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Table of Contents    
Year : 2021  |  Volume : 69  |  Issue : 6  |  Page : 1846-1847

A Report of HERNS

1 Department of Neurology, Chinese PLA General Hospital, Beijing, China
2 Beijing Clinical Service Center, Beijing, China

Date of Submission02-Aug-2018
Date of Decision20-Mar-2020
Date of Acceptance24-Dec-2020
Date of Web Publication23-Dec-2021

Correspondence Address:
Dr. Xiaokun Qi
Department of Neurology, Chinese PLA General Hospital
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.333507

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How to cite this article:
Yu Y, Yao S, Ren M, Qi X. A Report of HERNS. Neurol India 2021;69:1846-7

How to cite this URL:
Yu Y, Yao S, Ren M, Qi X. A Report of HERNS. Neurol India [serial online] 2021 [cited 2022 Jan 26];69:1846-7. Available from:

Dear Sir,

Hereditary endotheliopathy with retinopathy, nephropathy, stroke (HERNS) are one kind of retinal vasculopathy with cerebral leukencephalopathy (RVCL) named originally according to the organ of dominant involvement: Hereditary vascular retinopathy (HVR), cerebroretinal vasculopathy (CRV), HERNS, and hereditary systemic angiopathy (HSA).[1] We reported one case of HERNS.

A 39-year-old right-handed man was admitted on January 9, 2017 due to 5 years of blurred vision, weakness in the left limbs, urinary proteins, and 1 month of speech difficulty with right limb weakness. In early 2012, he experienced easy fatiguability and blurred and darkened vision in his right eye. He was diagnosed with optic nerve injury, hypertension, and presence of urinary proteins. Brain MRI scans showed a focus on right frontal lobe [Figure 1]a and [Figure 1]b, glioma was then considered and the focus was ablated. The pathology showed focal cerebral infarction. From 2013 to 2015, proteinuria and elevated serum creatinine level were detected. Renal biopsy showed membranoproliferative glomerulonephritis and ischemic nephrosis. The patient was treated with cortisone. On Oct 1, 2015, he received an enterectomy due to hematochezia. In Nov, 2016, he started experiencing a gradual reduction in speech, having difficulty finding words. On Dec 16, 2016, MRI showed a space-occupying lesion on his left frontal and temporal lobes [Figure 1]c and [Figure 1]d, with unremarkable findings on MRA and MRV [Figure 1]e and [Figure 1]f. He received left frontal craniotomy and biopsy because of the severe mass effect [Figure 1]g and [Figure 1]h. The pathological study showed focal cerebral infarction [Figure 1]i,[Figure 1]j,[Figure 1]k,[Figure 1]l. The neurologic examinations demonstrated motor aphasia, pseudobulbar affect, and reduced color vision in the right eye. Bilateral palmomental reflexs were elicited and bilateral muscle tone was increased. Left limb grade V-, right limb gradeIII-. Bilateral Babinski signs were dorsal extensive. Laboratory examinations: White blood cells 2.42 × 1012/L, red blood cells 11.54 × 109/L, HGB 72 g/L, urea 11.0 mmol/L, creatinine 215.4 μmol/L, urine protein 0.25 g/L. ANCA, anti-dsDNA antibody were all within normal limits. His fundus photography was normal [Figure 1]m and [Figure 1]n. The NOTCH3, HTRA1, COL4A1, KRIT1, PRNP, and TREX1 genes related to cerebral hereditary small vessels were sequenced. His TREX1[2] gene was found to have two heterozygous mutations: c. 531C >T and c. 734dupC induced to amino acid changes, p.Y177Y and p.S246IfsX16. c. 531C >T gene mutation from mother is homozygote. C.734dupC is pathogenicity mutation, which both of his parents did not have. He was diagnosed with HERNS and treated with 30 mg cortisone for one month. His neurological deficits improved significantly and the patient has been walking independently since September 2017.
Figure 1: (a) Brain axial MRI showed long signal mixed with short signal lesion on T2 weighed image in the right frontal lobe. (b) Brain axial MRI showed enhancement of a partial focus on contrast-enhanced MRI. (c) Brain axial MRI showed long signal with short signal on T1 weighed image in the left frontal lobe. (d) Brain axial MRI showed long signal with short signal in T2 weighed image in the left frontal lobe. (e) Brain MRA was normal. (f) All major venous sinuses were patent and did not show any abnormal signals in brain MRV. (g) Brain axial MRI showed long signal mixed with short signal lesion on T1 weighed image in the left frontal lobe after craniotomy for reducing the mass effect. (h) Brain axial MRI showed long signal mixed with short signal lesion on T2 weighed image in the left frontal lobe after craniotomy for reducing the mass effect. (i-l) Histopathologic analysis was cerebral tissue was mainly necrosis (green arrow), neutrophilic granulocyte and histiocytes reaction (blue arrow), occlusion of small blood vessels (black arrow), gliacyte hyperplasia (yellow arrow). (m and n) His bilateral fundus photographies were normal

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Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

National Natural Science Fundation of China (81300923) and Beijing Municipal Science and Technology Commission, PR China (Z16110000516187).

Conflicts of interest

There are no conflicts of interest.

  References Top

Kolar G, Kothari P, Khanlou N, Jen J, Schmidt R, Vinters H. Neuropathology and genetics of cerebroretinal vasculopathies. Brain Pathol 2014;24:510-8.  Back to cited text no. 1
Saito R, Nozaki H, Kato T, Toyoshima Y, Tanaka H, Tsubata Y, et al. Retinal vasculopathy with cerebral leukodystrophy: Clinicopathologic features of an autopsied patient with a heterozygous TREX 1 mutation. J Neuropathol Exp Neurol 2019;78:181-6.  Back to cited text no. 2


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