CASE REPORT

Cystic angiomatosis of the craniocervical junction associatedwith Chiari I malformationCase report and review of the literature

Marco Pavanello & Gianluca Piatelli &Marcello Ravegnani & Alessandro Consales &

Andrea Rossi & Paolo Nozza & Claudia Milanaccio &

Marco Carbone & Armando Cama

Received: 13 June 2006 /Revised: 8 September 2006 /Published online: 12 January 2007# Springer-Verlag 2007

AbstractIntroduction Cystic angiomatosis of the skull and spine isan exceptionally rare, benign vascular lesion. Both thevertebral bones and the skull may be affected. Diagnosisand treatment of this disease is multidisciplinary.Discussion Histological examination is ultimately requiredto make a diagnosis. When the craniocervical junction isinvolved, the site of biopsy should be carefully selected soas to reduce procedure-related morbidity, including cere-brospinal fluid leakage and spinal deformity. We present acase report of a 4-year-old boy with cystic angiomatosis ofthe skull base and upper cervical spine associated with a

Chiari I malformation and provide a review of the pertinentliterature.

Keywords Cystic angiomatosis . Lymphangiomatosis .

Arnold–Chiari malformation . Cervical spine . Skull

Introduction

Cystic angiomatosis is encountered during the first to thirddecades of life without sex prevalence. The trunk (spine)and, occasionally, cranial bones are the predominantlocations [4]. Clinical presentation depends on whetherthere is associated visceral involvement [1, 5, 12]. Otherrare illnesses to be considered in the differential diagnosisinclude primary lymphangiomas, haemangiomas, and Gor-ham’s massive osteolysis (also known as acute spontaneousabsorption of bone, vanishing bone disease, and disappear-ing bone disease) [6] at the other [9]. We report on a 4-year-old with histologically proven cystic angiomatosis of theskull base and upper cervical spine associated with a ChiariI malformation, studied with computerized tomography(CT) and magnetic resonance imaging (MRI).

Case report

A 4-year-old boy with a long-standing history of recurrentotomastoiditis and headache presented with cervical painand head tilt. Neurological examination was normal, andboth somatosensory and brainstem evoked potentials werewithin normal ranges. The patient underwent CT scan thatshowed diffuse osteolysis of the occiput, clivus, foramen

Childs Nerv Syst (2007) 23:697–700DOI 10.1007/s00381-006-0274-5

M. Pavanello :G. Piatelli :M. Ravegnani :A. Consales :A. CamaDepartment of Neurosurgery, Giannina Gaslini Institute,Genoa, Italy

A. RossiDepartment of Neuroradiology, Giannina Gaslini Institute,Genoa, Italy

P. NozzaDepartment of Pathological Anatomy, Giannina Gaslini Institute,Genoa, Italy

C. MilanaccioDepartment of Neuro-oncology, Giannina Gaslini Institute,Genoa, Italy

M. CarboneDepartment of Orthopedics, Giannina Gaslini Institute,Genoa, Italy

A. Cama (*)Unità Operativa di Neurochirurgia, Istituto Giannina Gaslini,Largo Gerolamo Gaslini, 5,16148 Genoa, Italye-mail: armandocama@ospedale-gaslini.ge.it

magnum, and the first three cervical vertebrae. The affectedbone showed multiple lacunar areas and a mottled, swollenappearance (Fig. 1). The child was therefore referred forMRI. The affected bone appeared hypointense on T1-weighted images and hyperintense on T2-weighted images,with abnormal enhancement after contrast material admin-istration (Fig. 2). MRI also showed the presence of a ChiariI malformation without signs of ischemic damage of theherniated cerebellar tonsils. MR venography displayedmarked asymmetry of the transverse-sigmoid sinuses andinternal jugular veins. Laterocervical lymphadenomegalywas detected on ultrasound. Instability of the cervical spinewas excluded by means of standard X-rays (Fig. 3). A bone

scan was performed, and no other bone lesions weredetected. Upon completion of the imaging workup, thedifferential diagnosis included the Ollier syndrome (poly-ostotic chondromatosis), evolutive angiomatosis, and boneinfection. To obtain a diagnosis while minimizing the riskof causing spinal instability, partial hemilaminectomy of C2was performed. Histopathological examination (Fig. 4)disclosed dilated, thin-walled, vascular channels in marrowspaces of cancellous bone. The vessels were partly filledwith blood and lined by a single layer of flat endothelialcells. Some lymphatic vessels were also seen. Thehistopathological features were in keeping with an angio-matosis. Upon revision of the literature, we elected toperform local irradiation, administering a total dose of3,450 cGy. After such a treatment, steroid therapy wasused. The patient was also prescribed to wear a rigid collar.Neuroradiological follow-up at 18 months (Fig. 5) showedpartial fusion of the anterior arch of the atlas to theodontoid process of C2 and mild increase in tonsillarprolapse. The cervical collar was gradually withdrawn,whereas further follow-up studies have been planned tomonitor the evolution of the disease.

