Abstract

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

Highlights

  • 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

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

  • Here, we describe a rare case of Tuberous sclerosis complex (TSC) with no classical clinical findings of mental retardation, seizures, and facial angiofibroma, which was diagnosed through incidental computed tomography (CT) findings of multiple nodular lesions of multifocal micronodular pneumocyte hyperplasia (MMPH)

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Summary

Conclusions

We report a rare case of MMPH associated with TSC without the classical clinical triad of seizures, mental retardation and skin lesions. Since MMPH is generally asymptomatic, and it is often difficult to detect multiple GGOs of MMPH lesions on chest X-rays, and since MMPH is generally suspected when the patient is diagnosed as having TSC with the classical triad, it appears that the incidence of TSC may be underestimated without such symptoms. TSC should be suspected when the patient has multiple nodular GGOs. MMPH should be carefully distinguished from AAH or AIS even when the patient has no history of epilepsy or skin lesions or a family history. Consent Written informed consent was obtained from the patient for publication of this case report and any accompanying images. All authors read and approved the final manuscript

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Bourneville D

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