Patient: Male, 11Final Diagnosis: Haberland syndromeSymptoms: SeizureMedication: —Clinical Procedure: Medical treatmentSpecialty: NeurosurgeryObjective:Rare diseaseBackground:Encephalocraniocutaneous lipomatosis (ECCL) was first announced as a new type of ectomesodermal dysgenesis in 1970 by Haberland and Perou. ECCL was first described in 1970, and approximately 60 cases have been reported since then. The classic triad of ECCL are skin, ocular, and central nervous system involvement, including conditions such as unilateral porencephalic cyst, ipsilateral lipomatous hamartoma of the scalp-eyelids-eye globe, cortical atrophy, cranial asymmetry, developmental delay, seizures, mental retardation, and spasticity of the contralateral limbs. The dermatological hallmark is a hairless fatty tissue nevus of the scalp called nevus psiloliparus.Case Report:An 11-year-old right-handed boy, born at full term, was referred to our clinic. His family had no consanguinity or history of neurocutaneous disease. The patient’s physical examination revealed a large hairless lesion on the right frontoparietal scalp called nevus psiloliparus. Beginning from the birth, a dermolipoma (an uncommon benign tumor) was reported to have occurred on the conjunctiva, mostly ipsilateral in his right eye and present on the ipsilateral side of the neurological abnormalities shown on magnetic resonance imaging and computed tomography. The patient had muscle weakness in left upper and lower extremities. He had a mild form of mental retardation.Conclusions:There is no specific treatment for ECCL. Management of ECCL is usually symptomatic. Surgical correction of a cutaneous lesion can be performed for cosmetic improvement. An early diagnosis of ECCL allows for early symptom treatment and improved patient quality of life.
ntroduction and aim. We aimed to assess the usefulness of diffusion weighted imaging (DWI) and apparent diffusion coefficients (ADCs) for characterizing renal masses. Material and method. In this retrospective study we measured the ADC values of renal masses at b=0, b=500 and b=1000. Measurements were made by placing a circular region of interest with a diameter of 1 cm.ADC values from normal renal parenchyma were taken to define the ADC and to compare with the ADC values of the lesions. Results. A total of 72 lesions of 54 patients were included.40 of the masses were benign and 32 were malignant. The ADC values of benign lesions at both b values were significantly higher than malignant lesions. We found the lowest values in angiomyolipomas (AMLs) and oncocytomas and the highest values in Bosniac type I cysts. Similarities was found between the ADC values of some AMLs and the RCCs. In terms of statistical results, the inclusion of AMLs in the analysis did not significantly affect the difference between malignant and benign lesions. Conclusion. In our study, the ADC values of benign renal masses were higher than those of normal renal parenchyme, which is higher than those of malignant renal masses.The lowest ADC values were observed in AMLs and oncocytomas.
Introduction and aim. We aimed to evaluate the usefulness of dynamic contrast-enhanced (DCE) MRI semiquantitative analysis values in focal liver lesions (FLL) to provide additional qualities that can be used in daily practice in the differential diagnosis of lesions. Material and methods. This retrospective study included 91 patients with liver masses on DCE-MRI. The sensitivity and specificity of time intensity curves (TIC) and semiquantitative analysis values were evaluated to differentiate benign and malignant lesions. Results. The study included 91 patients (376 lesions), aged between 28-81 years. Of the lesions, 303 were malignant and 73 were benign. In TIC semiquantitative analysis, it was found that “Tpeak” and “wash-out” rate values showed differences, especially in the differentiation of HCC, metastasis, and hemangioma. Area under curve, maximum relative enhancement, and “wash-in” and “wash-out” values of metastases and hemangiomas were different. Brevity of enhancement values of HSK, hemangiomas, and metastases were found to be different. The risk of malignancy was found to be high when the “wash-out” ratio was above 0.08 (sensitivity: 64.3%, specificity: 70.4%). Conclusion. We think that the 0.08 threshold value we found for the washout ratio with DCE-MRI semiquantitative analysis data will be useful in daily practice in the differentiation of malignant and benign FLL.
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