Repeated limb twitches 3 months + speech difficulties, don't forget this cause!

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Layer by layer, temper clinical diagnosis and treatment thinking

Repeated convulsions of the extremities + speech difficulties, is it cerebral infarction? Is it a meningioma? What is the real culprit? Let's take a look.

Cases

10 days before admission, another limb convulsions, visit our hospital, check the skull CT scan: "double basal ganglion calcification", head MRI plain sweep: "left temporal lobe lesions, inflammation is possible", neurosurgery to consider "meningioma? "Admitted to the hospital, after admission to the hospital to give sodium valproate to control epilepsy

Two days after admission, MR enhancement of the head showed that "the lesion of the left temporal lobe was smaller than before, and the enhancement was slightly strengthened.

On the 3rd day after admission, there was a seizure of convulsions in the limbs, after which he could understand the speech of others, but had difficulty expressing speech, accompanied by episodic headache, nausea, and low-grade fever, so he was transferred to neurology treatment

Consider "Viral encephalitis?" after the transfer? Mitochondrial encephalopathy? ", with hormones, antiviral and other treatments, gradually stop using sodium valproate, and change to oxcarbazepine to control epilepsy

Examination of the nervous system: sensory aphasia; Normal cranial nerves; normal limb muscle strength, muscle tone and amasonic exercise; Depth feels normal; Symmetrically active tendon reflex, bilateral pathological signs are not precipitated; Meningeal irritation is normal

• Qualitative diagnosis:

Young male, episodic onset, chronic course, the main cause of repeated limb twitching and speech difficulties admitted to the hospital, head scan shows left temporal lobe lesion, blood lactate increase, so it is characterized as MELAS
.

■ Common diseases of juvenile seizures:
common in idiopathic epilepsy, juvenile myoclonic epilepsy, trauma, drugs, intracranial infections, genetic diseases
.
■ Symptoms commonly seen in temporal lobe lesions:
(1) ipsilateral superior quadrant blindness of temporal lobe lesions in the dominant hemisphere; Sensory aphasia in the posterior part of the upper temporal gyrus; Nomenclatial aphasia appears in the posterior part of the mediatal temporal gyrus; Visual agnosia
.
(2) Cortical deafness
occurs in transverse temporal gyrus lesions.
(3) Hook back lesions, hook back seizures with dream state
.
(4) Hippocampal lesions have memory decline and forgetting
.
(5) Auditory hallucinations, odor hallucinations, visions and hallucinations
.
(6) Vertigo, balance disorders
.
(7) Emotional and behavioral changes
.

Differential diagnosis of MELAS

(1) Viral encephalitis: it is easy to be confused with MELAS with epilepsy as the first symptom, but most of the viral encephalitis have a history of infection, high fever, mental abnormalities, and decreased intelligence; The lesions on MR of the skull are mostly located in the temporal lobe and frontal lobes, mainly cortical damage, there may be bleeding, no basal ganglion calcification, and no high lactic acid in cerebrospinal fluid, which can be distinguished
.
(2) Cranial brain tumors: most of the progressive exacerbations, the mass effect of the lesion is obvious, and there are no other system damage manifestations, which can be excluded
.
(3) Cerebral infarction: MELAS stroke-like attack should be distinguished from cerebral infarction, most lesions of cerebral infarction conform to vascular distribution, and cortical and white matter are affected at the same time; The MELAS lesion does not conform to the vascular distribution, mainly affects the cortex, and the deep white matter is relatively retained, which can be distinguished
.

Diagnostic criteria for MELAS

In 2002, Lizuka et al^.
[4] proposed diagnostic criteria for MELAS:
(1) clinical manifestations of at least one stroke-like episode; (2) There are responsible lesions in acute CT or MR that meet the clinical manifestations; (3) Cerebrospinal fluid high lactic acid; (4) Muscle biopsy MGT see broken red fiber (ragged-redfiber, RRF), SDH staining to see strong vascular response
.
The first 3 are clinical diagnoses, and all 4 are confirmed by confirmation
.
The 2020 "Consensus on the Diagnosis and Treatment of Mitochondrial Encephalomyopathy with Hyperlactic Acidemia and Stroke-like Episodes in China" ^[5] included genes that suggested mitochondrial DNA or nuclear DNA mutations, the most common mtDNA A3243G mutation examination
.

