The diagnosis is based on observing the patient and finding the constellation of symptoms and signs described above. A few blood tests help, by showing signs of long standing inflammation. There is no specific test for the disease, though now that the gene that causes the disease is known, that may change. Routine laboratory investigations are non specific: anaemia, increased numbers of polymorphs, an elevated erythrocyte sedimentation rate and elevated concentrations of C-reactive protein are typically all the abnormalities found. Lumbar puncture shows elevated levels of polymorphs (20-70% of cases) and occasionally raised eosinophil counts (0-30% of cases). CSF neopterin may be elevated. The X ray abnormalities are unique and characteristic of this syndrome. These changes include bony overgrowth due to premature ossification of the patella and the long bone epiphyses in very young children and bowing of long bones with widening and shortening periosteal reaction in older ones. Audiometry shows a progressive sensineural deafness. Visual examination shows optic atrophy and an increase in the blind spot. CT is usually normal but may show enlargement of the ventricles. MRI with contrast may show enhancement of leptomeninges and cochlea consistent with chronic meningitis. EEG shows a non-specific pattern with slow waves and spike discharges. Polymorphs tend to show increased expression of CD10. Differential diagnosis * Aicardi–Goutières syndrome * Still's disease * Schnitzler syndrome * Hyperimmunoglobulin D syndrome * Familial Mediterranean fever * Marshall syndrome * Castleman's disease Still's disease does not affect children under 6 months old. Hyperimmunoglobulin D syndrome in 50% of cases is associated with mevalonate kinase deficiency which can be measured in the leukocytes.
Neonatal-onset multisystem inflammatory disease
Neonatal toxic shock-like exanthematous disease
Neonatal meningitis
Neonatal sepsis
Shaken baby syndrome
Neonatal hepatitis
Neonatal hypocalcemia
Neonatal diabetes