Primary orbital rhabdoid tumour masquerading as atypical persistent foetal vasculature.

We present a case of primary rhabdoid tumour of the orbit. Presenting features at birth included congenital ptosis, conjunctival injection, hyphaema and microphthalmia. The unique presentation caused a late diagnosis following the development of rapid proptosis 6 months later. We suggest that orbital rhabdoid tumour be considered in the differential diagnoses of patients presenting with atypical persistent foetal vasculature features.

Speckled brain lesions in Incontinentia Pigmenti patients with acquired brain syndromes.

Incontinentia Pigmenti (IP) is a neurocutaneous syndrome, with malformations of cortical development and neurodevelopmental delay in some patients. Neonates with IP may develop acute encephalopathy with multifocal ischemic brain lesions with a speckled pattern on diffusion-weighted magnetic resonance imaging (MRI). We observed a similar MRI pattern in 4 female patients with IP who presented with childhood acute encephalopathy syndromes. These patients, aged 9 days to 13 years old, had acute neonatal encephalitis, Influenza A virus related acute necrotizing encephalopathy (ANE) of childhood, Influenza B virus related acute encephalopathy with biphasic seizures and late restricted diffusion (AESD) and acute disseminated encephalitis (ADEM) with transverse myelitis (TM). These lesions could possibly reflect the white matter changes in IP patients with encephalopathy.

Consecutive siblings, each with two separate small bowel atresias.

The familial occurrence of multiple-level intestinal atresia in newborn is extremely uncommon, with very sporadic similar cases reported in the literature. We present a case of multiple intestinal atresia in two consecutive siblings who successfully underwent surgical repair.

Increasing Obesity in Treated Female HIV Patients from Sub-Saharan Africa: Potential Causes and Possible Targets for Intervention.

OBJECTIVES: To investigate changing nutritional demographics of treated HIV-1-infected patients and explore causes of obesity, particularly in women of African origin. METHODS: We prospectively reviewed nutritional demographics of clinic attenders at an urban European HIV clinic during four one-month periods at three-yearly intervals (2001, 2004, 2007, and 2010) and in two consecutive whole-year reviews (2010-2011 and 2011-2012). Risk-factors for obesity were assessed by multiple linear regression. A sub-study of 50 HIV-positive African female patients investigated body-size/shape perception using numerical, verbal, and pictorial cues. RESULTS: We found a dramatic rise in the prevalence of obesity (BMI > 30 kg/m(2)), from 8.5 (2001) to 28% (2011-2012) for all clinic attenders, of whom 86% were on antiretroviral treatment. Women of African origin were most affected, 49% being obese, with a further 32% overweight (BMI 25-30 kg/m(2)) in 2012. Clinical factors strongly associated with obesity included female gender, black African ethnicity, non-smoking, age, and CD4 count (all P < 0.001); greater duration of cART did not predict obesity. Individual weight-time trends mostly showed slow long-term progressive weight gain. Investigating body-weight perception, we found that weight and adiposity were underestimated by obese subjects, who showed a greater disparity between perceived and actual adiposity (P < 0.001). Obese subjects targeted more obese target "ideal" body shapes (P < 0.01), but were less satisfied with their body shape overall (P = 0.02). CONCLUSION: Seropositive African women on antiretroviral treatment are at heightened risk of obesity. Although multifactorial, body-weight perception represents a potential target for intervention.