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Microbes & Immunity Neurological and cranial involvement in SAPHO syndrome

A B of inflammatory arthralgias affecting both axial and
peripheral joints, consistent with the characteristics of
spondyloarthropathy, further corroborating the possibility
of an underlying systemic immune-mediated disorder.
This possibility was brought to our attention by the fact
that her son had been diagnosed with SAPHO syndrome.
3
In our patient, a psoriatic spondyloarthropathy diagnosis
was also considered; however, findings of the cranial and
sternum osteitis categorized it as SAPHO syndrome end
of the spectrum, added by the fact of concurrent SAPHO
syndrome diagnosis on her son.

SAPHO syndrome is classically characterized by a
variety of osteoarticular disorders – synovitis, osteitis,
Figure 2. Brain (A) computer tomography and (B) magnetic resonance hyperostosis, enthesitis – associated with acne or
imaging in the axial plane with normal findings in the brain parenchyma, pustulosis (large fluid-filled blister-like areas). The
meninges, and bone. diagnosis of SAPHO syndrome was conducted according
to the diagnostic criteria proposed by Benhamou et al.:
4
(i) osteoarticular manifestations in severe acne; (ii)
osteoarticular manifestations in palmoplantar pustulosis;
(iii) hyperostosis with or without dermatosis; and (iv)
recurrent multifocal chronic osteomyelitis involving the
axial or peripheral skeleton, with or without dermatosis.
However, the diagnosis of this entity remains controversial
due to variability in clinical presentations. Reports of
5,6
patients with an incomplete constellation of the syndrome
reflect these issues. The most well-described neurological
7,8
involvements in SAPHO syndrome occur in the form of
hypertrophic pachymeningitis and/or headache, and, less
commonly, aseptic meningitis. Spinal lesions in the form
9
of spondylodiscitis are also common but rarely lead to
spinal compression. 9
Familial clustering of SAPHO syndrome-like
phenotypes has been previously acknowledged. Familial
10
transmission is associated with an autosomal-dominant
neutrophil disorder characterized by impairment of
internal oxidant production. More recently, a study
11
using array comparative genomic hybridization in a
family comprising two SAPHO syndrome cases (mother
and daughter) unveiled copy number variation in four
genes (CSF2RA, NOD2, MEGF6, and ADAM5) that were
Figure 3. Technetium-99m-hydroxymethylene diphosphonate scintigram validated in 360 case and control samples, establishing
shows diffuse uptake in the frontal bones (left panel) and cervical/dorsal convincing evidence for a genetic component in this
syndesmophytes (right panel). autoinflammatory disorder. 12
In the literature, the occurrence of headaches
3. Discussion with relation to skull vault involvement in SAPHO

The current case revolves around a patient with a syndrome has been reported. 2,13-16 Some of these cases are
headache, which features an initial tension-type headache, summarized in Table 1. The headache is considered to be
followed by a migraine-like pattern. The advanced age bone-related, even in cases with associated hypertrophic
of onset, inconsistent phenotype, and lack of response pachymeningitis, which may also occur in SAPHO
to several drugs prompted searching for a secondary syndrome. The headache is typically unilateral, recurrent,
17
cause. Besides the headache, this patient complained and with prominent hypersensitivity of the overlying

Volume 2 Issue 3 (2025) 164 doi: 10.36922/mi.4667