Successful therapeutic plasma exchange for a patient with sickle cell disease and fat embolism syndrome after a failure of a response to red cell exchange transfusion.

BACKGROUND: Fat embolism syndrome (FES) is a rare complication, which was reported mostly with milder forms of heterozygous sickle cell disease (SCD). It may present in a catastrophic way with multi-organ failure, particularly involving the pulmonary and neurological systems. Diagnosis is often missed or delayed; and the standard recommended treatment is red cell exchange (RCE) transfusion, which has sub-optimal results, such as debilitating long-term neurological complications. Recently, few reports suggested that the addition of Therapeutic Plasma Exchange (TPE) might further improve the outcome. CASE DESCRIPTION: A 23-year-old woman with homozygote SCD was admitted with bony pains and vaso-occlusive crises. However, her course evolved to respiratory failure requiring mechanical ventilation, decreased level of consciousness, skin rash, severe anemia and thrombocytopenia and a picture consistent with thrombotic microangiopathy. MRI of the brain showed scattered multi-focal ischemic foci and cytotoxic edema. The patient received RCE on the third day after admission without improvement. On the seventh day, TPE was instituted (2 L/day of fresh frozen plasma for 5 days), following which she regained her consciousness and showed an improvement in her laboratory abnormalities. On follow up, she had gradual full neurological recovery and resolution of the MRI findings within a few months. CONCLUSION: FES remains a diagnostic and therapeutic challenge, with significant morbidity and mortality. Success in the management of this reported case with the addition of TPE to RCE supports the notion that TPE may be a potentially helpful modality that deserves further research.

A New Variant Mutation in SKIV2L Gene in Case of Trichohepatoenteric Syndrome.

Trichohepatoenteric syndrome is an autosomal recessive genetic disease with an estimated prevalence of 1:100,000. The mutation of the disease is placed either in SKIV2L or TTC37 genes. The onset of presentation is variable, but symptoms usually start with intractable diarrhea associated with woolly hair abnormality, immune dysfunction, and sometimes hepatic abnormality. This case is of a 10-month-old girl who was born at 37 + 2 weeks due to symmetrical intrauterine growth restriction (IUGR), with a low birth weight (1320 g). It was noticed during her stay in NICU that she had excessive diarrhea on day 8. Gastroenterology suggested starting an extensively-hydrolyzed formula, but no improvement noticed. The multidisciplinary teams decided to order whole-exome sequencing analysis after excluding diarrhea causes. The analysis detected a new variant mutation (c.1297C > T) p. (Arg433Cys). To our knowledge, this is the first time detected in a homozygous state in the SKIV2L gene, as this variant mutation has not been described in any previous literature. Our case was managed mainly by total parenteral nutrition. The patient responded to the treatment appropriately.

Effect of prone positioning in patients with acute respiratory distress syndrome: a meta-analysis.

OBJECTIVE: To review the effectiveness of prone position as compared with supine position, with respect to mortality, improvement in oxygenation, number of days on mechanical ventilation, and ventilator-associated pneumonia. DATA SOURCE: PubMed, EMBASE, Cochrane database, and a manual review of article bibliographies. STUDY SELECTION: Randomized controlled trials comparing > or = 6 hrs of prone position with supine position in adult patients with adult respiratory distress syndrome. DATA EXTRACTION: Two reviewers independently performed assessment of abstracts and study quality. Data were combined in a meta-analysis using random-effect models. MAIN FINDINGS: Five studies were identified. We did not find any significant differences in intensive care unit mortality (three studies, 466 patients; odds ratio, 0.79; 95% confidence interval [CI], 0.45-1.39), 28- to 30-day mortality (three studies, 1,231 patients; odds ratio, 0.95; 95% CI, 0.71-1.28), and 90-day mortality (four studies, 1,271 patients; odds ratio, 0.99; 95% CI, 0.77-1.27). However, prone position showed significant reduction in mortality in patients with higher illness severity (two studies, 113 patients; odds ratio, 0.29; 95% CI, 0.12-0.70). Prone positioning also showed significant and persistent improvement in the PaO2/FiO2 ratio in early (12 hrs to 2 days) (four studies, 866 patients; weighted mean difference, 51.5; 95% CI, 6.95-96.05), intermediate (4 days) (three studies, 754 patients; weighted mean difference, 43.87; 95% CI, 13.86-73.88), and late (10 days) period (four studies, 833 patients; weighted mean difference, 24.89; 95% CI, 15.3-34.48). There were no significant differences in number of days on mechanical ventilation (two studies, 831 patients; weighted mean difference, -0.42 days; 95% CI, -1.56 to 0.72) or incidence of ventilator-associated pneumonia (three studies, 967 patients; weighted mean difference, 0.78%; 95% CI, 0.40-1.51). CONCLUSION: Based on the results of this meta-analysis, prone position improves oxygenation in patients with adult respiratory distress syndrome, and in patients with higher illness severity, it also may reduce mortality.

Bronchiolitis obliterans organizing pneumonia: experience at three hospitals in Riyadh.

BACKGROUND: Because reports of bronchiolitis obliterans organizing pneumonia (BOOP) are lacking from the Middle East, we conducted a retrospective review of of all histopathologically proven cases of BOOP over a 10-year period at three tertiary care hospitals in Riyadh and describe the clinical features and outcome. METHODS: Charts at the three hospitals were searched using a specific code for BOOP or cryptogenic organizing pneumonia (COP). Lung specimens had to show histological proof of BOOP with a compatible clinical picture. Chest radiographs and high-resolution CT scans were reviewed. RESULTS: Twenty cases of biopsy-proven BOOP had well-documented clinical and radiographic data. There were 11 males and 9 females (mean age, 58 years; range, 42-78). The clinical presentation of BOOP was acute or subacute pneumonia-like illness with cough (85%), fever (70%) dyspnea, (85%) and crackles (80%). The most frequent radiological pattern was a bilateral alveolar infiltrate. The most common abnormality on pulmonary function testing (n=14) was a restrictive pattern (11 patients). Most patients (70%) had no underlying cause (idiopathic BOOP). Other associations included thyroid cancer, rheumatoid arthritis, syphilis and Wegner's granulomatosis. Ten patients (50%) had a complete response to steroids, 6 (30%) had a partial response and 3 (15.8%) with secondary BOOP had rapid progressive respiratory failure and died. CONCLUSION: The clinical presentation of BOOP in our patients is similar to other reported series. A favorable outcome occurs in the majority of cases. However, BOOP may occasionally be associated with a poor prognosis, particularly when associated with an underlying disease.