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Caffey’s Disease
 
Manoj S Thamke*, MR Lokeshwar**
 

Caffey’s disease is a self limited disorder of infantile age group. It’s a very rare paediatric orthopaedic problem seen in infancy.

It is synonymous with “Infantile cortical hyperostosis”, “Caffey’s-Silver Syndrome”, or “de Tony- caffey’s disease”.

There is no racial or sex predilection. Disease is characterized by soft tissue swelling, fever, crying excessively, irritability and characteristic bony changes. It has no definite aetiology.

Introduction

Infantile cortical hyperostosis also known as Caffey’s disease and was first described in 1945 by CAFFEY. 1

It’s a self limited disorder characterized by soft tissue swelling, periosteal new bone formation, cortical thickening of underlying bone, fever and irritability.2-6

Case Report

Two months old female child born to non consanguineous parents, presented since 8 days with a history of fever and irritability and crying excessively since 6 days.

The child had absolutely normal birth history and no history of trauma since birth. Both parents were apparently normal and also no history of similar complaints in other family members.

      Full term normal delivered.
      On Examination - Wt.3.2 kg.
      B.C.G. pustule over Lt. arm. discharge ++

Febrile with fever ranging from 102-104oF. Vitals were stable.

Shoulder Region Swelling and Redness   Coarse and Irregular thick Periosteal Reaction
Fig. 1 : Showing the left shoulder region swelling and redness.   Fig. 2 : Showing coarse and irregular thick periosteal reaction of the left clavicle.
Marrow Oedema    
Fig. 3 : MRI left clavicle showing marrow oedema.    

Local examination

Left shoulder region-swelling and redness present on the left upper extremity (Fig. 1). More prominent over clavicle. Restricted and painful movements of left shoulder.

There was tender swelling firm to hard consistency and redness over the left clavicular region (Fig. 2). Left knee swelling +? Tender. But no redness.

Systemic exam. - Normal. No hepatosplenomegaly

Clinical Impression and Differential Diagnosis

  • Disseminated Osteomyelitis
  • T.B. Osteomyelitis- Following BCG.
  • Congenital syphilis
  • Battered baby syndrome
    Investigations done revealed,
    Blood count CBC: 15000 P64% L36%,
    ESR : 80 mm at end of 1 hour
    CRP – 32 mg/dl, -positive.
    Alkaline Phosphatase – 1000 u/L.
    Blood Culture negative
    VDRL and HIV were also negative.

In view of Leucocytosis with P 64% and +ve CRP, initially child was treated with antibiotics.

Local swelling and redness decreased movements Improved. Counts and CRP decreased. However child had persistence of swelling over the leg, and hence X-ray left clavicle and left thigh was repeated which showed no improvement and hence Caffey’s disease was considered.

Radiological investigation revealed

Coarse and irregular thick periosteal reaction of the clavicle and bones with surrounding muscle oedema.
Initially clinical impression was kept as disseminated Osetomyelitis and patient was started on IV Antibiotics which were stopped after the blood culture reports.

  • Normal Mandible. No evidence of periosteal reaction.
  • MRI Left arm suggestive of left clavicle marrow oedema (Fig. 3), surrounding muscle oedema, lymphadenopathy+
  • CT Scan of clavicle: thick periosteal reaction around left clavicle seen.

Characteristic radiological findings after the skeletal survey, and, with age of onset of presentation, we diagnosed that child is having Caffey’s disease.

Child was treated with syrup Ibugesic and there was remarkable improvement in pain, tenderness and swelling in 12 days and child was discharged. However child was lost for follow up as they were from out station.

Discussion

Onset is usually before 5 months of life with resolution by 3 years of age. Severe form of cases whose onset is in the prenatal period (as early as 24th wk of intrauterine life) have been described.7- 9

  • Characterized by new bone formation and intraperiosteal inflammatory reaction extending into the neighbouring soft tissues.
  • Bones commonly affected are mandible and then ulna, tibia, clavicle, scapula and ribs. Vertebral bodies are spared.
  • It has no definite aetiology.

Reported aetiology includes10-17

  • Inherited defects of the arterioles of the periosteum,
  • Allergy and infective theories have been postulated.
  • Familial incidence is compatible with the dominant inheritance.10-17
  • Usual age of onset is ninth week of postnatal life, but cases have been reported even at birth and as early as twenty fourth week of intra uterine life.5,7,9
  • There are two forms, familial and sporadic.
  • Sporadic form: common site mandible, late presentation.
  • Familial form: common site Tibia, inherited as autosomal dominant with early presentation.
  • 24% of patients may manifest at birth. Severe AR form whose onset is in the prenatal period.
  • Characteristic radiographic findings: marked periosteal reaction, periosteal new bone formation, oedema and swelling of surrounding soft tissue.

