Fetal akinesia associated with fixed joints is a common cause for suspicion of arthrogryposis multiplex congenita, a severe condition with heterogeneous etiology. We present the case of a rarer but more benign condition, congenital knee dislocation.The authors report the case of a 27-year-old woman medicated with levetiracetam for epilepsy whose prenatal ultrasound at 22 weeks of gestational age revealed bilateral clubfoot, permanent extension of the inferior limbs with internal knee rotation, normal amniotic fluid quantity, and fetal echocardiography. The remaining ultrasounds revealed similar results. Prenatal genetic testing revealed no pathological findings. The pregnancy was otherwise uneventful. A female newborn was delivered at 39 weeks by cesarean section, with no need for resuscitation. She presented with bilateral knee hyperextension and clubfoot, spontaneous movements, and normal mobility in all other joints. The remaining physical examination and brain and hip ultrasound on the second day of life were normal. These findings were compatible with idiopathic congenital dislocation of the knee (CDK). The patient was undergoing treatment with favorable evolution and adequate neurodevelopment, at the time of this report. This case describes a diagnostic workup with the exclusion of severe syndromic pathologies, namely arthrogryposis. Despite the initial suspicion of arthrogryposis, a condition with a poor prognosis, this infant presented a more benign disease with favorable evolution.
Organizing pneumonia is a pulmonary disease of undefined etiology, with few reported cases in children. It may be secondary to chemotherapy, radiation therapy, infectious agents, or hematopoietic cell transplantation. We present a case of an 18-year-old boy who presented to a follow-up consult with respiratory symptoms at the age of 11 years, 8 years after finishing treatment for a prostatic relapse of a pelvic rhabdomyosarcoma. Chest radiography revealed nodular opacities in the left lung, the one in the left lower lobe with silhouette sign with the left hemidiaphragm. Chest computerized tomography showed 2 nodular lesions in the left upper lobe, one of them cavitated, and another nodular lesion in the left lower lobe; 2 of these nodules had surrounding ground-glass opacities. Microbiological work-up, including tuberculosis screening, was negative. Biopsy revealed findings suggestive of organizing pneumonia. He presented spontaneous resolution. This case presented a diagnostic challenge due to rarity of this condition and its indetermined association with the patient’s history of rhabdomyosarcoma. With this case, the authors alert that organizing pneumonia must be considered in patients presenting with pulmonary lesions with a history of previous hematopoietic stem cell transplants, lung irradiation, or immunosuppression. Pulmonary metastases and secondary tumors must be considered as a differential diagnosis in patients with a heavily treated relapsed rhabdomyosarcoma.
Neonatal lupus is a rare entity, secondary to placental transfer of antibodies from mothers with immune-mediated conditions. While pulmonary involvement is common in lupus, its incidence in neonates is extremely rare, with very few cases being reported in the literature. The authors report a case of a neonate whose mother was diagnosed with systemic lupus erythematosus, with a prenatal diagnosis of third-degree atrioventricular block. While initially admitted in the neonatal intensive care unit with no need for organ support, he presented progressive respiratory failure, initially attributed to sepsis. Favorable clinical progression after pacemaker placement allowed ventilatory weaning, but respiratory failure was again apparent. Chest computer tomography revealed areas of ground-glass lesions, raising the suspicion for lupus pneumonitis. He was started on immunoglobulin and corticosteroids, with clinical improvement. The authors consider this case to be relevant due to the rarity of acute lupus pneumonitis in neonates, alerting that it must be considered a differential diagnosis in neonates with prolonged ventilator dependency.
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