Letter to the EditorSimultaneous skin-nerve-muscle biopsy and abnormal mitochondrial inclusions in intranuclear hyaline inclusion body disease
Section snippets
Case report
The patient was a 71-year-old male. Forgetfulness, disorientation and acalculia were initially noted at the age of 66. His willingness to engage in activities gradually declined. At 69, he experienced a headache and syncope. NIHID was suspected on the basis of typical findings as evident leukoencephalopathy by T2-weighted images and high-intensity areas in the cortico-medullary junction by diffusion-weighted images on a head MRI as reported previously [3]. Subsequently, his motivation improved
Histopathology
Histological examination of the biopsy revealed widespread IIs in lipid cells, basal cells, vessel smooth muscle cells, fibroblast cells, sweat gland cells of the skin, perineurial cells, myelinated Schwann cells, unmyelinated Schwann cells, and skeletal muscle cells. There were many myelinated Schwann cells with thin myelin. Small number of skeletal muscle had cytoplasmic bodies, ragged red fibers (1–3%), and/or cytochrome c oxidase negative fibers (1–3%), and IIs existed in the skeletal
Electron microscopy
Tissue blocks were sampled from the skin, the sural nerve, and peroneus brevis muscle. Densely stained inclusions were present in cells with or without basal lamina (Fig. 1C and D). The size of them was about 1–2.5 μm. In cells with basal lamina, nuclear chromatin was finely granular, in which filamentous structures formed round agglomerations. The cross-sectional view of the fibers along the minor axis revealed that they were circular with a diameter of 10–15 nm. The border between the
Discussion
We described a case of NIHID in which the diagnosis was confirmed by a head MRI, a simultaneous skin-nerve-muscle triple biopsy including organs with clinically neurological findings, and a review of previously obtained surgical samples (from the stomach and prostate). A definitive diagnosis of NIHID depends to detect IIs in the skin or rectum [3], [4], [5], [6], [7]. In this case, with peripheral neuropathy, so we performed skin-nerve-muscle triple biopsy, and confirmed intranuclear inclusions
Study funding
The authors received no specific funding for this work.
Author contributions
The corresponding author (Shigeo Murayama) and data analyst (Satoru Morimoto) had access to all of the data in the study and take responsibility for the integrity of the data and the accuracy of data analysis. Shigeo Murayama obtained funding. Satoru Morimoto and Hiroyuki Hatsuta analyzed the data. Satoru Morimoto drafted the manuscript. All authors revised the manuscript and approved the final version to be published.
Disclosure statement
None of the authors have any financial relationships to disclose.
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