Turkiye Klinikleri J Med Sci 2010;30(6)2052 ranio-cervical junction (CCJ) abnormalities rarely present with ab- sence of posterior cervical elements and partial agenesis of occipital bone.1-5 The absence of posterior cervical vertebral elements around the craniovertebral junction may predispose to instability of this region. Cervical Spine Dysmorphism: Report of Two Unusual Cases of Craniovertebral Junction AABBSS TTRRAACCTT Cra ni o cer vi cal junc ti on ano ma li es are ra re and the ir clas si fi ca ti on is con si de rably com- p lex. He re we re port two unu su al ca ses of cer vi cal spi ne dysmorp hism pre sen ting with the ab sen ce of pos te ri or ver teb ral ele ments which are al so ac com pa ni ed with Wil der vanck syndro me and hydro - cep ha lus. The first ca se was a 17-ye ar-old fe ma le who pre sen ted with short sta tu re, bro ad neck, co - ar se vo i ce, de af ness as well as bi la te ral la te ral ga ze pa re sis. Cer vi cal com pu te ri zed to mog raphy (CT) and mag ne tic re so nan ce ima ging (MRI) re ve a led the ab sen ce of pos te ri or ver teb ral ele ments of cer- vi cal spi ne inc lu ding par ti al age ne sis of su boc ci pi tal bo ne, ro ta ti o nal de for mity of cer vi cal co lumn, Chi a ri ab nor ma lity and cystic ca vi ta ti on of cer vi cal spi nal cord. Ad di ti o nally dex tro car di a, which has not be en de fi ned as a fe a tu re of Wil der vanck syndro me yet, was a mar ked fe a tu re of chest X-ray. The se cond ca se was a 32-ye ar-old ma le pre sen ting with comp la ints of ga it dis tur ban ce, dyspho ni a, se- ve re neck pa in, short sta tu re and sco li o sis. Cer vi cal X-ray, CT and MRI re ve a led se ve re ba si lar in va - gi na ti on, ab sen ce of dor sal ele ments of first two cer vi cal ver teb ra e and hydro cep ha lus. Des pi te the ab sen ce of who le pos te ri or cer vi cal ver teb ral ele ments and even oc ci pi tal bo ne, ba si lar in va gi na ti on was not a pre do mi nant fe a tu re in the first ca se. We conc lu de that pre sen ce of a stab le li ga men to us struc tu re only in an te ri or cer vi cal co lumn may ha ve con tri bu ted to the strength of cra ni o cer vi cal junc ti on and exp la ins the ab sen ce of ba si lar in va gi na ti on for Ca se 1. KKeeyy WWoorrddss:: Dextrocardia; hydrocephalus; Klippel-Feil syndrome ÖÖZZEETT Kranioservikal bileşke anomalileri ender görülür ve sınıflandırmaları oldukça karmaşıktır. Burada Wildervanck sendromu yanında hidrosefaliyle birlikte görülen ve posterior vertebral elemanların yokluğunu içeren iki nadir servikal spinal dismorfizm olgusunu sunuyoruz. İlk olgu kısa boy ve geniş boyun, kaba ses, sağırlık ve bilateral sabit bakış felciyle gelen 17 yaşında bir kızdı. Servikal bölgenin milgisayarlı tomografi (BT) ve manyetik rezonans (MR) görüntülemesi suboksipital kemiğin kısmi agenezini, servikal kolonun rotasyonel deformitesini, Chiari anomalisini ve servikal spinal kordun kistik kavitasyonu ile birlikte vertebraların arka elemanlarının yokluğunu ortaya koydu. Bunların yanısıra akciğer grafisinde şimdiye kadar Wildervanck sendromunun bir özelliği olarak tanımlanmamış olan dekstrokardi saptandı. İkinci olgu yürüme bozukluğu, disfoni, ciddi boyun ağrısı, kısa boy ve skolyoz yakınmaları ile başvuran 32 yaşında bir erkekti. Servikal grafi, BT ve MR görüntüleri ciddi baziler invajinasyonu, ilk iki servikal omurgada dorsal elemanların yokluğunu ve hidrosefaliyi göstermekteydi. Arka servikal elemanların tümünün ve hatta oksipital kemiğin yokluğuna karşın, baziler invajinasyon ilk olguda mevcut değildi. Bu bulgular ilk olguda, sadece anterior servikal kolondaki stabil bir ligamentöz yapının bile baziler invajinasyonu engelleyebileceğini düşündürmektedir. AAnnaahh ttaarr KKee llii mmee lleerr:: Deksrokardi; hidrosefali; Klippel-Feil sendromu TTuurrkkiiyyee KKlliinniikklleerrii JJ MMeedd SSccii 22001100;;3300((66))::22005522--66 Ergün DAĞLIOĞLU, MD,a Yasemin ALANAY, MD,b Çağatay ÖZDÖL, MD,a Önder OKAY, MD,a Ali DALGIÇ, MD,a Deniz BELEN, MDa aNeurosurgery Clinics, Ankara Numune Education and Research Hospital, bClinical Genetics Unit, Hacettepe University, Department of Pediatrics, Ankara Ge liş Ta ri hi/Re ce i ved: 14.09.2009 Ka bul Ta ri hi/Ac cep ted: 14.04.2010 Ya zış ma Ad re si/Cor res pon den ce: Ergün DAĞLIOGLU, MD Ankara Numune Education and Research Hospital, Neurosurgery Clinics, Ankara, TÜRKİYE/TURKEY edaglioglu@gmail.com Cop yright © 2010 by Tür ki ye Kli nik le ri OLGU SUNUMU Turkiye