Interstitial lung disease of infancy caused by a new NKX2-1 mutation.

Patients with personal or family history of congenital hypothyroidism, and/or neurological findings that also have chronic respiratory symptoms may have a mutation in the NKX2.1 gene as the unifying cause of their disease. Brain-lung-thyroid disease is the ensuing condition, which although rare, needs to be part of the differential diagnosis.

Extended-Interval Aminoglycoside Use in Cystic Fibrosis Exacerbation in Children and Young Adults: A Prospective Quality Improvement Project.

This is a prospective quality improvement project for patients with cystic fibrosis who are 5 years of age and older who were admitted for intravenous antibiotic administration as part of treatment of cystic fibrosis exacerbation. The goal of this project was to compare the pharmacokinetics of once-daily versus thrice-daily aminoglycoside use when treating cystic fibrosis exacerbation in different age groups. Of the total of 119 patient encounters, 82.4% were started on once-daily dosing, and the remainder were started on thrice-daily dosing. Patients with pharmacokinetics allowing the continuation of once-daily dosing differed from patients who required a switch to thrice-daily dosing in terms of baseline forced expiratory volume in 1 second, forced expiratory flow from 25% to 75% of vital capacity, age, and body mass index (BMI) but were similar in BMI percentiles. The once-daily dosing group had higher mean 18-hour level, higher mean half-life, higher mean area under the curve, and lower mean elimination constant. This study showed that aminoglycoside clearance is higher in younger children.

Hypervitaminosis A causing hypercalcemia in cystic fibrosis. Case report and focused review.

Hypercalcemia is a rare complication of hypervitaminosis A. We report a pediatric patient with cystic fibrosis (CF) and pancreatic insufficiency who was found to have hypervitaminosis A causing hypercalcemia, complicated by nephrocalcinosis and renal impairment. The patient is a 4-year-old girl with pancreatic-insufficient CF, gastroesophageal reflux, oral aversion, and failure to thrive requiring gastrostomy tube placement. She was prescribed Source CF vitamins, but rarely received the full dose, due to emesis and intolerance. She had routine annual labs that revealed hypercalcemia with elevated blood urea nitrogen and creatinine, which were not present in her previous annual labs. Upon further questioning, her mother reported that she seemed more fatigued for a few weeks, had abdominal pain, and was urinating more frequently. Upon admission to the hospital, laboratory results revealed elevated HCO3, while serum levels of potassium, phosphorus, and albumin were within normal limits. Vitamin D (25-hydroxy) level was low, and vitamin A level was elevated. Extensive metabolic and hormonal workup for the etiology of the hypercalcemia revealed evidence of chronic renal insufficiency and elevated vitamin A levels. She had a renal ultrasound that revealed bilateral nephrocalciosis. Diagnosis of chronic hypervitaminosis A complicated by hypercalcemia was made and was managed by holding vitamin A supplements, aggressive diuresis, and prednisolone. This case emphasizes the importance of regular vitamin A monitoring in patients with CF. There is a wide variability for the lowest intake required to cause toxicity, and the lower limit to cause toxicity has not been determined.

Inflammatory and noninflammatory arthropathy in patients with 18q deletion syndrome.

A 7-year-old girl with 18q deletion syndrome developed chronic progressive polyarticular inflammatory arthropathy. Atypical features of her arthritis included lack of morning stiffness, absence of pain and discomfort, normal acute-phase reactants, and the presence of clinodactyly, low-set thumbs, metatarsus adductus of her feet, and overriding nontender swollen toes. She had a positive antinuclear antibody test, negative rheumatoid factor and anti-cyclic citrullinated peptide, and undetectable immunoglobulin A level. Magnetic resonance imaging of the right knee and the result of the synovial biopsy were consistent with synovitis. She was treated with naproxen, short course of prednisone, and methotrexate with good clinical response that plateaued over time. We analyzed the scarce reports of inflammatory arthropathy in 18q deletion syndrome and proposed an outline for investigating arthropathies in patients with chromosomal aberrations.