Femur Fracture in a Premature Infant: An Unusual Association of Sickle Cell Disease with Osteogenesis Imperfecta.

BACKGROUND Bone health is influenced by multiple factors, including genetic disorders such as osteogenesis imperfecta (OI) and sickle cell disease (SCD). OI is a genetic disorder caused by mutations in genes that encode type 1 collagen. Type 1 collagen synthesizes bones, skin, and other connective tissues. Defective synthesis can lead to brittle bones and other abnormalities. Patients with OI present with spontaneous fractures. SCD is an autosomal-recessive disorder resulting in a major hemolytic anemia. The formation of sickle hemoglobin results in increased blood viscosity and sickling of red blood cells, which causes painful vaso-occlusive crisis in bones and joints, acute chest syndrome, and stroke. CASE REPORT We present the case of an infant with a dual diagnosis of OI and SCD. The patient was born at 26 6/7 weeks gestational age to a mother who had sickle trait. The infant was admitted to the Neonatal Intensive Care Unit for prematurity and respiratory distress with a clinical course that was complicated by other comorbidities. Newborn screening revealed a diagnosis of SCD-SS type. At 83 days of life, the infant presented with swelling and tenderness of the left leg. Imaging revealed a non-displaced fracture of the femoral shaft. The patient was evaluated for OI and genetic testing confirmed the diagnosis of OI type 1. CONCLUSIONS An association between SCD and OI is rare. The impact of these 2 major diagnoses on clinical features and outcome as well as challenges to care remains to be seen.

The association between vitamin D deficiency and hospitalization outcomes in pediatric patients with sickle cell disease.

BACKGROUND: While there is a known association between low vitamin D levels and increased chronic pain in patients with Sickle Cell Disease (SCD), there are no reported studies evaluating the relationship of vitamin D levels and hospitalization outcomes in this population. The aim of this study was to assess this relationship with hospitalization outcomes defined as the number of emergency room (ER) visits, hospital admissions for pain crisis, and length of hospital stay. DESIGN: A retrospective chart review of all pediatric patients with SCD (1-21 years old) was performed from January 2015 to January 2016 in an urban-based hospital setting (n = 134). Those with at least one reported Vitamin D level who maintained follow up during the time studied were enrolled (n = 90). Patient hospitalizations rates were compared between vitamin D deficiency (<20 ng/ml) and sufficiency (>20 ng/ml). RESULTS: Patients with both SCD and vitamin D deficiency were more likely to have at least one Emergency Room visit (p < 0.01), at least one admission for pain crisis (p < 0.01), and a longer length of admission (p < 0.0001) when compared to patients with SCD and sufficient vitamin D levels. CONCLUSION: There is a significant association between vitamin D levels of <20 ng/ml and the number of ER visits, hospital admissions for pain crisis, and length of stay in patients with SCD. Further research is required to assess if correcting vitamin D levels may improve hospitalization outcomes in this population.

Neurological Complications following Blood Transfusions in Sickle Cell Anemia.

In Sickle Cell Anemia (SCA) patient blood transfusions are an important part of treatment for stroke and its prevention. However, blood transfusions can also lead to complications such as Reversible Posterior Leukoencephalopathy Syndrome (RPLS). This brief report highlights two cases of SCA who developed such neurological complications after a blood transfusion. RLPS should be considered as the cause of neurologic finding in patients with SCA and hypertension following a blood transfusion.

Metastatic Colon Cancer in an 18-Year-Old without Predisposing Factors.

While colorectal carcinoma is a common gastrointestinal cancer in adults, it is rare in pediatrics with an incidence of 1 : 1,000,000 and represents a fraction of neoplasms encountered in children. Malignant neoplasms represent a major cause of mortality in the pediatric age group. While presenting with weight loss, iron deficiency, rectal bleeding, abdominal pain, and change in bowel habits, or symptoms similar to acute appendicitis, the working diagnosis may be considered to be anorexia. This case illustrates the importance of considering colon cancer among other disease entities as a cause of unintentional weight loss in adolescents. While this is a rare occurrence in the pediatric population, significant unintentional weight loss with altered bowel habits should prompt a search for underlying malignancy-even in the absence of a positive family history or predisposing cancer syndromes.