Klinikleri J Med Sci 2010;30(6) 2053 Neurosurgery Dağlıoğlu et al Be si des ab sen ce of cri ti cal bony struc tu res, con gen- i tal ste no tic le si ons of this re gi on might al so con tri - bu te to ne u ral com pro mi se and re sult in di sa bi lity of the pa ti ent. Mec ha ni cally, the up per most cer vi - cal ver teb ra e and odon to id process in trac ra ni ally ca u sing sta tic or dyna mic ste no sis of the CCJ are a. Bra ins tem com pres si on at this cri ti cal le vel obs - tructs ce reb ros pi nal flu id (CSF) flow and ma ni fests cli ni cally as hydro cep ha lus, res pi ra tory dif fi culty and may even tu ally le ad to sud den de ath in ex tre - me ca ses. The ab sen ce of pos te ri or ele ments and dec re a sed strength of axi al sup por ting struc tu res are fre qu ently as so ci a ted with ba si lar in va gi na ti - on.6,7 Cervical vertebrae abnormalities are the es- sential component of cervico-oculo-acoustic (COA) syndrome, also known as Wildervanck syndrome. Characteristic triad of Wildervanck syndrome in- clude Klippel-Feil anomaly, bilateral abducens nerve paralysis with retracted bulbi, namely Duane anomaly, and hearing loss.8-10 Here we present two cases of cervical spine dysmorphism associated with unusual CCJ anomalies. CASE REPORTS CASE-1 Seventeen-year-old female patient presented with torticollis, deafness, short stature and short neck deviated to the right side (Figure 1a). Voice was coarse with phonation disturbances. Neurological examination revealed left hemihypoesthesia and severe scoliosis without any motor disturbance. Ophthalmological examination revealed bilateral lateral gaze paresis. Probable cardiac abnormalities such as dextrocardia, arhythmia and ventricular extra-systoles were also evaluated (Figure 1b). CO2 retention was marked in arterial blood gas analy- sis. On direct X-rays, multiple segmentation de- fects were especially marked in the posterior elements of the cervical spine, with fused anterior FIGURE 1: A. Photograph of the patient demonstrates the deviation of neck to the right side. B. Chest X-ray reveals dextrocardia. Cervical X-ray (C), sagittal (D) and axial (E) CT scanograms demonstrating absence of posterior vertebral elements and rotational deformity of the cervical spine. F. Sagittal cervical MRI also revealed cystic cavitation within the cervical spinal cord. Turkiye Klinikleri J Med Sci 2010;30(6)2054 Dağlıoğlu ve ark. Beyin ve Sinir Cerrahisi elements of cervical vertebrae (Klippel-Feil) (Fig- ure 1c). Cervical computerized tomography (CT) and magnetic resonance imaging (MRI) showed cystic dilatation of the 4th ventricle, a cystic cav- itation on cervical spinal cord, absence of poste- rior cervical elements and hypoplasia of the suboccipital bone (Figure 1d, 1e and 1f). The pa- tient’s family refused surgical intervention due to associated surgical risks and the clinical condition of the patient was almost stable on three years fol- low-up. CASE 2 32-year-old male presented with complaints of gait disturbance and severe neck pain. Physical exami- nation revealed short stature with scoliosis. Voice was dysphonic and marked ataxia was noted upon walking. Severe basilar impression and absence of dorsal elements of first two cervical vertebrae were demonstrated on X-ray, CT and MR images (Fig- ure 2). CT and MRI also demonstrated hydro- cephalus. Thorough clinical investigations for inherited diseases and syndromes were all negative. FIGURE 2: A. Lateral cervical X-ray demonstrates basilar invagination and superposition of the upper cervical spine with the axial skeleton of the CCJ. B. Axial CT scan of the same patient also shows bony elements of two uppermost cervical vertebrae and clivus bone with associated hydrocephalus. C. Axial CT scan (bone window) reveals clivus (double arrow), C1 lateral masses (arrowheads) and dens of C2 (arrow) with absence of posterior cervical elements. Sagittal (D) and coronal (E) MRI is typical for severe basilar invagination and hydrocephalus. Turkiye Klinikleri J Med Sci 2010;30(6) 2055 Neurosurgery Dağlıoğlu et al Anterior decompression of invaginated vertebral segment with or without posterior cervical fusion and ventriculoperitoneal shunt insertion were ad- viced to the patient but he refused surgery despite the benefits were fully explained. DISCUSSION Although the classification of the abnormalities of CCJ may be challenging, they have a unique spec- trum and surgical indications are not always