Herpes simplex viral encephalitis, SUSAC syndrome, hypertrophic lower olive nucleus degeneration, 3 minutes reading, 38 period

The 3-minute reading column is updated once every two weeks, and highlights the wonderful cases in the past two weeks for everyone to learn and discuss
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There are thunderous breakfast case studies for medical pulse nerves five working days a week, 3 short and succinct small cases every day, and 3 knowledge points every day
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The collision of everyone's thoughts has produced countless sparks of wisdom, often wandering around in the group, and gaining new gains every day
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Cases provided: Yang Keping, Liu Juan, Liu Qing, Fu Rong, Zhao Yaohui, Tangshan Kailuan Shennei, Tu Ewen, Xie Guangdi, Gao Yunqing, Zhao Chaolun, Liu Zhihong, Li Haohao, Zhao Liang, Cheng Xuan, Dong Caixia, Ming Tao, Guo Guixiang, Zhao Master Feng, Jing Xiong, Feng Qiu, Liu Zhiqin Cases: Li Huiming, Yu Xiaogang, Zhang Kun, Sha Mengyu, Li Zhangxia, Xie Hongrong, Tan Xiaolin, Gu Cuichen Reading team leader: Li Huiming Reviewers: Shen Yongguo, Liang Xinming , Huang Botao concluded: Lu Zhijie's case 1, a 49-year-old female, was admitted to the hospital with fever for 2 days and abnormal mental behavior for 2 days
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Diagnosis: herpes simplex virus encephalitis
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Case analysis: Herpes simplex virus encephalitis type 1 causes brain parenchymal infection, the clinical manifestations are infectious disease course, limbic system involvement manifestations, cognitive changes, disturbance of consciousness, epilepsy, etc.
, imaging manifestations are limbic system (medial temporal lobe, frontal lobe) Bottom) T2/FLAIR high signal with limited diffusion, high sensitivity on DWI, bleeding on SWI, with or without patchy, gyri-like enhancement
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The gray matter nucleus is generally not involved, so the insular disease is limited to the outside of the outer capsule, showing a "knife cut sign
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Characteristic images combined with typical clinical manifestations are not difficult to diagnose and belong to entry-level cases
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Identical diseases need to differentiate gliomas
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 The case is a 226-year-old male with a history of intractable epilepsy for 7 years
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Diagnosis: Leukoencephalopathy (Leukoencephalopathy, cerebral calcification, and cysts, LCC) with calcification and cysts
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Case analysis: LCC is very rare
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It has been called "Labrune syndrome" since Labrune reported the first case in 1996
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Clinical features include recurrent seizures, cognitive decline, and pyramidal and extrapyramidal symptoms
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CT is characterized by extensive calcification involving bilateral basal ganglia and bilateral deep cerebellar nuclei
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MRI showed extensive abnormal white matter hyperintensity indicating leukoencephalopathy
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Accompanied by the formation of multiple cystic lesions, there may be a space-occupying effect
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The main differential diagnosis: cerebral cysticercosis, cerebral hydatid disease, coat disease, calcification and brain cysts and other retinal microangiopathy
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Reference: Indian J Radiol Imaging.
2021 Jul; 31(3): 772-775.
Case: A 340-year-old male with tinnitus, hearing loss, and unstable walking for 7 days
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Diagnosis: SUSAC syndrome
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Case analysis: Susac syndrome (SS) is a rare disease that mainly affects women between the ages of 20 and 40
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Its typical features are the clinical triad of encephalopathy, branch retinal artery occlusion and sensorineural hearing loss
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In many cases, this triad is not completely present at the time of diagnosis, but occurs at different times
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The diagnosis is based on a combination of clinical manifestations, retinal fluorescein angiography, and MRI features
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SS may be caused by autoimmune-mediated microinfarctions in the brain, retina, and inner ear
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The clinical course is mostly self-limiting and uniphasic
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MRI is the preferred examination method for diagnosing brain involvement
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T2 showed that the intracranial lesions were 3-7mm small, multifocal hyperintensity
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The involvement of the corpus callosum is its characteristic performance
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These corpus callosum lesions have a characteristic "snowball-like" or "icicle-like" morphology
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The "snowball-shaped" lesion is round and located in the center of the corpus callosum
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"Icicle-like" lesions are wedge-shaped and extend from the top of the corpus callosum without touching the bottom of the corpus callosum
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Other lesions located around the ventricle are non-specific to SS
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Restricted diffusion indicates SS micro-infarction in the acute phase
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In fulminant cases, there may be enhancement of the pia mater
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Compared with SS, MS and ADEM lesions in the corpus callosum are usually oval, mainly located at the base and septal interface
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Pia mater enhancement and deep gray matter involvement are not common in MS and ADEM
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References: Kleffner I, Duning T, Lohmann H, et al.
A brief review of Susac syndrome.
