Journal of Pathology and Translational Medicine

Original Article

Beckwith-Wiedemann Syndrome with Unusual Sialoadenomegaly.: Hye Seung Han, Seung Sook Lee, Suk Keun Lee, Je G Chi; Korean J Pathol. 1996;30(10):939-942.

Abstract PDF: Beckwith-Wiedemann syndrome is a rare clinical entity characterized by exomphalos, macroglossia, macrosomia, and renal hyperplasia/dysplasia. Although its entity is established, its etiology and obligatory features have not been settled. We report an autopsy case with the unusual involvement of the salivary gland. This infant was born to a 37-year-old mother as a normal full-term spontaneous delivery. At 11 days of age she developed with purulent eye discharge and weak sucking, and died suddenly. At autopsy the baby weighed 2,630 gm and the head circumference was 35 cm. She showed thick and prominent skin folds, bilateral aural fissures, macroglossia, hepatomegaly, cardiomegaly, dysmorphic kidneys, and nesidioblastosis. Both kidneys showed dysplastic tubules and hyperplastic cortical tissue enclosing the medulla. In this case there were characteristic findings in major and minor salivary glands with both acinar and ductal hyperplasia, and hypertrophy of mammary glands. Besides, she had generalized depletion of subcutaneous fat, immature buccal fat, patent ductus arteriosus, hyperlobation of the right lung, two accessory spleens, and hyperplasia of basophils and chromophobes in the pituitary gland. The lungs showed diffuse interstitial pneumonia and multiple fibrin thrombi. There were no adrenal cytomegaly, umbilical hernia and exophthalmos.

Case Reports

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Report of an autopsy case.: Tae Yub Kim, Young Min Kim, Jae Gul Chung, Gyung Yub Gong, Su Kil Park, In Chul Lee, Joo Ryung Huh; Korean J Pathol. 1997;31(11):1233-1236.

Abstract: A 35-year-old man was admitted with a 20 day history of generalized edema and muscular weakness of the lower extremities. He was alert with a pale puffy face and an ejection murmur was heard at the cardiac apex. The electrocardiogram disclosed low voltage, first degree atrioventricular block, and a right bundle branch block. During the hospitalization an intractable diastolic hypotension developed, which measured 0 mmHg at the lowest point. At that time the echocardiogram revealed a dilated, akinetic right ventricle. Eventually a multiorgan failure developed and an autopsy following his death presented a fibrofatty replacement of the right ventricular myocardium. This might be a case of an arrhythmogenic right ventricular dysplasia/cardiomyopathy, which is usually characterized clinically by a ventricular tachycardia and may cause a sudden death in young adults.

Lhermitte-Duclos Disease in a Sudden Death: An autopsy case.: Tae Jung Kwon, Tae Seung Kim, Han Young Lee, Shin Mong Kang; Korean J Pathol. 1994;28(1):73-78.

Abstract PDF: Lhermitte-Duclos disease of the cerebellum manifests itself as a slowly growing mass formed by abnormal neurons that appear more malformative than tumoral. Although most cases show satisfactory clinical evolution, several cases, not recognized in life, died abruptly, usually from respiratory arrest. We recently experienced a 19 year old male, who died suddenly during alcohol drinking. At autopsy, the cerebellum revealed thickening of the folia over two limited areas. Microscopically, the lesion was characterized by proliferation of abnormal neuronal cells with excessive myelination of their axons, disappearance of Purkinie cells and greatly reduced white mater. Theories regarding the pathogenesis of Lhermitte-Duclos disease were reviewed and discussed.

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