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


METHODS
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.


CONCLUSIONS
[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.
Kechaou
I
I
Service de neurologie pédiatrique, institut national de neurologie, 1007 La Rabta, Tunis, Tunisie.
Rouissi
A
A
Kraoua
I
I
Regayeg
A
A
Turki
I
I
Ben Hamouda
M
M
Gouider-Khouja
N
N
D000855:Anorexia / Q000209:etiology; D057215:Body Dysmorphic Disorders / Q000473:pathology; D002648:Child; D003241:Consanguinity; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014375:Tuberculoma / Q000175:diagnosis