[Cerebromediastinal tuberculosis in a child with a probable Say-Barber-Miller syndrome: a causative link?]

Tuberculosis continues to be a public health problem in emerging countries with a recent evidence of increased incidence of extrapulmonary localization in developed countries probably linked to HIV. To our knowledge the occurrence of cerebro-mediastinal tuberculosis in an immuno-competent child has not been previously described; moreover the child we describe has a probable Say-Barber-Miller syndrome. We discuss a putative causative link between this syndrome and the occurrence of tuberculosis.

A seven-year-old girl presented to our department with a history of infantile encephalopathy since birth characterized by a facial dysmorphy (evocative of a bird face), microcephaly, and mental retardation, and with recurrent infections. The child had complained of back pain for several months; the parents reported anorexia, loss of weight. Spinal and cerebral MRI showed a mediastinal mass involving the spine and cerebral lesions evocative of tuberculomas. The tuberculin interdermal reaction was positive. Culture of a vertebral biopsy was positive for Koch bacillus. Anti-tuberculosis treatment improved general and local status. An extensive immunological work-up was normal.

[corrected] This observation is exceptional in many aspects: very early age of onset of extrapulmonary tuberculosis, no immune deficit, association with a rare congenital neurological syndrome. We discuss the possible link between this entity and the occurrence of tuberculosis.