Scurvy masquerading as IgA vasculitis.

BACKGROUND: Vitamin C deficiency, or scurvy, is rare but poses risks for children with poor diets, limited resources, or malabsorption issues. It may also be common in children with restrictive or selective dietary habits in children with global developmental delay, autism spectrum disorder, and physical disabilities. Symptoms include fatigue, irritability, joint and muscle pain, joint swellings, edema, swollen gums, easy bruising, and delayed wound healing. Early recognition and prompt intervention are essential to prevent the progression of symptomatic vitamin C deficiency in children. CASE PRESENTATION: We present a case of a 13-year-old boy with developmental delay secondary to Lennox Gastaut syndrome referred for suspected recurrent, severe, and atypical IgA vasculitis. He presented with irritability, loss of appetite, petechial and ecchymotic lower limb lesions, unilateral gum swelling, severe arthritis, peripheral oedema, severe weight loss, anaemia, and raised inflammatory markers. Multiple investigations were performed before the diagnosis of scurvy was made. A surgical finding of friable gingival tissue with multiple loose teeth, a skin biopsy with follicular hyperkeratosis and extravasated perifollicular red blood cells, and a typical X-ray finding led to the diagnosis of scurvy. CONCLUSION: Scurvy should be given careful consideration as a differential diagnosis in patients presenting with musculoskeletal issues, mucocutaneous complaints, and constitutional symptoms such as malaise, asthenia, irritability, and loss of appetite. A focused and detailed dietary history looking for a lack of good sources of vitamin C can be an easy indicator of this differential. Imaging studies revealing the typical features can also help make the diagnosis. Pathology of the skin revealing pathognomonic features can add to the certainty of the diagnosis. In the absence of all else, the rapid response to treatment with an appropriate dose of vitamin C has a diagnostic and therapeutic role.

Mucoepidermoid carcinoma of the bronchus in two children: Case reports.

Childhood mucoepidermoid carcinomas (MEC) of the bronchus are rare. They present with non-specific symptoms and signs making diagnosis delayed. We present two children with bronchial MEC managed in a tertiary children's hospital in Cape Town, South Africa. The first was a 11-year male with recurrent haemoptysis and the second child was a 6-year female with recurrent unifocal pneumonia. Chest CT scan and bronchoscopy with biopsy confirmed the diagnosis. Both patients underwent treatment, including surgery and are doing well. It is important to exclude endobronchial lesions when children present with recurrent respiratory symptoms, since early diagnosis will enable lung-sparing treatment.

A cross-sectional study of the spectrum, aetiology and clinical characteristics of adult mitral valve disease at Chris Hani Baragwanath Academic Hospital.

BACKGROUND: Valvular heart disease constitutes a considerable amount of cardiovascular morbidity and mortality worldwide. There is a scarcity of data from Africa. METHODS: In this descriptive, cross-sectional study, we documented the demographic, clinical and echocardiographic features of current patients with adult mitral valve disease (MVD) at Chris Hani Baragwanath Academic Hospital from December 2018 to March 2019. RESULTS: The study included 134 patients (mean age 50 ± 13.3 years) and 77% were female. The majority were of African ethnicity (96%). Mitral regurgitation (39%), followed by mixed MVD (38%) were the dominant lesions. Mitral stenosis was found in 23% of the patients. The main aetiologies were rheumatic heart disease (80%), mitral valve prolapse (11%), myxomatous degeneration (6%) and infective endocarditis (3%). Hypertension (30%) and HIV (12%) were the main co-morbidities. Heart failure was present in 78% of the patients at index hospitalisation. The main complications were pulmonary hypertension (28%) and atrial fibrillation (14%). CONCLUSION: The patients with MVD tended to be older African females with co-morbidities who had predominant rheumatic mitral regurgitation.

Exogenous lipoid pneumonia: an important cause of interstitial lung disease in infants.

