Journal of the Louisiana State Medical Society
P athology I mage of the M onth Autopsy Findings in an Adult with Down Syndrome
Ellen E. Connor, MD, PhD; Ally Darga; Robin R. McGoey, MD
Emergencymedical responders were activated to the home of a 59-year-old African-Americanmale in distress andwith knownDown syndrome complicated by Alzheimer’s disease. He was found to be unresponsive and subsequently became pulseless. Advanced cardiac life support protocols were initiated and continued for two hours in the emergency department. Due to family request, efforts were eventually ceased and the patient was declared dead. Full, unrestricted autopsy examination was conducted under the coroner’s authorization. The cause of death was determined to be a pulmonary thromboembolus in the main pulmonary artery with extension into the bilateral pulmonary arteries. Additional external findings included alopecia universalis, penoscrotal hypospadias, ostium secundum type of atrial septal defect, right ventricular cardiac dilatation, diffuse cerebral atrophy, facial features compatible with Down syndrome, and generalized patches of skin depigmentation over the hands as seen in Figure 1 but also over the feet, lips, areola, and trunk. Microscopic findings included features of pulmonary hypertension. A microscopic image from a section of the thyroid is seen in Figure 2.
What two additional co-morbid conditions can be diagnosed from these images?
Figure 1: (left) External image of the right hand at autopsy showing broad areas of depigmentation. Additional areas of similar depigmentation were seen over the lips, areola, trunk, and both feet. Furthermore, there was no scalp hair, facial, axillary, chest, genital region, or extremity hair. Eyebrows and eyelashes were absent.
Figure 2: (right) Histologic section taken from thyroid at autopsy demonstrating marked glandular infiltration by lymphocytes forming lymphoid follicles containing germinal centers. Thyroid follicles are reduced in number and size, and colloid is depleted. Thyroid follicular epithelium has undergone oxophilic (Hurthaloid) change characterized by an increased size and abundant granular, eosinophilic cytoplasm (40x, Hematoxylin and Eosin stain).
272 J La State Med Soc VOL 166 November/December 2014
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