Newborn with an Underrecognized Triad: Skin Lesion, Abdominal Distention, and Hypothyroidism
T
he patient was a nearly 3-week-old Caucasian female born at 37 weeks gestation by spontaneous vaginal delivery. Pregnancy was complicated by toxemia. At birth, cutaneous hemangiomas were noted. The lesions enlarged progressively, and the infant presented to the emergency department with progressive abdominal distension at 17 days of age. Abdominal ultrasound and computed tomography scan revealed hepatomegaly with hypervascular masses (Figure). In the pediatric intensive care unit, she developed abdominal compartment syndrome, and was also found to have severe hypothyroidism. She was managed with propranolol, high-dose levothyroxine, steroids, emergent decompressive fasciotomy, and other supportive measures. Despite treatment, disseminated intravascular coagulation
and multiorgan failure ensued, and the infant eventually succumbed to the disease within 4 days. An autopsy examination showed an female infant with multiple well circumscribed, dark-purple cutaneous lesions on the face, scalp, torso, and extremities. She had an enlarged liver (413 g; expected weight, 123 g) occupying almost the entire abdominal cavity, containing multiple large, soft, dark-red lesions measuring up to several centimeters in diameter and displacing almost the entire liver (Figure). Similar lesions were present in both adrenal glands as well. Microscopically, these lesions consisted of irregular, wellformed anastomosing vascular channels lined with a single row of plump endothelial cells characteristic of infantile hemangioma. Immunohistochemically, the lesions were
Figure. A, Ultrasound study demonstrating multiple heterogeneous lobulated hepatic masses. B, Computed tomography scan showing marked homogeneous low-density enlargement of the liver (11.2 9.1 10.5 cm) occupying almost the entire abdominal cavity. C, Autopsy picture showing residual hemangiomas involving the skin of the abdomen and the left leg. D, Striking picture from autopsy showing multiple large, soft, and dark-red lesions displacing the entire liver. E, Microscopic examination of hepatic infantile hemangioma featuring ill-formed anastomosing vascular channels with entrapped bile ducts (arrows). F, Immunohistochemical confirmation with positive GLUT1 stain in lesion.
J Pediatr 2014;164:419-20. 0022-3476/$ - see front matter. Copyright ª 2014 Mosby Inc. All rights reserved. http://dx.doi.org/10.1016/j.jpeds.2013.09.039
419
THE JOURNAL OF PEDIATRICS
www.jpeds.com
remarkable for strong CD34 and GLUT1 staining (Figure). The final diagnosis was hepatic infantile hemangioma, diffuse type. In rare cases, infantile hemangiomas can have systemic involvement, with grim consequences.1 It is often accompanied by abdominal compartment syndrome and severe hypothyroidism caused by type 3 iodothyronine deiodinase secretion by the tumor.2 This triad of hemangioma, abdominal distention, and hypothyroidism is currently underrecognized. The recommended clinical algorithm calls for steroids and very-high-dose levothyroxine for management, and preparation for organ transplantation in the event of continued deterioration.3 n Jihong Sun, MD Department of Pathology and Laboratory Medicine
Boaz Karmazyn, MD Department of Pediatric Radiology
420
Vol. 164, No. 2 Jingmei Lin, MD Philip R. Faught, MD Rong Fan, MD Romil Saxena, MD Department of Pathology and Laboratory Medicine Indiana University School of Medicine Indianapolis, Indiana
References 1. Mulliken JB, Fishman SJ, Burrows PE. Vascular anomalies. Curr Probl Surg 2000;37:517-84. 2. Huang SA, Tu HM, Harney JW, Venihaki M, Butte AJ, Kozakewich HP, et al. Severe hypothyroidism caused by type 3 iodothyronine deiodinase in infantile hemangiomas. N Engl J Med 2000;343:185-9. 3. Christison-Lagay ER, Burrows PE, Alomari A, Dubois J, Kozakewich HP, Lane TS, et al. Hepatic hemangiomas: subtype classification and development of a clinical practice algorithm and registry. J Pediatr Surg 2007;42: 62-7.