be- wildering. Mild degree of basilar invagination or Chiari malformation is frequently associated with these anomalies.2,11,12 Severe forms of basilar invagination are rare and may also present with hy- drocephalus.6,13 CCJ anomalies have been previ- ously reported in association with several clinical syndromes such as Klippel-Feil syndrome, COA syndrome, Wildervanck syndrome or Hajdu-Ch- eney syndrome.6,14,15 The Wildervanck syndrome is a rare congenital abnormality characterized with Klippel-Feil syndrome (fused cervical vertebrae), bilateral abducens palsy with retractio bulbi (Duane syndrome) and congenital perceptive deaf- ness.8-10 The disorder is almost completely limited to females raising the question of sex-linked dom- inance with lethality in the hemizygous male. This syndrome may be responsible for at least 1% of deafness among females. Few cases were reported with MRI findings in the literature. Besides, there were cases with complete and incomplete clinical features of this syndrome. Several developmental osseous anomalies of the CCJ such as vertebral seg- mentation or occipitocervical bone abnormalities, isolated atlantal stenosis and cerebellar or brain- stem hypoplasia were reported to be significant craniocervical structural alterations.8,16-18 Abnor- malities of the inner and middle ear, microcephaly, mental retardation, and cleft palate have also been reported as the components of this syndrome.9 Children with Wildervanck syndrome should be investigated for craniospinal abnormalities with MR imaging. Cervical and bulbar syringomyelia, vermian hypoplasia, tonsillar herniation, basilar impression and platybasia can be accompanied with Wildervanck syndrome.8,19 Experience of sur- gery in patients with Wildervanck syndrome is scarce in the literature and most of them were re- lated to the complications associated with this syn- drome. Association of dextrocardia with Wildervanck syndrome which is a marked feature of Case 1, has not been reported previously al- though few reports emphasized some congenital cardiac problems such as atrial septal defect, car- diomegaly, heart failure or bilateral pleural effu- sion.9,20 CCJ abnormalities, particularly Chiari I mal- formations that are seen with osteogenesis imper- fecta and achondroplasia are also associated with hydrocephalus.7,14,21 However, stenosis of the CCJ predisposes to hydrocephalus, as Case-2 in this re- port, and obstruction of CSF at a higher brainstem level can be an important reason in severe cases.22 We postulate that, the defects in posterior arches may aggravate block of CSF flow as high as third ventricle and mesencephalon level. Absence of dorsal elements of the first two cervical vertebrae of Case-2 is associated with marked basilar impres- sion and severe congenital abnormalities whereas the case with Wildervanck syndrome has no basi- lar invagination or impression despite aplasia of dorsal elements of all cervical vertebrae. On the other hand, presence of cervical syringomyelia in this case forms a discrepancy with the explanation to the pathophysiology of the first case. Several inherited disorders such as osteogene- sis imperfecta, achondroplasia and osteocartilagi- nous disorders are known to predispose to basilar invagination due to decrease in the load bearing ca- pacity of CCJ. Despite the fact that posterior cervi- cal vertebral elements were incomplete in both cases, basilar invagination was not noted in Case 1 where posterior elements of cervical vertebrae and suboccipital bone were completely absent. From the pathophysiological point of view, rather than absence of posterior elements of first two cervical vertebrae, the ligamentous laxity between the up- permost cervical vertebrae and clivus may have contributed to the basilar invagination in Case 2. This is a contradictory finding in terms of the mechanism, however presence of syringomyelic cavitation in this case may be termed as a different entity. Goel et al reported that syringomyelia was Turkiye Klinikleri J Med Sci 2010;30(6)2056 Dağlıoğlu ve ark. Beyin ve Sinir Cerrahisi a tertiary response to the reduction in the volume of posterior fossa regardless of basilar invagination or syringomyelia was the leading cause.23-25 Ac- cordingly, syringomyelic cavitation of the cervical spinal cord encountered in Case 1 is most probably due to present Chiari malformation. 1. Cha u AM, Wong JH, Mobbs RJ. 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