The authors describe the case of a 19-year-old female patient with a primary primitive neuroectodermal tumor (PNET) of the thoraco-lumbar spinal cord, who presented with acute urinary retention and back pain for 2 months. Magnetic resonance imaging revealed an intradural extramedullary tumor, 6.5 cm long, in the region of the conus medullaris. Histological examination disclosed a small round cell tumor with immunohistochemical characteristics of a peripheral PNET. Metastatic workup showed no evidence of an intracranial tumor or metastases outside the neuroaxis. The patient received multidisciplinary treatment, including surgical excision, irradiation of the entire cranio-spinal axis, and high-dose chemotherapy with autologous stem cell rescue. Presently, 24 months after diagnosis, the patient remains in complete remission.
Containment of RSV outbreak in high-risk children is difficult. Screening with reverse transcriptase polymerase chain reaction and the early use of IV palivizumab is safe and may prevent complications of RSV infection among these patients.
Pulmonary manifestations are common in LRBA deficiency. Respiratory characteristics in LRBA-deficient patients should be investigated, monitored, and treated from the time of diagnosis. What is Known: • Lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency is a syndrome of primary immune deficiency and immune dysregulation. • Studies concerning the pulmonary characteristics of LRBA-deficient patients are lacking. What is New: • Respiratory manifestations include infections, bronchiectasis, interstitial lung disease, thoracic lymphadenopathy, and clubbing. • Awareness to pulmonary morbidity in LRBA-deficient patients and involvement of a pulmonologist in the workup and clinical decision-making is important. • Respiratory characteristics in LRBA-deficient patients should be investigated, monitored, and treated from a young age.
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