Sun et al
T
he patient was a nearly 3-week-old Caucasian female born at 37 weeks gestation by spontaneous vaginal delivery. Pregnancy was complicated by toxemia. At birth, cutaneous hemangiomas were noted. The lesions enlarged progressively, and the infant presented to the emergency department with progressive abdominal distension at 17 days of age. Abdominal ultrasound and computed tomography scan revealed hepatomegaly with hypervascular masses (Figure). In the pediatric intensive care unit, she developed abdominal compartment syndrome, and was also found to have severe hypothyroidism. She was managed with propranolol, high-dose levothyroxine, steroids, emergent decompressive fasciotomy, and other supportive measures. Despite treatment, disseminated intravascular coagulation
and multiorgan failure ensued, and the infant eventually succumbed to the disease within 4 days. An autopsy examination showed an female infant with multiple well circumscribed, dark-purple cutaneous lesions on the face, scalp, torso, and extremities. She had an enlarged liver (413 g; expected weight, 123 g) occupying almost the entire abdominal cavity, containing multiple large, soft, dark-red lesions measuring up to several centimeters in diameter and displacing almost the entire liver (Figure). Similar lesions were present in both adrenal glands as well. Microscopically, these lesions consisted of irregular, wellformed anastomosing vascular channels lined with a single row of plump endothelial cells characteristic of infantile hemangioma. Immunohistochemically, the lesions were
Figure. A, Ultrasound study demonstrating multiple heterogeneous lobulated hepatic masses. B, Computed tomography scan showing marked homogeneous low-density enlargement of the liver (11.2 9.1 10.5 cm) occupying almost the entire abdominal cavity. C, Autopsy picture showing residual hemangiomas involving the skin of the abdomen and the left leg. D, Striking picture from autopsy showing multiple large, soft, and dark-red lesions displacing the entire liver. E, Microscopic examination of hepatic infantile hemangioma featuring ill-formed anastomosing vascular channels with entrapped bile ducts (arrows). F, Immunohistochemical confirmation with positive GLUT1 stain in lesion.
J Pediatr 2014;164:419-20. 0022-3476/$ - see front matter. Copyright ª 2014 Mosby Inc. All rights reserved. http://dx.doi.org/10.1016/j.jpeds.2013.09.039
419
THE JOURNAL OF PEDIATRICS
www.jpeds.com
remarkable for strong CD34 and GLUT1 staining (Figure). The final diagnosis was hepatic infantile hemangioma, diffuse type. In rare cases, infantile hemangiomas can have systemic involvement, with grim consequences.1 It is often accompanied by abdominal compartment syndrome and severe hypothyroidism caused by type 3 iodothyronine deiodinase secretion by the tumor.2 This triad of hemangioma, abdominal distention, and hypothyroidism is currently underrecognized. The recommended clinical algorithm calls for steroids and very-high-dose levothyroxine for management, and preparation for organ transplantation in the event of continued deterioration.3 n Jihong Sun, MD Department of Pathology and Laboratory Medicine
Boaz Karmazyn, MD Department of Pediatric Radiology
420
Vol. 164, No. 2 Jingmei Lin, MD Philip R. Faught, MD Rong Fan, MD Romil Saxena, MD Department of Pathology and Laboratory Medicine Indiana University School of Medicine Indianapolis, Indiana
References 1. Mulliken JB, Fishman SJ, Burrows PE. Vascular anomalies. Curr Probl Surg 2000;37:517-84. 2. Huang SA, Tu HM, Harney JW, Venihaki M, Butte AJ, Kozakewich HP, et al. Severe hypothyroidism caused by type 3 iodothyronine deiodinase in infantile hemangiomas. N Engl J Med 2000;343:185-9. 3. Christison-Lagay ER, Burrows PE, Alomari A, Dubois J, Kozakewich HP, Lane TS, et al. Hepatic hemangiomas: subtype classification and development of a clinical practice algorithm and registry. J Pediatr Surg 2007;42: 62-7.
Sun et al
