The case of a six-month-old boy with mandibular Caffey's disease is described. Emphasis is placed on the role of bone scintigraphy, as a diagnostic method which would be, because of the clinical picture and the beginning of the disease (suspected osteomyelitis), one of the first methods performed. Highly characteristic scintigraphic image, when the mandible is involved, can play the most important role in further treatment, and its recognition can also spare many unnecessary procedures

Hajnžić, Tomislav F.

Hat, Josip

Kovačić, Ksenija

Kusić, Zvonko

Markičević-Ružičić, Karmen

Rončević, Sanja

English

University of Zagreb Medical School Repository

Coll. Antropol. 31 (2007) 1: 359–361Case reportMandibular Caffey’s Disease – Case ReportKsenija Kova~i}1, Tomislav F. Hajn`i}2, Sanja Ron~evi}1, Josip Hat3,Karmen Marki~evi}-Ru`i~i}2 and Zvonko Kusi}11 Department of Oncology and Nuclear Medicine, University Hospital »Sestre Milosrdnice«, Zagreb, Croatia2 Department of Pediatrics, University Hospital »Sestre Milosrdnice«, Zagreb, Croatia3 Department of Diagnostic and Interventional Radiology, University Hospital »Sestre Milosrdnice«, Zagreb, CroatiaA B S T R A C TThe case of a six-month old boy with mandibular Caffey’s disease is described. Emphasis is placed on the role of bonescintigraphy, as a diagnostic method which would be, because of the clinical picture and the beginning of the disease(suspected osteomyelitis), one of the first methods performed. Highly characteristic scintigraphic image, when the man-dible is involved, can play the most important role in further treatment, and its recognition can also spare many unneces-sary procedures.Key words: bone scan, Caffey’s disease, infantile cortical hyperostosis, Zagreb, CroatiaIntroductionIn spite of smaller degree of specificity, due to its sen-sitivity, simplicity of performance and availability, thebone scintigraphy has been one of the most performednuclear medicine procedures for more than 30 years.Though it can not provide the diagnosis, it can veryclearly show the lesion, before most other methods, theirnumber, shape, intensity of accumulation, which couldlimit the differential diagnosis, and direct to other diag-nostic procedures. Even more, according to the scan, onecan put the mark on the skin, which enables directedneedle biopsy. Bone scintigraphy in most cases leads onthe shortest way to a correct diagnosis, meaning treat-ment as early as possible and follow up of its effect.Case ReportV. I., a male infant was born after an ordinary preg-nancy in September 2003. The disease began three monthslater, with the swelling of the right cheek, and conglom-erate of the lymphonodes submandibulary on the sameside, without fever or any other symptoms. The child wasin a good general condition. One week later, the leftcheek was also swollen. Tumefactions were found in thelower parts, hard and indurate, fixed to the underlyingbones, forming a pear shaped face. On suspicion of sialo-adenitis an ultrasound was conducted, but it revealed nopathologic findings on the right parotis, and on the left afew lymph nodes were found. A needle biopsy under theultrasound control was performed on both sides of theswollen cheeks. Some fat cells, fibrocytes and phagocyteswere found on the left side, some particles of musculartissue histiocytes, particles of connective stroma, osteo-blasts and single mesenchymal cells on the right, but nomalignant cells were found.The erythrocyte sedimentation rate was elevated: 94;(for the first hour), as well as CRP values; 27 mg/L.Leucocytosis was found only at the beginning of the ill-ness: 18.310 /1L, with lymphocytosis –: 73%; 72%. in thedifferential blood picture. Due to the inflammatory pa-rameters osteomyelitis was suspected, and antibiotic the-rapy was introduced. Swelling and tenderness temporarydisappeared, but than reappeared.Because of the suspected osteomyelitis, bone scinti-graphy – »blood pool« and late static images – was per-formed after injection of 148 MBq (4 mCi) 99m-Tc-HMDP. »Blood pool« images of the head, neck and thoraxwere performed in the first 10 minutes. The increased ac-cumulation of