Prenatally Detected Cystic Adrenal Mass Associated with Beckwith-Wiedemann Syndrome

Merrot, Thierry; Walz, Jochen; Anastasescu, Robert; Chaumoître, Kathia; D’ercole, C.

doi:10.1159/000080155

Cited by 21 publications

(10 citation statements)

References 35 publications

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“…Literature review reveals a significant variation in the type of adrenal mass detected in BWS (Table ) . We subcategorized these masses into the three most commonly reported adrenal findings: adrenal hyperplasia and cysts, adrenal adenoma, and neuroendocrine tumors; we also report other masses and tumors such as adrenal calcification and adrenal carcinoma.…”

Section: Resultsmentioning

confidence: 99%

Management of adrenal masses in patients with Beckwith–Wiedemann syndrome

MacFarland

Mostoufi‐Moab

Zelley

et al. 2017

Pediatric Blood & Cancer

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Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth and cancer predisposition syndrome, associated with both benign and malignant adrenal findings. Literature review and an institutional case series elucidate the wide spectrum of adrenal findings in BWS patients. The altered expression of the 11p15 region is likely related to adrenal gland hyperplasia and growth dysregulation. Given the absence of guidelines for managing adrenal findings in BWS, we propose a systematic approach to adrenal findings in BWS patients, to allow for maximum detection of potentially malignant pathology without posing additional risk to patients.

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Section: Resultsmentioning

confidence: 99%

Management of adrenal masses in patients with Beckwith–Wiedemann syndrome

MacFarland

Mostoufi‐Moab

Zelley

et al. 2017

Pediatric Blood & Cancer

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“…Possibility of the diagnosis of congenital adrenal teratomas should also be borne in mind when examining neonates 14 , as well as a congenital adrenal cystic neuroblastoma 16 . There was even a unique case of a prenatally detected cystic adrenal mass associated with Beckwith-Wiedemann Syndrome 19 . There was no case report of a haemorrhagic suprarenal cysts presenting with predominantly respiratory symptoms of cough and shortness of breath in the literature, as our patient had.…”

Section: Literature Reviewmentioning

confidence: 99%

Haemorrhagic suprarenal pseudocysts: a systematic review of a rare condition from family physicians’ perspective during the COVID-19 global pandemic

Olowu¹,

Alzehairy²

2021

J Endocrinol Sci

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Adrenal cysts are rare lesions that could be epithelial, endothelial, parasitic or haemorrhagic[1], as well as pseudocysts. Haemorrhagic adrenal cysts are extremely rare and are often asymptomatic, so diagnosis can be really challenging. This can prove really difficult for primary care physicians who are often the frontline clinicians these patients tend to present to. They are usually benign lesions and do not often cause mortality if detected early and prompt surgery is done, as was the case with the patient in our case report[4]. When they do become symptomatic, they can present with different systemic symptoms as documented in literature, including in our case report[2,4]. Diagnosis is usually through Ultrasound and CT Scan and management is largely laparoscopic or open excision depending on the size of the lesion, surgical expertise and local protocol. Most patients make full recovery and mortality is extremely low [3]. The aim of this review is to provide a broader overview of the subject, highlight salient points in several studies relating to haemorrhagic cysts, provide an up to date follow up information on the index patient in our case report and to explore possible areas for future study [4,6]. This review also includes a suggested management algorithm and intends to emphasize the fact that patients who present in primary, urgent or emergency care settings with persistent non-specific symptoms should be investigated for rare diseases.

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“…This is the first report of pheochromocytoma in an individual who was noted to have had congenital adrenal cysts in one of these entities. Outcomes in 17 individuals with clinical diagnoses of BWS or IH have previously been described, in whom adrenal cysts were surgically removed in the neonatal period for 11 cases [McCauley et al, ; Walton et al, ; Akata et al, ; Merrot et al, ; Taide et al, ], with conservative management of the remaining six individuals [Ciftci et al, ; Zenker et al, ; Anoop and Anjay, ; Rahmah et al, ; Gocmen et al, ; Teh and Ong, ], Table SI. A contralateral adrenal adenoma developed at 8 months of age in one individual [McCauley et al, ] but no other adrenal pathology was reported at follow up.…”

Section: To the Editormentioning

confidence: 99%