ABSTRACT
DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum. Conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia are the classic triad of DiGeorge syndrome. As this syndrome is characterized by hypoplastic or aplastic thymus, there are missing thymic shadow on their plain chest x-ray. Immunodeficient patients are traditionally known to be at an increased risk for malignancy, especially lymphoma. We experienced a 7-year-old DiGeorge syndrome patient with mediastinal mass shadow on her plain chest x-ray. She visited Severance Children's Hospital hospital with recurrent pneumonia, and throughout her repeated chest x-ray, there was a mass like shadow on anterior mediastinal area. We did full evaluation including chest computed tomography, chest ultrasonography, and chest magnetic resonance imaging. To rule out malignancy, video assisted thoracoscopic surgery was done. Final diagnosis of the mass which was thought to be malignancy, was lymphoproliferative lesion.
ABSTRACT
BACKGROUND AND PURPOSE: Temporal lobe epilepsy is one of the most common forms of medically refractory epileptic syndromes. In a small percentage, temporal lobectomy fails to control the seizures in patients with epilepsy of clear temporal origin, and in some of these patients, seizures originating from the insular cortex is believed to be the cause behind the surgical failures. We retrospectively analyzed the [(18)F]FDG-positron emission tomography (PET) results of patients who received temporal lobe surgery for presence of insular hypometabolism, and compared the surgical outcome to verify whether insular hypometablism was related with difference in post-operative results. METHODS: 13 patients were enrolled, and clinical variables, post-operative pathology, magnetic resonance imaging and PET results were analyzed for possible differences between the patients with or without insular hypometabolism. RESULTS: 7 patients showed insular hypometabolism, while 6 patients were clear of insular lesion on PET exam. 8 patients received anterior temporal lobectomy with amygdalohippocampectomy (AH), 2 patients received radical temporal lobectomy with AH, and 3 patients received insular cortisectomy. Post-operative results were favorable in 8 patients and unfavorable in 5, with unfavorable outcomes in all recipients of insular cortisectomy. Presence of insular hypometabolism did not have any significant relationship with the post-surgical outcome (p=0.266), but its trend showed a tendency towards favorable outcome if insular hypometabolism was not present. CONCLUSIONS: Presence of insular hypometabolism in [(18)F]FDG-PET analysis was not significantly correlated with the post-operative outcome, and recipients of insular cortisectomy among our patients with insular hypometabolism resulted in poor surgical outcome. However, the outcome trend showed a tendency towards better surgical outcome with absence of hypometabolic lesion in the ipsilateral insular cortex. Further studies employing a larger patient group is needed.
