SESSION TITLE: Miscellaneous Cases V
SESSION TYPE: Medical Student/Resident Case Report
PRESENTED ON: Tuesday, October 29, 2013 at 07:30 AM - 09:00 AM
INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is a late-onset multisystem disorder characterized by bilateral renal cysts, cysts in other visceral organs, vascular abnormalities, mitral valve prolapse and abdominal wall hernias. Involvement of thoracic spine is extremely rare. We report a case of ADPKD with multiple meningeal cysts of the thoracic spine.
CASE PRESENTATION: A 38-year-old Caucasian male with a history of ADPKD for 17 years and recent hypertension presented to the clinic for flank pain. He denied headache, chest pain, back pain, history of trauma or infection of the spine. Physical examination was normal. Basic metabolic profile showed serum creatinine 1.5 mg/dL, otherwise normal. An abdomen CT scan showed renal stones and pleural masses. Subsequently, a chest CT scan revealed multiple smooth, non-calcified paraspinal masses in both thoraces along the posterior medial aspects from vertebral body T4 through T10 (Fig. 1). A chest MRI revealed multiple homogenous paraspinal masses throughout the region of thoracic spine bilaterally (Fig. 2). The signal content was similar to the signal of cerebrospinal fluid on T2-weighted MRI, consistent with thoracic meningeal cysts. Positron emission tomography with 18F-fluorodeoxyglucose and 99mTc-sulfur colloid scan were normal. Repeat chest CT scan after 6 months showed no change of the thoracic meningeal cysts.
DISCUSSION: ADPKD is a common disease with several known extrarenal manifestations. However, the spine is rarely involved. Thus far in the literature, multiple thoracic meningeal cysts have been described in only two patients with ADPKD 1; 2. To our knowledge, the current case represents the youngest reported case of ADPKD with multiple thoracic meningeal cysts. Although the exact mechanism for the development of ADPKD is unclear, it is believed to be due to the abnormality of PKD1 and PKD2 gene products, polycystin-1 and polycystin-2, which are involved in adhesive protein-protein, cell-cell, cell matrix interactions and cell calcium signaling. Abnormality in PKD1 or PKD2 might interfere with spinal meninges at ultrastructure level and cause cysts.
CONCLUSIONS: Our case highlights the importance of maintaining a high index of suspicion for spinal meningeal cysts in patients with long-standing ADPKD. Thoracic meningeal cysts should be considered in the differential diagnosis of paraspinal masses in patients with ADPKD.
Reference #1: Schievink WI, Torres VE. Spinal meningeal diverticula in autosomal dominant polycystic kidney disease. Lancet 1997 Apr 26;349(9060):1223-4.
Reference #2: Coche E, Persu A, Cosnard G, Quoidbach A, Pirson Y. Multiple thoracic paraspinal meningeal cysts in autosomal dominant polycystic kidney disease. Am J Kidney Dis 2003 Feb;41(2):E8.
DISCLOSURE: The following authors have nothing to disclose: Huimin Wu, Terrence Fagan
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