the radiopharmaceutical was seen in theregion of the lower jaw. On the late images of the entireskeleton the pathologic finding is seen only in mandible,and reminds of the Paget disease. (Figures 1a and 1b).359Received for publication June 8, 2006In differential diagnosis, this could have been the caseof fibrous dysplasia, osteomyelitis or some other diseasecharacterized by intense osteoblastic activity.On the x-ray of the mandible, diffuse massive corticalthickening of mandible with hyperostosis and bone en-largement was seen. Other parts of skull showed normalradiological bone structure. (Figure 2).A high resolution CT was made. The finding revealedthickening of the whole mandible with abundant hyper-ostotic changes of cortical and subcortical parts of thebone with loss of normal trabeculation, edema of the sur-rounding soft tissue and also indurations of the muscles.Finally, a bone biopsy under general anesthesia wasconducted. Pathohistological diagnosis confirmed Caffey’sdisease: particles of bone were found, built of normalbone trabecules, coated with osteoblasts and between thetrabecules was good vascularized loosed cellular tissue.Antibiotic therapy was withdrawn, the sedimentationrate, CRP and lymphocyte decline were on the half oftheir initial values. The local finding almost disappeared,and the child was discharged. Three months later, localfinding disappeared and the child was in good generalcondition. Laboratory parameters were in normal limitstoo.DiscussionThe disease was first described by Georg Roske in1930. John Caffey, American pediatrician, recognizedthis condition in 1939 and with William Aaron Silvermandescribed it as a clinical entity in 1945. Independently,the disease was reported by Smyth et al. in 19461,2. Thedisease is of unknown cause affecting the skeleton andadjacent tissue. It is believed that the disorder is deter-mined at least in part by genetic influences¹.The autosomal recessive inheritance has been sug-gested for the prenatal form, but dominant inheritance isalso possible³. Another possible cause is an infection byan agent with a long latency period, as has been sug-gested in Paget’s disease4.The disease manifests itself early in infancy (althoughit may be identifiable in utero), typically before the fifthmonth, more often in males than females. The disease ischaracterized by fever, irritability, swelling of soft tissueand cortical bone thickening. The most common sites aremandible (80%), followed by clavicles (50 %), and thenulna, tibia, scapula and various ribs on one or both sides.Almost all of the bones could be involved except of pha-langes and vertebrae. The bone ends of the long bonesare also spared 5,6. Affected bones are thickened becauseof deposition of excessive amounts of subperiosteal newbone on their cortices. It could be mono or polyostoticdisease, and the involvement tends to be migratory. Inthe mildest cases the condition may be limited to the jaw,and subsides after a few weeks. The polyostotic formK. Kova~i} et al: Caffey’s Disease, Coll. Antropol. 31 (2007) 1: 359–361360Fig. 1. a) Blood pool image – mild positive finding in the regionof lower jaw b) Late static image revealed very intense accumula-tion of the radiopharmaceutical in the mandible which is volu-minous and almost threefold thicker than the normal bone.Fig. 2. Atypical A-P x-ray of the skull: Diffuse massive corticalthickening of mandible with hyperostosis end bone enlargement.Other parts of the skull show normal radiological bone structure.lasts several weeks or months, and is considered as amoderately severe case. Severe cases could last for yearsand swelling can recede and reappear again.In histopathologic findings in the early stage, acuteinflammatory changes can be found, followed by peri-osteal activity and edematous swelling of the adjacentsoft tissue and infiltration by polymorphonuclear leuko-cytes. In the later stages of the disease, inflammatorychanges no longer exist1.The prenatal form of the disease according to onsetcan be divided into two forms – severe with onset before35 weeks of gestation with high lethality, and the mildform after 35th week