Hipofiz sapı kesinti sendromunda manyetik rezonans görüntülemenin önemi

Objective: To evaluate the importance of magnetic resonance imaging in the treatment and follow-up of patients with pituitary stalk interruption syndrome. Material and Methods: The study included patients who were admitted to the Endocrinology and Metabolism Clinic of our hospital from 2009 to 2013. Pituitary functions, growth and development curves, and magnetic resonance imaging findings of the patients were evaluated during the follow-up period. Results: The study included three men and two women. Four patients had multiple pituitary hormone deficiency. All cases were diagnosed with short stature with respect to their chronological age. Four patients were diagnosed with pituitary stalk interruption syndrome in their childhood. Isolated growth hormone deficiency was observed only in one patient. Conclusion: Pituitary insufficiency should be considered when evaluating pituitary stalk interruption syndrome. The presence of pituitary stalk and the change in the size of the anterior pituitary gland are crucial magnetic resonance imaging findings in monitoring pituitary functions. In addition, evaluating the size of the pituitary gland may allow early detection of pituitary insufficiency in adult patients with pituitary stalk interruption syndromeAmaç: Hipofiz sapı kesinti sendromu hastalarının takip ve tedavisinde manyetik rezonans görüntülemenin önemini değerlendirmektir. Gereç ve Yöntemler: Çalışma grubumuz, 2009-2013 yılları arasında endokrinoloji ve metabolizma hastalıkları polikliniğimize başvuran hastalardan oluşmaktadır. Hasta takibinde hipofiz fonksiyonları, büyüme ve gelişme eğrileri ve manyetik rezonans görüntüleme bulguları değerlendirmeye alındı. Bulgular: Çalışma grubumuz üç erkek ve iki kadın hastadan oluşmaktadır. Dört hastamızda çoklu hipofizer hormon yetmezliği saptandı. Hastalarımızın hepsi kronolojik yaşlarına göre kısa boylu olmaları nedeni ile değerlendirilirken tanı konuldu. Dört hastamıza çocuk yaş grubunda tanı konulmuştu. Sadece bir hastada izole büyüme hormon eksikliği mevcuttu. Sonuç: Hipofiz sapı kesinti sendromlu olguları değerlendirirken hipofiz yetmezliği dikkate alınmalıdır. Manyetik rezonans görüntülemede hipofiz sapının varlığı ve ön hipofiz bezinin büyüklüğünün zaman içinde değişimi, hipofiz bezinin fonksiyonlarının takibinde önemlidir. Ayrıca, hipofiz sapı kesinti sendromlu erişkin yaştaki hastalarda, hipofiz bezinin büyüklüğünün değerlendirilmesi, hipofiz yetmezliğinin erken tanısına olanak sağlayabilmektedir

BEND4 as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy

Three siblings born to Turkish parents from the same village had normal brain development until acute neurological deterioration between 12 months and 8 years of age. Consequent loss of all acquired motor, social, and language functionsfollowing infections was associated with a pontine cyst, calcification, and cerebellar atrophy. Exome sequencing revealed a homozygous c.1297G>A (p.Gly433Ser) alteration in BEND4, which was predicted to be deleterious in in silico analysistools and segregated in multiple affected individuals in the family. BEND4 has not been associated with any existing disease. Immunofluorescence microscopy analysis of wildtype and mutant BEND4 expressing Vero cells showed nuclearand cytoplasmic localization. Wild-type BEND4 displayed a network-like distribution, whereas mutant BEND4 showed a juxtanuclear distribution pattern. Differential proteome analysis of Vero cells expressing BEND4 revealed that mutantBEND4 expression caused selective increase in reticulocalbin- 1 and endoplasmic reticulum resident protein-29. Both proteins are associated with the endoplasmic reticulum and are primarily involved in protein processing and foldingpathways. Any defect or stress in protein folding creates stress on cells and may cause chronic damage. This is the first study showing that pathogenic BEND4 variants may lead to an infection-induced acute necrotizing encephalopathy asdemonstrated in characteristic neuroimaging findings

Pedicle morphology of the thoracic spine in preadolescent idiopathic scoliosis: magnetic resonance supported analysis

Although several studies have been reported on the adult vertebral pedicle morphology, little is known about immature thoracic pedicles in patients with idiopathic scoliosis. A total of 310 pedicles (155 vertebrae) from T1 to T12 in 10–14 years age group were analyzed with the use of magnetic resonance imaging and digital measurement program in 13 patients with right-sided thoracic idiopathic scoliosis. Each pedicle was measured in the axial and sagittal planes including transverse and sagittal pedicle width and angles, chord length, interpedicular distance and epidural space width on convex and concave sides of the curve. The smallest transverse pedicle widths were in the periapical region and the largest were in the caudal region. No statistically significant difference in transverse pedicle widths was detected between the convex and concave sides. The transverse pedicle angle measured 15.56° at T1 and decreased to 6.32° at T12. Chord length increased gradually from the cephalad part of the thoracic spine to the caudad part as the shortest length was seen at T1 convex level with a mean of 30.45 mm and the largest length was seen at T12 concave level with a mean of 41.73 mm. The width of epidural space on the concave side was significantly smaller than that on the convex side in most levels of the curve. Based on the anatomic measurements, it may be reasonable to consider thoracic pedicle screws in preadolescent idiopathic scoliosis