Ectopic Parathyroid Adenoma in an 11-Year-Old Girl: Case Report and Literature Review.

OBJECTIVE: Primary hyperparathyroidism secondary to an ectopic parathyroid adenoma is rare among children and adolescents. METHODS: We describe the case of an 11-year-old girl with incidentally diagnosed primary hyperparathyroidism secondary to an intrathymic parathyroid adenoma and performed a review of the related literature. RESULTS: 99mTechnetium sestamibi single-photon emission computerized tomography/computed tomography and 4-dimensional computed tomography confirmed the ectopic location of the adenoma. The patient underwent thoracoscopic thymectomy and remained normocalcemic with elevated parathyroid hormone showing a downward trend. Parathyroid hormone normalized 18 months after successful parathyroidectomy. CONCLUSION: We review the case of a rare mediastinal parathyroid adenoma in a pediatric patient and summarize the epidemiologic profile, diagnosis, and management of similar pediatric cases.

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.

Implementation of Electronic Medical Record Template Improves Screening for Complications in Children with Type 1 Diabetes Mellitus.

OBJECTIVE: Health professionals and patients should follow comprehensive screening guidelines to recognize early signs of long-term complications for insulin-dependent type 1 diabetes mellitus (T1DM). The aim of this study is to demonstrate that utilization of electronic medical record (EMR) templates for diabetes management improves adherence to International Society for Pediatric and Adolescent Diabetes (ISPAD) screening guidelines. METHODS: All patients with T1DM who were seen in the outpatient pediatric endocrine clinic (age 0-22 years old) at an urban community-based community hospital during the 2014 calendar year were enrolled in the study (n=49). A retrospective chart review was performed and audited against ISPAD guidelines. An EMR template and order set was then created based on ISPAD screening guidelines with the aim of improving compliance. The templates were implemented in 2015 (initial phase) and 2016 (maintenance phase) and these data were compared to baseline data. A chi-squared test was performed to analyze the differences between the data using SAS version 9.4 (SAS Institute, Inc). A p-value less than 0.05 was considered significant. RESULTS: Significant improvements (p< 0.05) in screening guideline adherence from baseline to maintenance phase data were found for annual retinopathy (0% to 45%) and neuropathic foot (0% to 64%) exams, screening for microalbuminuria (49% to 79%), celiac disease (6% to 81%), lipids (63% to 86%), and basic metabolic panel (69% to 88%). Of note, thyroid function testing was also increased, but was not statistically significant between the years. CONCLUSION: The utilization of EMR templates and order sets for T1DM are valuable tools to aid medical providers in adhering to ISPAD screening guideline.

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.

Triple A syndrome (Allgrove syndrome): improving outcomes with a multidisciplinary approach.

Allgrove syndrome or triple A (3A) syndrome is a multisystem disorder which classically involves the triad of esophageal achalasia, alacrima, and adrenal insufficiency due to adrenocorticotropin hormone insensitivity. It follows an autosomal recessive pattern of inheritance and is associated with mutations in the AAAS (achalasia-addisonianism-alacrima syndrome) gene. Since its first description in 1978, the knowledge on clinical and genetic characteristics has been expanding; however, the current literature is limited to case reports and case reviews. Early recognition of the syndrome is challenging, given the rarity of the condition and high phenotypic heterogeneity even among members of kin. The coordination of care for these patients requires a multidisciplinary team of specialists, including endocrinologists, neurologists, gastroenterologists, ophthalmologists, developmental specialists, dentists, geneticists, and surgeons. In this review, we aim to summarize the current recommendations for the diagnosis, management, and follow-up of patients with 3A syndrome.

Alacrima as a Harbinger of Adrenal Insufficiency in a Child with Allgrove (AAA) Syndrome.

BACKGROUND Allgrove syndrome, or triple "A" syndrome (3A syndrome), is a rare autosomal recessive syndrome with variable phenotype, and an estimated prevalence of 1 per 1,000,000 individuals. Patients usually display the triad of achalasia, alacrima, and adrenocorticotropin (ACTH) insensitive adrenal insufficiency, though the presentation is inconsistent. CASE REPORT Here, the authors report a case of Allgrove syndrome in a pediatric patient with delayed diagnosis in order to raise awareness of this potentially fatal disease as a differential diagnosis of alacrima. CONCLUSIONS The prevalence of Allgrove syndrome may be much higher as a result of underdiagnosis and missed diagnosis due to the variable presentation and sudden unexplained childhood death from adrenal crisis. The authors review the characteristic symptoms of Allgrove syndrome in relation to the case study in order to avoid missed or delayed diagnosis, potentially decreasing morbidity, and mortality in those affected by this disease.

Metformin-responsive classic salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report.

OBJECTIVE: To study the effect of adding metformin to standard steroid replacement therapy in a patient with classic salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency with suboptimal biochemical and clinical control. METHODS: We present the clinical and laboratory findings before and after the addition of metformin to the therapeutic regimen of the study patient. RESULTS: A 17-year-old girl had been diagnosed as a neonate with classic salt-losing congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CYP21A2 deficiency). She was treated with hydrocortisone, 20 mg in the morning and 10 mg at bedtime, and fludrocortisone, 50 mcg daily. While on steroid replacement, she maintained normal serum electrolytes, glucose, blood pressure, and external genitalia, but she continued to express clinical features of obesity, hirsutism, amenorrhea, and acanthosis nigricans. Elevated laboratory measurements included the following: fasting 17-hydroxyprogesterone, 3410 ng/dL; total testosterone, 326 ng/dL; and androstenedione, 390 ng/dL. She was initiated on metformin, 500 mg twice daily after meals. After 3 months, the patient lost 2 kg, amenorrhea resolved, 17-hydroxyprogesterone decreased to 1539 ng/dL, total testosterone decreased to 163 ng/dL, and androstenedione levels remained unchanged. CONCLUSIONS: Metformin, an agent known to reduce insulin resistance, further suppressed the 17-hydroxyprogesterone concentration in a patient with classic congenital adrenal hyperplasia on steroid replacement therapy. Metformin may improve clinical and biochemical outcomes in classic congenital adrenal hyperplasia without the risk of iatrogenic Cushing syndrome.