Adrenomegaly and septic adrenal hemorrhage (Waterhouse-Friderichsen syndrome) in the setting of congenital adrenal hyperplasia

Abstract

Congenital adrenal hyperplasia refers to a spectrum of autosomal recessive inherited disorders of steroidogenesis most commonly identified on newborn screenings. We describe a young woman who presented with abdominal pain and on subsequent imaging was found to have features of congenital adrenal hyperplasia. Imaging findings, treatment, and potential complications are discussed.

CASE DESCRIPTION

A 35-year-old African American woman with known hypertension presented to the Baylor University Medical Center at Dallas emergency department with abdominal pain. Computed tomography (CT) of the abdomen and pelvis revealed sigmoid diverticulitis with contained perforation and marked bilateral adrenal gland enlargement (Figure 1, arrows). The patient underwent partial colectomy with Hartmann pouch reconstruction and did well postoperatively. The marked adrenomegaly seen on CT was initially thought to represent an infiltrative neoplasm such as lymphoma or possibly marked adrenal hyperplasia. From her medical records we discovered that she had 11b-hydroxylase deficiency as the likely explanation for her marked bilateral adrenomegaly. Subsequently the colostomy was taken down and 1 week later she developed sepsis with acute renal and hepatic failure. Repeat CT of the abdomen and pelvis revealed a large retroperitoneal hematoma in the location of the patient's previously seen markedly enlarged right adrenal gland (Figure 2, arrows). She eventually recovered hepatic and renal function and was discharged home.

Figure 1.

Severe adrenomegaly (arrows) is seen on noncontrast CT. L indicates liver; P, pancreas; S, stomach; A, aorta; I, inferior vena cava; PV, portal vein.

Figure 2.

Large right retroperitoneal hematoma (arrow) which measured up to 15.9 × 12.3 cm is present in the area of the previously seen enlarged right adrenal gland. There is no evidence of contralateral hemorrhage (arrowhead).

DISCUSSION

Congenital adrenal hyperplasia (CAH) is caused by deficiency in various enzymes responsible for steroidogenesis. 21-hydroxylase deficiency is seen in most CAH patients, while 11b-hydroxylase deficiency is seen in only 5% of CAH patients. Patients with 11-hydroxylase CAH have glucocorticoid deficiency requiring lifelong supplementation, 11b-deoxycorticosterone excess resulting in hypertension, and potential virilization in women.

Imaging in children with CAH has mainly entailed ultrasound evaluation, with the presence of markedly enlarged adrenal glands often associated with the diagnosis of CAH. Scott et al described correlation of adrenal size with gestational age, with subsequent authors demonstrating adrenal gland size in CAH infants above the 95th percentile (8, 10). Esser and Chaoui (2) described the evaluation of fetal adrenal gland size on prenatal ultrasound in the late first or second trimesters with findings of bilateral adrenal enlargement in two cases of infants subsequently shown to have CAH. Additional findings supporting a diagnosis of CAH on ultrasound evaluation include ambiguous genitalia and a cerebriform pattern of gyri and sulci within the gland cortex, described by both Chambrier and colleagues (8) and Avni et al (9), and also seen on histopathologic analysis in CAH. Harinarayana et al (1) evaluated six children with untreated CAH using CT: three had diffuse bilateral enlargement with preservation of adreniform shape; two had nodular/tumorous transformation of a unilateral adrenal gland with loss of adreniform shape and histopathologic analysis compatible with hyperplasia; and the final patient showed equivocal enlargement.

Adrenal hemorrhage is an uncommon complication seen in a variety of conditions: trauma, stress, hemorrhagic diathesis or coagulopathy, underlying adrenal tumors, and idiopathic disease (5–7). The clinical danger entailed in bilateral adrenal hemorrhage is acute adrenal insufficiency in the setting of severe illness, which can lead to rapid cardiovascular collapse and death (6). The incidence of hemorrhage in the setting of CAH is unknown.

It has been established that accurate clinical history results in more accurate CT interpretation (11). This case nicely illustrates the need for accurate clinical information and comparison of relevant prior examinations to guide appropriate patient management. Without such integration in this case, the patient may have undergone an unnecessary costly biopsy and its associated risks to exclude the possibility of lymphoma, as initially questioned on CT scan.