick glue was removed from the middle ear cavities, and dehiscent fallopian canals and bulging of the facial nerve in the tympanic segment were seen. One year postoperatively, audiometry showed a hearing gain of only 20 dB on both sides. Review of the literature shows that there is a trend among the contemporary otologic surgeons to undertake curative surgery whenever possible, so as to improve the hearing, despite isolated reports of various difficulties and complications of curative surgery.

Web neck deformity; anatomical considerations and options in surgical management

Web neck deformity has been recognised for over 100 years and during that time there has been a large amount of literature devoted to it. There has been surprisingly little information published on the exact nature of the deformity, particularly the exact site and composition of the web and the presence of absence of any other soft tissue anomalies in the head and neck, which could modify a surgical approach. Our paper will describe the “simple” webbing found in four cases of Turner's syndrome and one case of Klippel-Feil syndrome, and discuss some of the associated features seen in these syndromes. We also review the major methods of surgical treatment and examine the role of tissue expenders in the surgical correction of this anomaly.

A case of Klippel-Feil syndrome with cleft palate

A case of Klippel-Feil syndrome with cleft palate