J Neurol Sci.
2012; 322(1–2): 35–40.
Case 4 female, 42 years old, with weakness of left lower limb In February, the left upper limb was weak for January
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Head MRI: Reexamination after half a year: Diagnosis: hereditary diffuse leukoencephalopathy with spherical axon (HDLS)
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Case analysis: The HDLS movie has been read many times, and many teachers are already familiar with the disease in seconds
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This time we will take a comprehensive review of the legendary "Back to Lhasa" (HDLS)
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HDLS and pigmented orthochromatic leukodystrophy (POLD) are both caused by CSF1R mutations, and the imaging and clinical manifestations overlap.
At present, the academic community has collectively referred to the two as "adult-onset with axonal ball degeneration" "Adult-onset diffuse leukoencephalopathy with axonal spheroids and pigmented glia, ALSP), also known as CSF1R-related white matter disease
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Japan has a high incidence rate.
Related scholars published the ALSP diagnostic criteria online in Eur J Neurol in 2017: Core features: 1.
Age of onset ≤ 60 years old; 2.
The following clinical signs and symptoms were found to exceed 2 items; a) Cognitive impairment or mental symptoms b) Pyramidal tract signs c) Parkinson’s syndrome d) Epilepsy 3.
Autosomal dominant or sporadic inheritance; 4.
Brain CT/MRI results; a) Bilateral white matter lesions b) Callosum Thinning 5.
Other causes of leukoencephalopathy can be ruled out, including vascular dementia, multiple sclerosis, or leukodystrophy (for example, adrenal leukodystrophy, krabbe, metachromatic leukodystrophy)
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➤Exclusion criteria: 1.
Age of onset ≤10 years old 2.
Except for epilepsy, stroke-like seizures more than two times 3.
Outstanding peripheral neuropathy ➤Support criteria: 1.
Clinical features or frontal lobe dysfunction revealed by cognitive scale tests 2.
The rapid progress of the disease
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Bedridden within 5 years after the onset of the disease 3.
Brain CT shows spotty small calcifications in the white matter 4.
Neuropathological findings that meet the ALSP diagnosis According to the above criteria, the diagnosis of ALSP can be divided into three levels: confirmed, probable, and possible
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Diagnosis: meet core characteristics 2, 3, and 4a and confirm CSF1R mutation; very likely: meet core characteristics 1-5 but have not undergone genetic testing; possible: meet core characteristics 2a, 3, and 4a, but have not undergone genetic testing
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 Supplementary note 1.
Age of onset The average age of onset of ALSP is 43±11 years (range, 18-78 years), but women are significantly younger than men (40 and 47 years)
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Ninety-five percent of cases have the onset at the age of 60
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2.
Clinical signs and symptoms Cognitive impairment or psychiatric symptoms are the main characteristics and occur frequently
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Mental symptoms include anxiety, depression, apathy, apathy, incompetence, irritability, disinhibition, distraction, and other changes in behavior and personality
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Pyramidal tract signs include hyperreflexia, spasms, increased limb tension, and pseudobulbar palsy
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Parkinson's syndrome includes resting tremor, rigidity, bradykinesia, and postural instability
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Parkinson's symptoms do not respond to levodopa
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Seizures are observed in approximately 30% of cases, but it may be characteristic of ALSP in other leukoencephalopathy
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3.
Inheritance: sporadic cases are not uncommon
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4.
Brain CT/MRI results In brain MRI scans, white matter lesions without enhancement may be scattered and asymmetrical at the initial stage of the disease, but later become convergent, diffuse and more symmetrical
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The frontal and parietal lobes are dominant, with deep white matter involvement around the ventricle and lateral ventricle dilation
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Even in the early stages of the disease, thinning of the corpus callosum is observed with signal abnormalities
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It is recommended to use FLAIR sagittal imaging to assess changes in the corpus callosum
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In some cases, abnormal signaling in pyramidal tracts and diffusion-limited lesions has been observed
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ALSP does not have bridge arm disease
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In CT scans of the brain, bilateral calcifications are often observed in the frontal white matter adjacent to the anterior horn of the lateral ventricle and the subcortical area of ​​the parietal lobe
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The calcification may be very small
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Therefore, it is recommended to use thin-slice CT (1mm) for detection
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The characteristic "stepping stone appearance" can be seen on the sagittal plane
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5.
Neuropathological findings Neuropathological findings include prominent white matter lesions with myelin and axon damage, swelling of nerve axons (spheroid formation), and pigmented macrophages and glial
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6.
CSF1R mutations, except for two frameshift mutations, all reported mutations are located in the tyrosine kinase domain of CSF1R
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ALSP is a rare cerebrovascular disease.
Its clinical manifestations are similar to other cerebrovascular diseases.
Persistent periventricular (watershed area) persistent diffusion limitation, punctate calcification foci in the lesion, and thinning of the corpus callosum are indicative of the disease.
