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Introduction: Sacral agenesis is a rare congenital condition that is characterized by sacrococcygeal bone agenesis. It is associated with spinal cord anomalies as well as problems with the genitourinary system, large bowel, and lower extremities. Fetal ultrasound allows for diagnosis even before birth. Case presentation: The authors present the case of a 1-year-old girl with sacral agenesis type III and bilateral congenital talipes equinovarus with spina bifida who was born to a nondiabetic mother and had a normal anomaly scan. Clinical discussion: People with less severe forms of sacral agenesis can live a normal life, and it is not connected with cognitive impairment; however, concomitant bladder, colon, and lower limb disorders cause considerable morbidity. The majority of treatment is supportive, frequently requiring orthopedic, urological, gastroenterological, pediatric, and physiotherapy support. Conclusion: Genetic and prepregnancy counseling, as well as early screening of high-risk mothers, remain the only options for prevention of the disease since treatment is mostly supportive.
RESUMO
We present a challenging case of disseminated Nocardia brasiliensis infection manifesting as brain and skin abscesses. Nocardia is an important potential pathogen to consider in patients with a relevant travel history to endemic regions or atypical presentations, such as brain and skin abscesses. About one-third of patients with Nocardia infections are immunocompetent, and their symptoms are nonspecific. This case shows the limitations of imaging studies in diagnosing Nocardia brain abscesses, as the patient's non-magnetic resonance (MR) conditional pacemaker precluded MRI evaluation and led to a diagnostic challenge. Therefore, the patient's initial evaluation was presumed to be primary lung cancer with brain metastasis. High clinical suspicion, imaging studies (especially MRI), and tissue biopsy are needed to diagnose this type of brain abscess in a timely manner to prevent further complications.