Discussion

Angiomatosis is a general term employed to describe aspectrum of rare benign conditions characterized by thin-walled ectatic vascular channels, lined with banal endothelialcells and filled with lymph or blood. Jacobs and Kimmelstiel[10] were the first to describe cystic angiomatosis in 1953.Most cases of primary cystic angiomatosis of the bone havebeen reported in the otolaryngologic and orthopaedicliterature, whereas rare cases, especially involving the

Fig. 1 Axial CT scans, bone windowing shows diffuse lytic processinvolving the body and odontoid process of C2, the atlas, the posteriormargin of the foramen magnum, occipital squama, and the clivus.Notice the affected bone is slightly expanded

Fig. 2 MRI study at presenta-tion. a Sagittal T2-weighted im-age; b post-gadolinium axialT1-weighted image. A diffusesignal abnormality involving theclivus, occipital squama, and C1to C3 is shown. Notice discreteswelling of C2. The abnormalbone shows intense contrast en-hancement. Also, notice concur-rent downward ectopia of thecerebellar tonsils consistent witha Chiari I malformation

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Fig. 3 X-ray study of the cervi-cal spine, laterolateral projectionat presentation (a) and at 18-month follow-up (b) shows sta-ble findings

Fig. 4 Histopathogical examination. a Thin-walled vascular spacesoccupy the intertrabecular bone marrow spaces. b The blood vesselsare lined by a single layer of endothelial cells and surrounded by loosefibrous connective tissue

Fig. 5 MRI study at 18-month follow-up. Sagittal T2-weightedimages shows fusion of the anterior arch of C1 to the anterior surfaceof the odontoid process (arrow). The odontoid process and body of C2are swollen with respect to the initial MRI study and showsinhomogeneous signal intensity, which may be consistent with post-irradiation change. Also, the body of C4 is now hyperintense as aresult of irradiation. Notice the degree of tonsillar prolapse is slightlyincreased (compare with Fig. 2a)

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craniocervical junction, have been described in neurosurgicalpapers [2]. One case report described a 4-year-old girl withcraniocervical lymphangiomatosis and a symptomatic ChiariI malformation that required surgical decompression [7].

Cystic angiomatosis usually presents during the first tothird decade of life, without sex prevalence. This family oflesions can be multisystemic (i.e. with visceral involve-ment) or limited to the vertebral column or skeleton. In thelatter case, the natural history is usually benign and self-limited with eventual stabilization, but progression of thedisease has been described in some cases [3]. Categoriza-tion based on histological demonstration of haemangio-matous or lymphangiomatous predominance is difficult andhas produced a host of confusing definitions with similarhistological appearance and variable involvement of skel-etal and extraskeletal sites. Thus, osteolytic lesions con-taining thin-walled, endothelial-lined vascular channelshave been variably characterized as a tumour (haeman-gioma, lymphangioma), a dysplasia (cystic angiomatosis),or an acquired abnormality of the lymphatic system [5].

The main differential diagnosis is with Gorham’s disease,also called vanishing bone disease, idiopathic massiveosteolysis, or essential osteolysis. Gorham’s disease is anextremely rare bone disorder with fewer than 200 casesreported in the medical literature. It is characterized by boneloss, often associated with swelling or angiomatous prolifer-ation. Bone loss can occur in just one bone or spread to softtissue and adjacent bones. Like cystic angiomatosis, Gor-ham’s disease may involve several bones, but a regionalinvolvement predominantly affecting trunk bones is usuallyseen. The clavicle, vertebrae, and orbit are often involved, andsevere complications include chylothorax and meningitis dueto cerebrospinal fluid leakage [8]. The latter is due tosecondary dural defects mediated through pressure erosionand atrophy adjacent to the lesion or extension of thelymphangiomatous process into the dura [5, 13].

The Chiari I malformation is believed to be primarilyrelated to a disorder of the paraxial mesoderm and,particularly, to hypoplasia of the occipital bone due tounderdevelopment of the occipital somites, with reducedvolume and overcrowding of the posterior cranial fossa,which contains the normally developed hindbrain [14]. Inthe present case, the cause of the association between theChiari I malformation and the bone angiomatosis cannot be,in our opinion, precisely established, and no explanationwas offered in a prior case report [12]. Although therelative frequency of the Chiari I malformation in thegeneral population does not allow to exclude that suchassociation may be coincidental, the skeletal abnormalitywith thickening of the affected bone could further reducethe size of the foramen magnum and posterior fossa,thereby increasing overcrowding and downward herniationof nervous structures.

The elective treatment is radiation therapy, aiming tohalt the progression of the lytic process. In one case withsymptomatic Chiari I malformation, surgical decompres-sion was successfully performed [11]. However, the factthat our patient did not have any clinical or electrophysi-ological abnormality that could be related to the Chiari Imalformation prevented us from any surgical attemptbecause of high risk of surgical instability-related bonepathology. Accordingly, we elected to administer irradia-tion, although imaging studies had not shown signs ofprogression over a 1-year follow-up interval. This decisionwas based on the fact that curettage would be useless andthe risk of post-surgical instability would be greater in thepresence of an associated Chiari I malformation. Canadyand Chou [2] described a case of lymphangiomatosis of thecervical spine with progressive instability of the cervicalspine despite anterior and posterior fusion. Grafted bonetends to become involved with an angiomatous process, andnew bone formation is compromised [5]. On the whole, itseems reasonable to adopt a conservative approach when-ever possible.

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