
J
Aw1, K Wheeler2, TAD Cadoux-Hudson3 and A Jones4
1Diagnostic
Department, Bristol Royal Infirmary, United Healthcare Trust Hospital,
Marlborough St, Bristol, BS2 8HW
2Paediatric Haematology/Oncology Unit, John Radcliffe Hospital, Headley
Way, Oxford OX3 9DU
3Oxford John Radcliffe Hospital, Radcliffe
Infirmary NeuroSurgical Division, Woodstock Rd, Oxford, Oxfordshire OX2 6HE
4The Great Western Hospital, Diagnostic Department, Malborough Rd,
Swindon, Wiltshire SN3 6AA
SMJ 2008 53(1): 60
Langerhans
cell histiocytosis occurring at critical sites can cause both diagnostic
difficulty and risk for morbidity. We present a case report of a 17 year old
male who presented with neck pain following a sports injury. He was initially
treated with analgesia but due to persistent pain he presented to the emergency
department. A plain radiograph revealed a pathological fracture with osteolytic
destruction of C4. Further investigations and surgical spinal stabilisation
under orthopaedic care revealed a biopsy proven diagnosis of solitary
histiocytosis of C4. He recovered completely with normal function. This case
report contributes to the clinical experience of this rare entity and gives a
review of the literature on this rare but highly significant disease.
Langerhans
cell histiocytosis (LCH) is a poorly understood disorder characterised by clonal
proliferation of Langerhans cells. Formerly known as Histiocytosis X it was
subdivided into three clinical categories: Letterer-Siwe disease (disseminated
histiocytosis), Hand-Schuller-Christian disease (multifocal histiocytosis) and
Eosinophilic Granuloma (solitary histiocytosis). These presentations are now
believed to represent different ends of the same spectrum of disease. The
proliferating cell in all forms is the Langerhans cells of marrow origin.1
They are dendritic cells whose main role is in presenting antigens, normally
responsible for the first line immunologic defence in the skin. These cells are
normally found in the epidermis however they are also present in smaller numbers
throughout the body. The aetiology of LCH is still unknown but it is considered
to be a non-neoplastic condition. The most common bony locations in order of
decreasing frequency are the skull, femur, mandible, pelvis, ribs and spine
where it is classically known as vertebral plana.2 When it occurs
within the cervical spine it presents a substantial risk for morbidity and
mortality. Bertram et al3 performed a meta-analysis of all cases and
reported on eosinophilic granuloma of the cervical spine, 53 cases in total (43
paediatric cases and 9 adult cases). Ngu et al4 found only 5
published cases of eosinophilic granuloma of the atlas in children. This report
describes a patient presenting with symptoms after a sports injury who was found
to have an isolated deposit of LCH in the fourth cervical vertebrae.
A
17-year-old Caucasian male presented with a history of neck injury whilst
playing football 2 weeks prior to re-attending the emergency department.
Following the initial sports injury, he had experienced an increase in neck
stiffness and pain. He was normally fit and well with an unremarkable past
medical history.
Physical
examination reveals tenderness at C6/7 level and a mild rotational deficit to
the right (limited to 20 degrees forward rotation). No apparent external injury
of the cervical spine was evident. Neurological deficits were not detected.
Laboratory investigations were within normal limits.
An
initial plain lateral cervical spine radiograph revealed an isolated osteolytic
lesion with collapse of the C4 vertebral body and normal appearance of the soft
tissue planes (Figure 1).
Magnetic
resonance imaging (MRI) (protocol: T1W, T2W Sagital and axial) of the cervical
spine confirmed collapse of C4 vertebral body with an abnormal marrow signal,
high signal on T2-weighted (Figure 2.0 and 2.1) and low to isointense compared
to muscle on T1-weighted sequences (Figure 3.0, and 3.1). High signal in the
para-vertebral soft tissues and normal signal and configuration of the
intervertebral discs with no evidence of any associated soft tissue lesion. The
T2W sequence also revealed high intramedullary signal over the length of several
vertebral bodies at lower level to the marrow changes of C4, consistent with a
syrinx (Figure 2.0). The cervico-medullary junction and posterior fossae were
normal; the absence of a Chairi 1 malformation is in keeping with a traumatic
aetiology of the syrinx.
The
patient was transferred to a neurosurgical tertiary centre with a concern of a
diagnosis of a malignant process such as Ewing’s sarcoma, osteosarcoma,
leukaemia, or lymphoma. Surgical management consisted of an autologous bone
transplantation: a C4 corporectomy iliac bone graft and Condam Onlay plate for
spinal stabilization. The histology of tissue taken at the corportectomy
confirmed a diagnosis of Langerhans cell histiocytosis. Because of the high
frequency of multiple skeletal lesions, it is recommended that a skeletal survey
which is more sensitive for LCH than a technetium bone scan is performed.12
In our case further investigations did not reveal any other lesions on a
skeletal survey and brain MRI showed a normal pituitary fossa. Postoperative
recovery was uneventful, with relief of the neck pain and recovery of a full
range of movements. Long term follow up care will be under the orthopaedic team
and subsequent removal of the titanium plate is anticipated.
