Patient History: Our Best Diagnostic Tool!

Infantile Corticol Hyperostosis, also known as Caffey Disease is a rare condition characterised by a triad of soft tissue swelling, hyperirritability and fever. The relatively low incidence (3 in 1000 children worldwide) makes it a diagnostic challenge. There is no specific treatment and usually self resolves within 6-12 months.

An infant was referred with a 3 week history of excessive crying and concerns about speech regression. Parents reported improvement after paracetamol but this wasn’t given regularly. Clinical examination was initially normal; he was apyrexial with no clear source of infection. However, he was very difficult to console. After a few days of admission bilateral facial swelling was noted, difficult to appreciate in a ‘chubby’ infant. On further questioning, mum reported the swelling to have been present for a few weeks.

Over a 3 month period a variety of investigations demonstrated persistently raised inflammatory markers and serial ultrasound scans showed bilateral sialadenitis.

Despite treatment with multiple courses of antibiotics, the inflammatory markers remained elevated and non-specific symptoms continued.

An MRI performed by the tertiary ENT team revealed periostitis and mandibular soft tissue oedema consistent with Caffey disease.

This case demonstrates the value of a complete history, thorough examination and the importance of parental concerns. Parents had mentioned initially that the patient had gone from bisyllabic to monosyllabic babbling, this was overlooked due to health professionals not being convinced of parents ability to noticing changes in speech at such a young age. However, speech regression is a symptom of this condition.

In retrospect, this patient presented with two of the triad for Caffey disease plus other common features; speech regression, reduced feeding and raised ESR. This case highlights the importance of exploring all symptoms and how as clinicians we can become fixated on one diagnosis once investigations are suggestive of this.