NOTCH2NLC-related oculopharyngodistal myopathy type 3 complicated with focal segmental glomerular sclerosis : a case report
© 2022. The Author(s)..
BACKGROUND: Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease characterized by progressive ocular, facial, pharyngeal, and distal limb muscle involvement. Recent research showed that GGC repeat expansions in the NOTCH2NLC gene were observed in a proportion of OPDM patients, and these patients were designated as having OPDM type 3 (OPDM3). Heterogeneous neuromuscular manifestations have been described previously in studies of OPDM3; however, kidney involvement in this disease has rarely been reported.
CASE PRESENTATION: Here, we report the case of a 22-year-old Chinese patient with typical manifestations of OPDM complicated with focal segmental glomerular sclerosis (FSGS). This patient with sporadic FSGS exhibited distal motor neuropathy and rimmed vacuolar myopathy in clinical and pathological examinations. An expansion of 122 CGG repeats located in the 5' untranslated region (UTR) of the NOTCH2NLC gene was identified as the causative mutation in this patient. The clinical and histopathological findings fully met the criteria for the diagnosis of OPDM3. In addition, intranuclear inclusions were detected in the renal tubule epithelial cells of this patient, indicating that the kidney may also be impaired in NOTCH2NLC-related GGC repeat expansion disorders (NREDs).
CONCLUSIONS: Our case report demonstrated the clinicopathological cooccurrence of sporadic FSGS and OPDM3 in a patient, which highlighted that the kidney may show inclusion depositions in OPDM3, thus expanding the clinical spectrum of NREDs.
| Errataetall: |
ErratumIn: BMC Neurol. 2022 Aug 8;22(1):295. - PMID 35941591 |
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| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:22 |
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| Enthalten in: |
BMC neurology - 22(2022), 1 vom: 04. Juli, Seite 243 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Ji, Guang [VerfasserIn] |
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| Links: |
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| Themen: |
Case Reports |
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| Anmerkungen: |
Date Completed 06.07.2022 Date Revised 08.08.2022 published: Electronic ErratumIn: BMC Neurol. 2022 Aug 8;22(1):295. - PMID 35941591 Citation Status MEDLINE |
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| doi: |
10.1186/s12883-022-02766-3 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM343088878 |
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| 500 | |a ErratumIn: BMC Neurol. 2022 Aug 8;22(1):295. - PMID 35941591 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2022. The Author(s). | ||
| 520 | |a BACKGROUND: Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease characterized by progressive ocular, facial, pharyngeal, and distal limb muscle involvement. Recent research showed that GGC repeat expansions in the NOTCH2NLC gene were observed in a proportion of OPDM patients, and these patients were designated as having OPDM type 3 (OPDM3). Heterogeneous neuromuscular manifestations have been described previously in studies of OPDM3; however, kidney involvement in this disease has rarely been reported | ||
| 520 | |a CASE PRESENTATION: Here, we report the case of a 22-year-old Chinese patient with typical manifestations of OPDM complicated with focal segmental glomerular sclerosis (FSGS). This patient with sporadic FSGS exhibited distal motor neuropathy and rimmed vacuolar myopathy in clinical and pathological examinations. An expansion of 122 CGG repeats located in the 5' untranslated region (UTR) of the NOTCH2NLC gene was identified as the causative mutation in this patient. The clinical and histopathological findings fully met the criteria for the diagnosis of OPDM3. In addition, intranuclear inclusions were detected in the renal tubule epithelial cells of this patient, indicating that the kidney may also be impaired in NOTCH2NLC-related GGC repeat expansion disorders (NREDs) | ||
| 520 | |a CONCLUSIONS: Our case report demonstrated the clinicopathological cooccurrence of sporadic FSGS and OPDM3 in a patient, which highlighted that the kidney may show inclusion depositions in OPDM3, thus expanding the clinical spectrum of NREDs | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Eosinophilic intranuclear inclusions | |
| 650 | 4 | |a Focal segmental glomerular sclerosis (FSGS) | |
| 650 | 4 | |a GGC repeat expansion | |
| 650 | 4 | |a NOTCH2NLC | |
| 650 | 4 | |a Oculopharyngodistal myopathy (OPDM) | |
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| 700 | 1 | |a Chen, Xian |e verfasserin |4 aut | |
| 700 | 1 | |a Qi, Xiaoming |e verfasserin |4 aut | |
| 700 | 1 | |a Tian, Yun |e verfasserin |4 aut | |
| 700 | 1 | |a Shen, Lu |e verfasserin |4 aut | |
| 700 | 1 | |a Yang, Guofeng |e verfasserin |4 aut | |
| 700 | 1 | |a Song, Xueqin |e verfasserin |4 aut | |
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