A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection.

BACKGROUND: Autosomal dominant signal transducer and activator of transcription 1 (STAT1) deficiency, part of the Mendelian susceptibility to mycobacterial disease (MSMD) group, frequently causes disseminated Bacillus Calmette-Guérin (BCG) infections, but has not been reported from Sub-Saharan Africa (SSA) where routine birth BCG vaccination is practiced. CASE PRESENTATION: Two half-siblings presented five years apart, with multifocal osteomyelitis as the dominant feature of disseminated BCG, which was successfully treated with antimycobacterial therapy. Whole exome sequencing demonstrated a novel heterozygous substitution in the splice site between intron 13 and exon 14 of the STAT1 gene, NM_007315: c.1128-1G>A, in the proband and his mother and was later confirmed in his half-brother. CONCLUSIONS: Children with BCG vaccine complications in SSA should be referred for further investigation and particular consideration of MSMD.

Let's face it - 13 unusual causes of facial masses in children.

UNLABELLED: Facial swelling is commonly encountered in paediatric patients and is typically related to an underlying infection. The spectrum of possible causes, however, is wide, and includes traumatic, inflammatory, nutritional and neoplastic aetiologies. In this pictorial essay we present 13 examples of rare conditions selected from a total of 136 MRI examinations performed at our institution between April 2007 and May 2013. These include HIV-associated malignancies such as a case of plasmablastic lymphoma, parotid gland tumours including a parotid hamartoma, rare congenital lesions such as a thyroid fetiform teratoma, and infective lesions including tuberculosis of the mandible. In many cases, only minimal information could be gleaned from the literature, particularly with regard to imaging findings. An analysis of the spectrum of masses and specific clinical presentations allowed for the construction of a diagnostic flowchart which may serve to assist in unusual cases. TEACHING POINTS: • Facial swelling is commonly encountered in paediatrics, with a wide spectrum of possible aetiologies. • MRI is the favoured imaging modality for accurate assessment. • Facial swelling is typically infectious in nature, but includes various benign and malignant causes. • This pictorial essay presents 13 examples of rare conditions with corresponding imaging.

A pilot study evaluating the "STATSCAN" digital X-ray machine in paediatric polytrauma.

A pilot study evaluating the use in paediatric polytrauma of the STATSCAN, a low-radiation dose, fan-beam digital radiography unit (Lodox Systems, Sandton, South Africa). Over 3 months, 23 polytrauma patients treated at the Emergency Unit of the Red Cross Children's Hospital in Cape Town, South Africa, were imaged on the STATSCAN. Image quality, diagnostic equivalence and clinical efficiency were compared with a computed radiography (CR) system (Fuji FCR 5000, Fuji Photo Film, Tokyo, Japan). The STATSCAN antero-posterior bodygram correlated well technically and diagnostically with CR, showing 96% of the fractures in the cohort. It allowed superior visualisation of the trachea and main bronchi and imaging was, on average, 13% faster than CR. The STATSCAN could play an important role in paediatric polytrauma. The clinical significance of its superior demonstration of the trachea and main bronchi requires further evaluation.