Saudi Journal of Kidney Diseases and Transplantation

CASE REPORT
Year
: 2011  |  Volume : 22  |  Issue : 3  |  Page : 534--537

The Wunderlich's syndrome secondary to massive bilateral angiomyolipomas associated with advanced tuberous sclerosis


Dorothy Sparks, Daniel Chase, David Thomas, Jon Arnott 
 Western Reserve Care System/Northeastern Ohio College of Medicine, Ohio, USA

Correspondence Address:
Dorothy Sparks
Department of Surgery, Western Reserve Care System/Northeastern Ohio College of Medicine, Ohio
USA

Abstract

The Wunderlich Syndrome refers to spontaneous perirenal hemorrhage often associated with underlying renal pathology. We report the case of a 23-year-old female with advanced tuberous sclerosis who presented in hypovolemic shock secondary to rupture of one of her massive bilateral angiomyolipomas (AMLs). The patient was able to be managed conservatively and subsequently retained full renal function. A review of the literature with a discussion of types of clinical presentation, diagnostic criteria, and methods of management of AMLs is included.



How to cite this article:
Sparks D, Chase D, Thomas D, Arnott J. The Wunderlich's syndrome secondary to massive bilateral angiomyolipomas associated with advanced tuberous sclerosis.Saudi J Kidney Dis Transpl 2011;22:534-537


How to cite this URL:
Sparks D, Chase D, Thomas D, Arnott J. The Wunderlich's syndrome secondary to massive bilateral angiomyolipomas associated with advanced tuberous sclerosis. Saudi J Kidney Dis Transpl [serial online] 2011 [cited 2019 Dec 11 ];22:534-537
Available from: http://www.sjkdt.org/text.asp?2011/22/3/534/80493


Full Text

 Introduction



Spontaneous perirenal hemorrhage, known as the Wunderlich Syndrome (WS), is often associated with underlying renal pathology, including angiomyolipomas (AMLs). We report the case of a 23-year-old female with tuberous sclerosis (TS) who presented with the WS secondary to a ruptured giant AML. We discuss the relationship between TS and AMLs as well as their patho-physiology, clinical presentation, and management.

 Case Report



A 23-year-old female with a known diagnosis of advanced TS presented to the emergency department with hypotension and right-sided back pain. A complete blood count revealed hemoglobin of 5.2 g/dL and mean corpuscular volume (MCV) of 60 fL, compatible with acute hemorrhage.

A computed tomography (CT) scan of the abdomen and pelvis was performed with intravenous contrast. The scan revealed massive bilateral renal AMLs with evidence of retroperi-toneal hemorrhage. The renal architecture was vastly distorted, with the right AML measuring 31 × 11 × 19 cm and the left AML measuring 14 × 8 × 4 cm ([Figure 1], [Figure 2] and [Figure 3]).{Figure 1}{Figure 2}{Figure 3}

The patient responded to fluid resuscitation and was admitted to the hospital and transfused to keep her hemoglobin greater than 8 g/dL. Urology and interventional radiology were consulted for possible arterial embolization. Fortunately, the patient remained hemodynamically stable without a decrease in hemoglobin over the next two days; thus, she was managed conservatively without further intervention.

 Discussion



TS is a rare condition that occurs in 1 in 6,000 live births. [1] Although usually autosomal dominant, TS can present as sporadic mutations associated with the genes TSC1 and TSC2 on chromosomes 9 and 16. These genes encode for hamartin and tuberin, respectively, which are necessary for the regulation of cell proliferation and differentiation. [2],[3],[4]

Clinically, TS is characterized by mental retardation and the potential to develop hamartomas in any organ system. Specific lesions associated with the disease include facial angiofibroma, sub-ependymal giant cell astrocytoma, cardiac rhabdomyomas and renal AMLs. However, TS has variable expression and may present with multi-system disease. It has been described as a protean disease due to the random distribution, number, size, and location of lesions causing varied clinical manifestations. [2] Indeed, the diagnosis is often difficult in the pediatric population due to the delayed presentation of some major and minor diagnostic criteria. For example, cardiac rhabdomyomas in TS patients present in utero and almost always spontaneously regress during infancy. [5] Likewise, some lesions, including renal AMLs, do not usually present until after the age of two years of age. [6]

Renal AMLs are benign fatty tumors arising from renal mesenchymal cells. Although frequently associated with TS, 70% of AMLs occur spontaneously in the general population. [7] AMLs associated with TS are more likely to be bilateral, multiple, and larger in size. [7],[8]

According to the classification system outlined by Harabayashi, AMLs are described as small (<4 cm), medium (4-10 cm), or large (>10 cm). [9] The largest AML recorded in the literature measured 36 × 15.5 × 18 cm and weighed 5,600 g after nephrectomy. [10] The size of an AML is directly correlated with its risk of spontaneous hemorrhage. Other risk factors for hemorrhage include multifocality and vascular abnormalities, with or without aneurysm formation. [11]

Spontaneous retroperitoneal hemorrhage from the kidney is known as the WS, named after the German physician Carl Reinhold August Wunderlich. It is often associated with underlying renal pathology, including neoplasms, polyarteritis nodosa, Bacet's disease, and renal artery aneurysms. [12] Indeed, Morgentaler et al report that tumors such as renal cell carcinoma or AMLs account for 57-73% of cases of the WS. [13]

Clinically, suspicion for the WS should be aroused by the presence of Lenk's Triad: acute flank pain, symptoms of internal bleeding and tenderness to palpation. [13] The clinical condition of the patient dictates the type of specific therapeutic intervention. Many authors argue that the WS can be managed conservatively if the hemorrhage is self-limiting and the patient is responsive to fluid resuscitation. [12],[14],[15] Others argue that selective arterial embolization is preferred because angiography is nephron sparing and can reveal vascular lesions that are not otherwise visible on CT scan. [16] For patients who are clinically unstable (i.e. in hemorrhagic shock), surgery is the definitive option. An emergent total or partial nephrectomy controls hemorrhage rapidly and can be performed with low peri-operative mortality. Unfortuntely, nephrectomies carry a high incidence of morbidity in the form of loss of renal function and complications associated with hemodialysis. [15],[17]

 Conclusion



The WS refers to spontaneous perirenal hemorrhage often due to inherent renal pathology. The most common cause of this condition is neoplasia, especially renal cell carcinoma and AMLs. Although AMLs can arise spontaneously, they are often associated with TS. AMLs that are associated with TS are more likely to be larger and more prone to spontaneous retroperitoneal hemorrhage. AMLs presenting with the WS may be managed conservatively if the hemorrhage is self-limiting, but selective arterial embolization and even nephrectomy may be necessary in cases of continued hemodynamic instability. Because of this, a high level of suspicion should be mainained in any patient with TS who presents with flank pain and hypotension.

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