Exogenous lipoid pneumonia (ELP), an important cause of interstitial lung disease, often goes unrecognized. We conducted a retrospective study of children with histologically confirmed ELP at Red Cross Children's Hospital, South Africa. Twelve children of Zimbabwean heritage aged 2.1-10.8 months were identified between 2012 and 2017. Repeated oral administration of plant-based oil for cultural reasons was reported by 10 of 11 caregivers. Cough (12/12), tachypnoea (11/12), hypoxia (9/12), and diffuse alveolar infiltrates on chest radiography (12/12) were common at presentation. Chest computed tomography revealed ground-glass opacification with lower zone predominance (9/9) and interlobular septal thickening (8/9). Bronchoalveolar lavage specimens appeared cloudy/milky, with abundant lipid-laden macrophages and extracellular lipid on Oil-Red-O staining (12/12), with polymicrobial (6/12) and Mycobacterium abscessus (2/12) co-infection. Antibiotics, systemic corticosteroids, and therapeutic lavage were interventions in all eight and five patients, respectively. Clinicians should consider ELP in children with non-resolving pneumonia in settings with similar practices.

Utility of Point-of-care Ultrasound in Children With Pulmonary Tuberculosis.

BACKGROUND: Point-of-care ultrasound (POCUS) detects extrapulmonary tuberculosis (EPTB) in HIV infected adults but has not been evaluated in children despite their higher risk of EPTB. This study's aims were to investigate feasibility of POCUS for EPTB in children, frequency of POCUS findings suggestive of EPTB and time to sonographic resolution of findings with treatment. METHODS: This prospective South African cohort study enrolled children with suspected pulmonary tuberculosis (PTB). POCUS for pleural, pericardial or ascitic effusion, abdominal lymphadenopathy or splenic or hepatic microabscesses was performed and repeated at 1, 3 and 6 months of tuberculosis (TB) treatment. Prevalence of POCUS findings and their association with HIV infection was investigated in children with confirmed PTB (microbiologically proven), unconfirmed PTB (clinically diagnosed) or unlikely TB (respiratory disease that improved during follow-up without TB treatment). RESULTS: Of 232 children [median age 37 months (interquartile range, 18-74)], 39 (17%) were HIV infected. Children with confirmed or unconfirmed PTB had a higher prevalence of POCUS findings than children with unlikely TB [18 of 58 (31%) and 36 of 119 (30%) vs. 8 of 55 (15%); P = 0.04 and P = 0.03, respectively]. Pleural effusion [n = 30 (13%)] or abdominal lymphadenopathy [n = 28 (12%)] were the most common findings; splenic microabscesses [n = 12 (5%)] were strongly associated with confirmed PTB. Children coinfected with HIV and TB were more likely than HIV-uninfected children with TB to have abdominal lymphadenopathy (37% vs. 10%; P < 0.001) or splenic microabscesses (23% vs. 3%; P < 0.001]. Most ultrasound findings were resolved by 3 months with appropriate TB treatment. CONCLUSIONS: POCUS for EPTB in children with PTB is feasible. The high prevalence of findings suggests that POCUS can contribute to timely diagnosis of childhood TB and to monitoring treatment response.

Imaging Features of the Brain, Cerebral Vessels and Spine in Pediatric Tuberculous Meningitis With Associated Hydrocephalus.

BACKGROUND: Pediatric tuberculous meningitis (TBM) leads to high rates of mortality and morbidity. Prompt diagnosis and initiation of treatment are challenging; imaging findings play a key role in establishing the presumptive diagnosis. General brain imaging findings are well reported; however, specific data on cerebral vascular and spinal involvement in children are sparse. METHODS: This prospective cohort study examined admission and followed up computed tomography brain scans and magnetic resonance imaging scans of the brain, cerebral vessels (magnetic resonance angiogram) and spine at 3 weeks in children treated for TBM with hydrocephalus (HCP; inclusion criteria). Exclusion criteria were no HCP on admission, treatment of HCP or commencement of antituberculosis treatment before study enrollment. Imaging findings were examined in association with outcome at 6 months. RESULTS: Forty-four patients (median age 3.3 [0.3-13.1] years) with definite (54%) or probable TBM were enrolled. Good clinical outcome was reported in 72%; the mortality rate was 16%. Infarcts were reported in 66% of patients and were predictive of poor outcome. Magnetic resonance angiogram abnormalities were reported in 55% of patients. Delayed tuberculomas developed in 11% of patients (after starting treatment). Spinal pathology was more common than expected, occurring in 76% of patients. Exudate in the spinal canal increased the difficulty of lumbar puncture and correlated with high cerebrospinal fluid protein content. CONCLUSION: TBM involves extensive pathology in the central nervous system. Severe infarction was predictive of poor outcome although this was not the case for angiographic abnormalities. Spinal disease occurs commonly and has important implications for diagnosis and treatment. Comprehensive imaging of the brain, spine and cerebral vessels adds insight into disease pathophysiology.