The imaging features of the disease
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Did you lose school this time? References: 1.
Konno, T.
et al.
Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation.
Eur.
J.
Neurol.
25, 142–147 (2018).
2.
Konno, T .
et al.
Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.
Eur.
J.
Neurol.
24, 37–45 (2017).
Case 5 patient, female, 51 years old
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The weakness of the right limb increased for 5 hours
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Supplementary information: On October 28, 2020, he was hospitalized due to "sudden right limb dysfunction with unconsciousness for 2+ hours" and was diagnosed with brainstem hemorrhage
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Diagnosis: Hypertrophic olive nucleus degeneration (HOD)
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Case analysis: The essence of HOD is Waller's degeneration of fiber bundles.
The anatomical basis is composed of the red nucleus of the midbrain (RN), the ipsilateral inferior olive nucleus (ION) and the contralateral cerebellar dentate nucleus (DN).
Guillain-Mollaret triangle (Guillain-Mollaret triangle, GMT) lesions are related
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The lesions on this pathway can cause degeneration of the lower olive nucleus at the lower end, with palate tremor and a series of symptoms
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Unilateral SCP damage can cause unilateral HOD, while damage to SCP and CTT at the same time can cause bilateral HOD
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The imaging manifestations were swelling of the ventral medulla oblongata, and MRI showed long T1 and long T2 signals with or without enhancement
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The clinical manifestations of HOD are divided into two parts: one is caused by primary injury, and the other is caused by HOD, so it will lead to various signs
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Primary injury is mainly brainstem signs, such as cranial nerve injury, pyramidal tract disease and so on
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In addition HOD palatal tremors can cause, it can also occur via other manifestations GMT injury, such as ataxia, Holmes tremor, red nucleus tremor, dysarthria, dysphagia
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The MRI changes of HOD have three stages: the first stage 4-6 months after the original injury, the ION signal changes but the volume remains the same; the second stage increases the T2 signal with obvious hypertrophy, which lasts for 3-4 years; the third stage swelling subsides, ION shrinks after a few years, but T2 high signal may exist for a long time
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In addition, it should be noted that HOD is a delayed injury with subacute-chronic onset.
About 4-6 months after the first symptoms caused by the primary lesion, the original symptoms are restored or basically stable.
Symptoms of disabling ataxia and bulbar palsy occur, but at this time there is no obvious new infarction on the cranial MRI, and the imaging findings are relatively hidden.
Therefore, there are often missed and misdiagnosed and inappropriate treatments
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References: 1.
Front Neurol.
2021; 12: 675123.
2.
Neurosci Insights.
2021; 16:26331055211007445.
3.
Tremor Other Hyperkinet Mov (NY).
2020;10: 40.
4.
Mov Disord Clin Pract.
2021 Mar13;8(3): 435-444.
Case 6 The patient is 64 years old, male, with head discomfort for more than 1 month, paroxysmal loss of consciousness for 20 days, and unresponsiveness for more than 10 days
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Physical examination: memory, calculation loss, and bilateral Chadock sign suspiciously positive
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Head MRI showed that the head of the lenticular nucleus in the left basal ganglia area had slightly high signal intensity on T1, T2 showed signals such as a circular high signal center, FLAIR, etc.
-hyperintensity, no definite abnormalities in perfusion and diffusion were found
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CTA of head and neck coronary arteries suggests that the blood vessels are acceptable
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Supplementary information: LGI1 antibody IgG titer: cerebrospinal fluid 1:3.
2, serum: 1:32
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Diagnosis: anti-LGI1 antibody encephalitis
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Case analysis: Leucine-rich glioma inactivated 1 (LGI1) encephalitis is the most common immune limbic lobe encephalitis, and it is also an autoimmune encephalitis with an incidence second only to anti-NMDA receptor encephalitis
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The LGI1 protein is mainly expressed in the hippocampus and temporal cortex.
Therefore, the clinical manifestations of anti-LGI1 encephalitis include seizures, cognitive impairment, and mental disorders.
One of the most specific symptoms is facial arm dystonia (FBDS), which is characterized by They are frequent, short-lived, dystonic attacks, mainly involving the face and the ipsilateral arm or leg
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Imaging mainly has two modes of involvement of the medial temporal lobe and the basal ganglia
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The involvement of the medial temporal lobe is not only LGI1, but also an imaging feature of limbic encephalitis
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The pattern of involvement of the basal ganglia of LGI1 encephalitis is not fixed, and short T1 signals have been reported in cases
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There are not many diseases with unilateral basal ganglia with short T1 signal, and diabetic striatum is the first to differentiate
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If there is a seizure with facial arm dystonia, coupled with T1 high signal, you need to focus on LGI1 encephalitis
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Reference: Front Neurol.
2020; 11: 618109.