Tuberous sclerosis diagnosed by incidental computed tomography findings of multifocal micronodular pneumocyte hyperplasia: a case report

Journal of Medical Case Reports

Tomoko Betsuyaku²  Koichi Sayama²  Kenzo Soejima²  Sadatomo Tasaka²  Katsuhiko Naoki²  Hiroaki Sugiura³  Mizuha Haraguchi²  Daisuke Arai²  Yuichiro Hayashi¹  Nobufumi Kamiishi²  Koichiro Asano²  Makoto Ishii² 

[1] Department of Pathology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan;Division of Pulmonary Medicine, Department of Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan;Department of Diagnostic Radiology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan

关键词: Tuberous sclerosis.;    Multifocal micronodular pneumocyte hyperplasia (MMPH);    Computed tomography (CT);   

Others  :  1195339
DOI  :  10.1186/1752-1947-6-352

 received in 2012-07-28, accepted in 2012-09-20,  发布年份 2012

【 摘 要 】

Introduction

The majority of multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis complex is diagnosed with the classical clinical triad of seizures, mental retardation, and skin lesions. We report a rare case of tuberous sclerosis complex with no classical clinical findings, which was diagnosed through incidental computed tomography findings of multiple nodular lesions of multifocal micronodular pneumocyte hyperplasia.

Case presentation

A chest computed tomography scan of a 51-year-old Japanese woman showed multiple nodular ground-glass opacities that were not seen on chest X-ray. Video-assisted thoracoscopic surgery was performed. A histological examination demonstrated type II pneumocyte hyperplasia with thickened fibrotic alveolar septa, which was consistent with multifocal micronodular pneumocyte hyperplasia. Brain magnetic resonance imaging displayed multiple cortical tubers, and abdominal computed tomography showed bilateral renal angiomyolipoma. Our patient was finally diagnosed as having tuberous sclerosis complex with multifocal micronodular pneumocyte hyperplasia, although she had no episodes of epilepsy, no skin lesions, and no family history.

Conclusions

Multifocal micronodular pneumocyte hyperplasia with latent tuberous sclerosis complex should be considered in the differential diagnosis of multiple ground-glass opacities.

【 授权许可】

   
2012 Ishii et al.; licensee BioMed Central Ltd.

【 图 表 】

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【 参考文献 】

• [1]Bourneville D: Sclerose tubereuse des circonvolutions cerebrales: idiotie et epilepsie hemiplegique. Arch Neurol (Paris) 1880, 1:81-91.
• [2]Crino PB, Nathanson KL, Henske EP: The tuberous sclerosis complex. N Engl J Med 2006, 355:1345-1356.
• [3]Castro M, Shepherd CW, Gomez MR, Lie JT, Ryu JH: Pulmonary tuberous sclerosis. Chest 1995, 107:189-195.
• [4]Franz DN, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, Sethuraman G, Colby TV, Kwiatkowski DJ, McCormack FX: Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med 2001, 164:661-668.
• [5]Muir TE, Leslie KO, Popper H, Kitaichi M, Gagne E, Emelin JK, Vinters HV, Colby TV: Micronodular pneumocyte hyperplasia. Am J Surg Pathol 1998, 22:465-472.
• [6]Cancellieri A, Poletti V, Corrin B: Respiratory failure due to micronodular type II pneumocyte hyperplasia. Histopathology 2002, 41:263-265.
• [7]Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K: Pictorial review of tuberous sclerosis in various organs. Radiographics 2008, 28:e32.
• [8]Roach ES, Gomez MR, Northrup H: Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998, 13:624-628.
• [9]Vogt H: Zur Diagnostik der tuberosen sklerose. Z Erforsch Behandl Jugeudl Schwachsinns 1908, 2:1-16.
• [10]Curatolo P, Verdecchia M, Bombardieri R: Tuberous sclerosis complex: a review of neurological aspects. Eur J Paediatr Neurol 2002, 6:15-23.
• [11]Thiele EA: Managing epilepsy in tuberous sclerosis complex. J Child Neurol 2004, 19:680-686.
• [12]Schwartz RA, Fernandez G, Kotulska K, Jozwiak S: Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol 2007, 57:189-202.
• [13]Rose VM, Au KS, Pollom G, Roach ES, Prashner HR, Northrup H: Germ-line mosaicism in tuberous sclerosis: how common? Am J Hum Genet 1999, 64:986-992.
• [14]McCormack FX: Lymphangioleiomyomatosis: a clinical update. Chest 2008, 133:507-516.
• [15]Kobashi Y, Sugiu T, Mouri K, Irei T, Nakata M, Oka M: Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis: differentiation from multiple atypical adenomatous hyperplasia. Jpn J Clin Oncol 2008, 38:451-454.