without complications3. In the an-tenatal form, ultrasound plays a very important role, butone must have in mind that findings can lead to the in-correct diagnosis of osteogenesis imperfecta3.Cortical hyperostosis was also described as a side ef-fect of prostaglandin therapy – which is probably dosedependent7.Our patient had all symptoms except irritability, andthe clinical course was characteristic of the mildest caseof Caffey’s disease. There are many more descriptions inthe literature of x-ray, CT or MR findings, although bonescintigraphy in most cases would be the first procedureperformed, mainly because of suspicion on osteomyelitis,especially if the x-ray is negative, which could be the caseat the very early beginning of the disease. Bone scinti-graphy (the whole body) should be performed even withpositive x-ray finding, to distinguish mono from polyos-totic disease. Some of the involved bones could be with-out symptoms (eg. without soft tissue swelling), and bonescan is the only method which can reveal all involvedplaces.The mandible is involved in almost all cases, and of-ten is the only bone affected. The scintygraphic image isa rather characteristic, very intensive accumulation ofthe radiopharmaceutical in the bone, more pronouncedon the late static image, so regardless of rare incidence(48/100 000) one must have it in mind8.ConclusionBecause of the clinical course of Caffey’s disease, bonescintigraphy would be one of the first methods per-formed. The characteristic image of the bone scan, espe-cially of the mandible which is involved in more than80% of cases, could help in diagnosis. In conjunction withradiological methods could spare the child from more ag-gressive procedures, even biopsy. Positive or negativefinding of x-ray or other radiological methods must notbe the reason for avoiding the bone scan. Scintigraphicfollow up is estimated from case to case.R E F E R E N C E S1. JAFFE HL, Metabolic, Degenerative and Inflammatory Diseases ofBones and Joints. (Urban&Schwarzenberg, Munchen-Berlin-Wien,1972). — 2. KERR R, Caffey’s disease. In: The Encyclopaedia of MedicalImaging. (Vol III1, 2003). — 3. SCHWEIGER S, CHAOUI R, TENNS-TEDT C, American Journal of Medical Genetics,120 (2003) 547. — 4.BERNSTEIN R, ZALESKE J, Am J Orthop, 24 (1995) 777. — 5. RO-SENTHAL L, LISBONA R, Infantile Cortical Hyperostosis (Caffey’s Dis-ease). In: Skeletal Imaging. (Appleton-Century-Crofts, Norwalk, 1984).— 6. GELFAND MJ, HARCKE HT, Caffey’s Disease (Infantile CorticalHyperostosis). In: SILBERSTEIN EB (Ed): Bone Scintigraphy (FuturaPublishing Company, New York, 1984). — 7. KALLOGHLIAN A K, FRA-YHA HH, DE MOOR MMA, Eur J Pediatr, 155 (1996) 173. — 8. HASE-GAWA S, ICHIYAMA T, MATSUBARA T, Eur J Pediatr, 163 (2004) 175.K. Kova~i},Department of Oncology and Nuclear Medicine, University Hospital »Sestre Milosrdnice«, Vinogradska 29,10000 Zagreb, Croatiae-mail: zvonko.kusic@zg.htnet.hrCAFFYEVA BOLEST DONJE ^ELJUSTI – PRIKAZ SLU^AJAS A @ E T A KPrikazan je slu~aj {estomjese~nog dje~aka sa Caffyevom bolesti donje ~eljusti. Naglasak je stavljen na scintigrafijukosti kao metodu koja me|u prvima dolazi u obzir u dijagnosti~kom postupku, obzirom da klini~ka slika i po~etakbolesti ~esto imitiraju osteomielitis. Zahva}ena donja ~eljust ima karakteristi~an scintigrafski nalaz. Njegovo prepozna-vanje ima odlu~uju}u ulogu u daljnjem postupku, obzirom da bolesnika mo`e po{tedjeti nekih, ~ak i agresivnih metoda.K. Kova~i} et al: Caffey’s Disease, Coll. Antropol. 31 (2007) 1: 359–361361

Mandibular Caffey's disease: case report

The case of a six-month old boy with mandibular Caffey’s disease is described. Emphasis is placed on the role of bone
scintigraphy, as a diagnostic method which would be, because of the clinical picture and the beginning of the disease
(suspected osteomyelitis), one of the first methods performed. Highly characteristic scintigraphic image, when the mandible
is involved, can play the most important role in further treatment, and its recognition can also spare many unnecessary
procedures

Mandibular Caffey's disease: case report

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