Bilateral cystic adrenal masses in the neonate associated with the incomplete form of Beckwith-Wiedemann syndrome.
ABSTRACT We report a case of bilateral multilocular cystic adrenal masses in a neonate who demonstrated somatic hypertrophy and macroglossia, which are considered to constitute an incomplete form of Beckwith-Wiedemann syndrome (BWS). After surgical removal of the masses, histological study revealed benign hemorrhagic macrocysts with cortical cytomegaly. There was no evidence of tumor or adrenal apoplexia. Although very rare, association of unilateral hemorrhagic adrenal macrocysts with BWS has been reported before; this is the first case of bilateral benign adrenal macrocysts associated with BWS.
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ABSTRACT: Adrenocortical cytomegaly (AC) is a relatively uncommon phenomenon but tends to occur in certain situations, including specific congenital anomalies and hydrops due to maternal-fetal Rhesus incompatibility. Because the pathology in the latter condition does not differ greatly from hemoglobin (Hb) Bart hydrops fetalis, we performed a retrospective review of fetal and perinatal autopsy cases with Hb Bart to determine the prevalence of AC in that condition. Over a 10-year period (2001-2010) at King Chulalongkorn Memorial Hospital, there were 16 hydropic cases confirmed to have Hb Bart. Adrenocortical cytomegaly was found in 13 cases (81%). For comparison, we determined the occurrence of AC in cases of hydrops fetalis not due to Hb Bart (n = 33) and a heterogeneous group of congenital anomalies (n = 34). Adrenocortical cytomegaly was identified in only 1 case of Beckwith-Wiedemann syndrome and 2 cases of anencephaly. Thus, AC is a common finding in cases of Hb Bart, a finding not previously documented. Moreover, our study suggests that Hb Bart is one of the conditions most commonly associated with AC. The reasons for this are not known. The mean Hb levels for the hydrops cases with Hb Bart and those with other forms of anemia showed no significant difference (P = 0.63), nor was there any significant difference in Hb levels between cases of Hb Bart with and without AC. Nonetheless, the consistency of AC in cases of Hb Bart suggests that further study of this particular group of patients might shed light on the pathogenesis of this poorly understood pathologic finding.Pediatric and Developmental Pathology 01/2012; 15(3):187-91. · 0.86 Impact Factor
Article: Adrenal Pseudocysts[Show abstract] [Hide abstract]
ABSTRACT: Adrenal masses, particularly clinically unapparent ones, are being detected with increasing frequency due to the widespread use of sophisticated imaging techniques performed for conditions that are not related to adrenal diseases. The radiographic finding of a cystic adrenal gland usually leads to an adrenal biopsy or resection. The pathologist must distinguish between benign cysts and cystic presentations of primary adrenal tumors. This review focuses on morphology, pathogenesis, and ancillary testing results of cystic masses of the adrenal gland and also discusses their pathologic differential diagnosis.Pathology Case Reviews 08/2005; 10(5):263-268.
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ABSTRACT: Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders in which the main characteristic is that either weight, height, or head circumference is 2-3 standard deviations (SD) above the mean for sex and age. A striking feature of OGS is the risk of neoplasms. Here, the relative frequency of specific tumors in each OGS, topographic location, and age of appearance is determined by reviewing published cases. In some OGS (Perlman, Beckwith-Wiedemann, and Simpson-Golabi-Behmel syndromes and hemihyperplasia) more than 94% of tumors appeared in the abdomen usually before 10 years of age, mainly embryonal in type. In Perlman syndrome, only Wilms tumor has been recorded, whereas in Sotos syndrome, lympho-hematologic tumors are most frequent. Based on literature review, a specific schedule protocol for tumor screening is suggested for each OGS. A schedule with different intervals and specific tests is proposed for a more rational cost/benefit program for these disorders.American Journal of Medical Genetics Part C Seminars in Medical Genetics 09/2005; 137C(1):53-71. · 4.44 Impact Factor