The disease has a protracted course ranging from weeks to months and occasionally death in severe form of cases (AR form).

  • l Blood test may show anaemia, increased ESR, CRP, elevated alkaline phosphatase. X-ray shows periosteal hyperostosis confined to diaphysis of long bones. Over a period of time it becomes homogenous with the underlying cortex

Triad of irritability, swelling and characteristic bone lesions are key to the diagnosis.

  • Treatment: no specific treatment. Steroids for extensive disease. NSAIDs for recurrent disease. Orthopaedic intervention may be required.
  • Course: recovery within 6 months. Occasionally death in severe forms.

Bibliography

  1. Caffey J, Silverman WA. Infantile cortical hyperostosis: preliminary report of a new syndrome. Am J Roentgenol 1945; 54 : 1-16.
  2. Phatak SV, Kolwadkar PK, Phatak MS. Pictorial Essay: Infantile Cortical Hyperostosis. Ind J Image 2004, 14: 2 : 185-86.
  3. Pajewski M, Vure E. Late manifestations of infantile cortical hyperostosis (Caffey’s disease). Br J Radiol 1967; 40 : 90-95.
  4. Pickering D, Cuddigan B. Inantile cortical hyperostosis associated with thrombocythaemia. Lancet 1969; 2 : 464-65.
  5. Tabardel Y, Seghaye MC, Senterre J. Neonatal Caffey-Silverman disease with thrombocythemia and increased C-reactive protein immunoglobulin levels. Arch Fr Pediatr 1988; 45 : 263-65.
  6. Body RDH, Shaw DG, Thomas BM. Infantile cortical hyperostosis with lytic lesions in the skull. Arch Dis Child 1972; 47 : 471-72.
  7. Dalhstrom JE, Arbuckle SM< Kozlowski K, Peek MJ, Thomson M, Reynolds GJ, Sillence DO. Letha prenatal onset infantile cortical hyperostosis (Caffey disease). Pathology 2001; 33 : 521-25.
  8. Kozlowski K, Tsuruta T. Dysplastic cortical hyperostosis: a new form of lethal neonatal dwarfism. Br J Radiol 1989; 62 : 376-78.
  9. Schweiger S, Chaoui R, Tennstedt C, et al. Antenatal onset of cortical hyperostosis (Caffey disease): case report and review. Am J Med Genet A 2003; 120 : 547-52.
  10. MacLachlan AK, Gerrard JW, et al. Familial infantile cortical hyperostosis in a large Canadian family. Can Med Assoc J 1984; 130 : 1172-74.
  11. Clemett AR, Williams JH. The familial occurrence of infantile cortical hyperostosis. Radiology 1963; 80 : 409-16.
  12. Emmery L, Timmermans J, Christens J, et al. Familial infantile cortical hyperostosis. Eur J Pediatr 1983; 141 : 56.
  13. Sanders DG, Weijers RE:MRI findings in Caffeys disease. Pediatr Radiol 1994; 24 : 325.
  14. Padfield E, Hicken P. Cortical hyperostosis in infants: a radiological study of sixteen patients.
  15. Bull MJ, Feingold M. Autosomal dominant inheritance of Caffey disease. BDOAS 1974; 10 : 139-46.
  16. Clemett AR, Williams JH. The familial occurrence of infantile cortical hyperostosis. Radiology 1963; 80 : 409-16.
  17. Saul RA, lee WH, Stevenson RE. Caffey’s disease revisited: further evidence for autosomal dominant inheritance with incomplete penetrance. Am J Dis Child 1982; 136 : 56-60.
  18. Bernstein RM, Zaleske DJ. Familial aspects of Caffeys disease. Am J Orthop 1995; 24 : 777.
  19. Emmery L, Timmermans J, Christens J, et al. Familial infantile cortical hyperostosis. Eur J Pediatr 1983; 141 : 56.
  20. Couper RT, McPhee A, Moris L. Indomethecin treatment of infantile cortical periostosis in twins. J Paediatr Child Health 2001; 37 : 305-8.
  21. Langewisch WH. Infantile cortical hyperostosis familial occurrence in a mother and daughter. J Paediatr 1975; 87 : 323-24.

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*Registrar; **Associate Professor; ***HOD; +Observer; LTMGH Sion Hospital, Mumbai 400 022

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