Formerly
known as eosinophilic granuloma (either uni-focal or multi-focal) this variant
of LCH was characterised by expanding, erosive accumulations of Langerhans cells
within the medullary cavities of bones.1 Uni-focal lesions usually
affected the skeletal system without infiltration of normal tissue or
development of metastasis. It is
thought to be a benign osteolytic lesion with an indolent course.1
Uni-focal
LCH of the cervical spine in the paediatric population is uncommon with a
bimodal distribution. Uni-focal LCH of the cervical spine affects children or
young adolescent (mean age at the time of diagnosis for cervical LCH was
7.4+/-4.5 years) and adults (mean age at the time of diagnosis for cervical LCH
was 35+/-13.8 years).3, 5 The diagnosis of an eosinophilic granuloma
is even rarer in adults as compared to the paediatric population.20
Eighty
percent of uni-focal LCH present before the age of 10 years [5, 13] and with an
estimated male: female ratio of 2-5:1 (5, 12). A mean age (8.2 years) at the
time of diagnosis was found if you encompass LCH of the spine [12]. The skull is
the most frequent location, then in descending order the femur, mandible,
pelvis, ribs and spine.2 A meta-analysis of cervical LCH reported
cases in the literature found that children had lesions in C3-5 in 60% of cases
compared with C2-3 involvement in 54% of adult cases.3 Consistent
with our case, LCH localised in the skeleton usually presents with local pain,
tenderness, and a restricted range of movement developing over several weeks to
months2, 3, 6 and carries a favourable prognosis.
Plain
radiography, CT and MRI encompass the radiological assessment. Radiography is
useful to assess the entire skeletal axis; CT is used to fully delineate the
extent of local bony destruction and any soft tissue involvement. Fluid-levels
and dural extension of spinal involvement are rarer features on CT and MRI.5
The
classic radiographic findings of LCH in the spine are vertebral collapse with
preserved disc spaces and lack of extra-spinal or soft tissue involvement.7,
12 This helps to differentiate from osteomyelitis. MRI is non-specific for
histiocytosis, but is able to differentiate an active from an inactive lesion.
Active lesions show a low signal on T1W and a high signal on T2W in the marrow
compared to low on T1 & T2W in the case of an old lesion.2, 5 MRI
is also an excellent guide for biopsy where biopsy is required as MRI is able to
differentiate active from healing lesions and thus guide needle biopsies.
Presentation
of histiocytosis as a solitary vertebral lesion is uncommon, and even more so in
an isolated lesion of C2. 4, 7, 8
Treatment
of LCH of the cervical spine has been variable. The different standard treatment
strategies are: no treatment, resection, intra-lesion infiltration with
steroids, systemic steroids, NSAIDs, pamidronate, and radiation therapy. Various
case reports advocate their own specific therapies however each case is quite
individual in the site involved, morphology, soft tissue component, and skeletal
maturity of the patient. Historically radiation therapy was used7, 14 but
is now not advocated due to the risk of late effects within the radiotherapy
field, both impaired tissue growth and the risk of secondary malignant lesions.
Local and/or systemic treatment should be considered for either symptomatic
localised disease or multi-focal disease. The current recommended treatment for multi-focal bone disease is systemic treatment with oral
steroids with IV venous vinblastine in a 6 months schedule as well as specific
orthopaedic measures indicated by virtue of the site of disease. Surgical
intervention may be indicated for a lesion which is extensive, compromises
spinal stability or has neurological deficit.4 In multisystem LCH,
the most recent randomized clinical trial suggests that intravenous vinblastine
and etoposide, both with one dose of corticosteroids, are equally effective
treatments. If these patients do not respond within 6 weeks they are at
increased risk for treatment failure and may require different therapy.19
Currently although there are new potential therapies
for LCH such as antiCD52 antibody- alemtuzumab,
Vascular
Endothelial Growth Factor, Thalidomide and TNF-alpha
antagonists15, 16, 17, 18 they would not be indicated in a case of
isolated or multi-focal bone disease.
A
series of 4 cases of LCH in the cervical spine at a single institution concluded
good clinical results with prednisolone monotherapy.9 Bertram et al3
advocated immobilisation alone in a Minerva jacket with excellent clinical
results. Surgery was reserved for cases with neurological defects or
instability. Long-term follow up of LCH involving the posterior elements of the
cervical spine in a skeletally immature patient with a short course of
chemotherapy and steroids, and conservative care showed excellent resolution.4
Several authors have concluded that low dose chemotherapy is safe and effective
for patients with solitary LCH.4, 8, 10
In
conclusion solitary LCH of the cervical spine is uncommon in the paediatric
population but has excellent long term prognosis. Imaging studies and biopsy
were useful for diagnosing LCH at an early stage and to differentiate this rare
entity from other sinister causes.
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