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*Only for medical professionals to read for reference.
Diagnosis depends on MRI.
The patient is male, 27 years old
.
Intermittent convulsions accompanied by difficulty walking, forgetfulness, unresponsiveness, hearing loss, slurred speech, coughing, diarrhea, and family history
.
Look at the image below, what do you consider the patient’s diagnosis? ---Answer dividing line---Are you sure you want to see the answer? ▌ Image analysis T2WI and FLAIR (A, B): sulci, split brain and lateral ventricle widened, brain stem and cerebellum atrophy (not listed)
.
Brainstem MRS (C): Lac peak (arrow) is visible, NAA decreases, and Cho increases
.
▌ Imaging diagnosis of myoclonic epilepsy with muscle broken red fiber syndrome (MERRF syndrome)
.
▌ Clinical features ①It is caused by mutations in the mitochondrial tDNA (mtDNA) gene (A8344G).
About 80% of patients have a family history, all of which are maternal inheritance, mitochondrial dysfunction, insufficient ATP production, and enhanced tissue anaerobic metabolism; ②Clinical manifestations are muscle Clonus, epilepsy, ataxia, dementia, limb weakness, exercise intolerance; ③Laboratory examination of blood gas lactic acid levels increased, and electromyography showed myogenic or neurogenic damage
.
▌ Image points ①CT and MR showed diffuse brain atrophy or cerebellum and brainstem atrophy.
Rare signs include bilateral putamen necrosis, basal nucleus calcification, thalamic demyelination, and hyperintensity around the midbrain aqueduct; ②MRS see NAA The peak is significantly reduced, the Cho peak is increased, and the Lac can be slightly increased
.
References: [1]Shian WJ, Chi CS, Mak S C.
Neuroimage in infants and children with mitochondrial disorders[J].
Zhonghua Minguo Xiao er ke yi xue hui za zhi [Journal].
Zhonghua Minguo Xiao er ke yi xue hui , 1996, 37(2): 96-102.
More "read one image every day", you can scan the code to view the medical community strives to be accurate and reliable when the published content is approved, but it is not timely for the published content Make any promises and guarantees regarding the accuracy and completeness of the cited information (if any), and shall not assume any responsibility for the outdated content and the possible inaccuracy or incompleteness of the cited information
.
Relevant parties are requested to check separately when adopting or using this as a basis for decision-making
.
Contribution/Reprint/Business Cooperation: yxjsjbx@yxj.
org.
cn
Diagnosis depends on MRI.
The patient is male, 27 years old
.
Intermittent convulsions accompanied by difficulty walking, forgetfulness, unresponsiveness, hearing loss, slurred speech, coughing, diarrhea, and family history
.
Look at the image below, what do you consider the patient’s diagnosis? ---Answer dividing line---Are you sure you want to see the answer? ▌ Image analysis T2WI and FLAIR (A, B): sulci, split brain and lateral ventricle widened, brain stem and cerebellum atrophy (not listed)
.
Brainstem MRS (C): Lac peak (arrow) is visible, NAA decreases, and Cho increases
.
▌ Imaging diagnosis of myoclonic epilepsy with muscle broken red fiber syndrome (MERRF syndrome)
.
▌ Clinical features ①It is caused by mutations in the mitochondrial tDNA (mtDNA) gene (A8344G).
About 80% of patients have a family history, all of which are maternal inheritance, mitochondrial dysfunction, insufficient ATP production, and enhanced tissue anaerobic metabolism; ②Clinical manifestations are muscle Clonus, epilepsy, ataxia, dementia, limb weakness, exercise intolerance; ③Laboratory examination of blood gas lactic acid levels increased, and electromyography showed myogenic or neurogenic damage
.
▌ Image points ①CT and MR showed diffuse brain atrophy or cerebellum and brainstem atrophy.
Rare signs include bilateral putamen necrosis, basal nucleus calcification, thalamic demyelination, and hyperintensity around the midbrain aqueduct; ②MRS see NAA The peak is significantly reduced, the Cho peak is increased, and the Lac can be slightly increased
.
References: [1]Shian WJ, Chi CS, Mak S C.
Neuroimage in infants and children with mitochondrial disorders[J].
Zhonghua Minguo Xiao er ke yi xue hui za zhi [Journal].
Zhonghua Minguo Xiao er ke yi xue hui , 1996, 37(2): 96-102.
More "read one image every day", you can scan the code to view the medical community strives to be accurate and reliable when the published content is approved, but it is not timely for the published content Make any promises and guarantees regarding the accuracy and completeness of the cited information (if any), and shall not assume any responsibility for the outdated content and the possible inaccuracy or incompleteness of the cited information
.
Relevant parties are requested to check separately when adopting or using this as a basis for decision-making
.
Contribution/Reprint/Business Cooperation: yxjsjbx@yxj.
org.
cn
