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

Abstract

INTRODUCTION:

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.

CASE REPORT:

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.

CONCLUSION:

[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.

• Authors: I Kechaou, A Rouissi, I Kraoua, A Regayeg, I Turki, M Ben Hamouda, N Gouider-Khouja
• Journal: Revue neurologique (Rev Neurol (Paris)) Vol. 165 Issue 12 Pg. 1111-6 (Dec 2009) ISSN: 0035-3787 [Print] France
• Vernacular Title: Tuberculose cérébromédiastinale chez un enfant atteint de syndrome de Say-Barber-Miller probable : un lien de causalité ?
• PMID: 19108857 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Anorexia (etiology)
• Body Dysmorphic Disorders (pathology)
• Child
• Consanguinity
• Diagnosis, Differential
• Face (abnormalities)
• Female
• Humans
• Intellectual Disability (genetics)
• Male
• Pedigree
• Syndrome
• Tuberculoma (diagnosis)