A common type of mitochondrial encephalomyopathy

There are 4 common types of mitochondrial encephalomyopathy:

(1) Mitochondrial encephalomyopathy with hyperlactemia and stroke-like episodes (MELAS
).

(2) Mitochondrial encephalomyosis with myoclonic epilepsy and broken red fiber (MERRF): manifested as progressively worsening myoclonic epilepsy, exercise intolerance, cerebellar ataxia, muscle biopsy shows broken red fiber
.

(3) Chronic progressive extraocular muscle palsy (CPEO): manifested as chronic progressive extraocular muscle palsy with ptosis
.

(4) Kearns-Sayre syndrome (KSS): It is generally considered to be a subtype of CPEO, manifested by retinitis pigmentosa, heart block and extraocular muscle paralysis
.

Imaging features of MELAS

(1) Abnormal signals of cerebral cortex can be seen on MR of the skull, which are more common in the parietal occipital lobe and the posterior temporal lobe, which do not meet the distribution of blood vessels, and the lesions can migrate and change, that is, with the stroke getting better, they disappear, and the stroke recurrence can reappear, and the location is not fixed
.

(2) Calcification of the basal ganglion may occur on the CT of
the skull.

(3) White matter can be affected mainly by subcortical and posterior white matter in the triangular area
.

(4) 1H-MRS can see lesion area and cerebrospinal fluid area lactate bimodal, and even in the seemingly normal side of the brain tissue Lac peak is also slightly increased, but this phenomenon is not MELAS endemic, cerebral infarction, encephalitis, etc.
can also appear, should be comprehensively analyzed
.

In contrast to cerebral infarction, MELAS presents with angiogenic edema in the acute phase with normal or slightly reduced DWI, while ADC is normal or elevated with hyperperfusion changes in PWI, which can be distinguished from
cerebral infarction.

MELAS therapy

Currently, a "cocktail therapy"
based on a multivitamin based on CoQ10 is used.

As an important coenzyme for electron conduction in mitochondrial complexes, coenzyme Q10 can improve oxidative phosphorylation disorders, and the recommended dosage is 50~100mg tid, and there are reports
of 600~1200mg/d use abroad.

Other vitamins include vitamin E 50 to 100 mg tid, vitamin C 0.
2 g tid, vitamin B₂ 30 to 300 mg/day, vitamin B 1 25 to 300 mg/day, vitamin K 34 to 8 mg/day, and some people who lack carnitine can supplement levocaniptine 1 to 3 g/day
.

The use of L-arginine has been reported to improve endothelial function and prevent stroke attacks
.

Liu Jianguo et al.
reported that the use of buccinylphthalein plus multivitamin "modified cocktail therapy" to treat mitochondrial encephalomyopathy can improve prognosis
.

Treatment of seizures, diabetes, and arrhythmias is important
.

In addition, moderate aerobic exercise can be performed
.

References:[1] Yatsuga S,Povalko Nataliya,Nishioka Junko.
MELAS:a nationwide prospective cohort study of 96 patients in Japan.
Biochim Biophys Acta.
2012,1820(5):619-24.
Liu Shuqin, Wang Xinwen, Niu Jinliang, etc.
Magnetic resonance imaging of three cases of mitochondrial encephalomyopathy with hyperlactemia and stroke-like attacks.
Chinese Journal of Drugs and Clinical Medicine,2018,18(12).
Jia Rui, Zhao Zhonghua, Zheng Qi, etc.
Two cases of mitochondrial encephalomyosis with hyperlactic acidemia and stroke-like attack syndrome were reported and reviewed in the literature.
Journal of Stroke and Neurological Disorders.
2018,35(03).

[4] Andrzej Kiejna,Salvatore DiMauro,Tomasz Adamowsk.
Psychiatric symptoms in a patient with the clinical features of MELAS.
Med Sci Monit,2002,8(7):66-72.

[5] Expert consensus on the diagnosis and treatment of mitochondrial encephalomyosis with hyperlactemia and stroke-like episodes in China.
Chinese Journal of Neurology.
2020,53(03).

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Source of this articleMedical Neurology Channel This article author | Yuan Weizhe reviewed this article | Deng Caihong, Deputy Chief Physician Responsible Editor, Mr.
Lu Li

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