Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature

BACKGROUND Type 1 sialidosis,also known as cherry-red spot-myoclonus syndrome,is a rare autosomal recessive lysosomal storage disorder presenting in the second decade of life.The most common symptoms are myoclonus,ataxia and seizure.It is rarely encountered in the Chinese mainland.CASE SUMMARY A 22-year-old male presented with complaints of progressive myoclonus,ataxia and slurred speech,without visual symptoms;the presenting symptoms began at the age of 15-year-old.Whole exome sequencing revealed two pathogenic heterozygous missense variants[c.239C>T(p.P80L)and c.544A>G(p.S182G)in the neuraminidase 1(NEU1)gene],both of which have been identified previously in Asian patients with type 1 sialidosis.All three patients identified in China's Mainland come from three unrelated families,but all three show the NEU1 mutations p.S182G and p.P80L pathogenic variants.Increasing sialidase activity through chaperones is a promising therapeutic target in sialidosis.CONCLUSION Through retrospective analysis and summarizing the clinical and genetic characteristics of type 1 sialidosis,we hope to raise awareness of lysosomal storage disorders among clinicians and minimize the delay in diagnosis.

Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review

BACKGROUND Cerebrotendinous xanthomatosis(CTX)is a treatable autosomal recessive inherited metabolic disorder.It results from a deficiency of sterol 27-hydroxylase(CYP27A1),which is a mitochondrial cytochrome P450 enzyme that catalyzes the hydroxylation of cholesterol and modulates cholesterol homeostasis.Patients with CYP27A1 deficiency show symptoms related to excessive accumulation of cholesterol and cholestanol in lipophilic tissues such as the brain,eyes,tendons,and vessels,resulting in juvenile cataracts,tendon xanthoma,chronic diarrhea,cognitive impairment,ataxia,spastic paraplegia,and peripheral neuropathy.CTX is underdiagnosed as knowledge of the disorder is mainly based on case reports.CASE SUMMARY A Chinese family with CTX consisting of one patient and four heterozygous carriers was studied.The patient is a 47-year-old male,who mainly had psychiatric signs but without some cardinal features of CTX such as cataracts,cerebellar ataxia,pyramidal signs and chronic diarrhea.There was a significant increase in the concentration of free fatty acid compared to normal range.Doppler ultrasound of the urinary system showed multiple left kidney stones,a right kidney cyst,and a hypoechoic area in the bladder,which could move with body position.Sagittal and axial magnetic resonance imaging(MRI)of the right ankle joint showed apparent enlargement of the right Achilles tendon and upper medial malleolus flexor tendon,abnormal thickening of the plantar fat,and a small amount of exudation around the fascia in front of the Achilles tendon.Cerebral MRI suggested white matter(WM)demyelination and slight cerebral atrophy.The diagnosis was confirmed by targeted sequencing,which identified compound heterozygous mutations in exon 2 and intron 7 of the CYP27A1 gene(c.435G>T,c.1263+1G>A).Treatment for 3 wk with a combination of lipid-lowering and antipsychotic therapy improved his psychiatric symptoms and normalized the levels of serum free fatty acid.Sediments in the bladder disappeared after therapy.CONCLUSION CYP27A1 genetic analysis should be the definitive method for CTX diagnosis.This case suggests that urinary system diseases may be neglected in CTX patients.The clinical,biological,radiological,and genetic characteristics of CTX are summarized to promote early diagnosis and treatment of this disease.

Hemichorea due to ipsilateral thalamic infarction: A case report

BACKGROUND Hemichorea usually results from vascular lesions of the basal ganglia.Most often,the lesion is contralateral to the affected limb but rarely,it may be ipsilateral.The pathophysiology of ipsilateral hemichorea is still poorly understood.We review the literature on hemichorea due to ipsilateral cerebral infarction and explore possible mechanisms for its occurrence.CASE SUMMARY A 72-year-old woman presented with complaints of involuntary movements of the muscles of the left side of the face and mild weakness of the right limbs.Her symptoms had started suddenly 1 d earlier.After admission to the hospital,the involuntary movements spread to involve the left limbs also.Magnetic resonance imaging revealed a left thalamic infarction.The patient’s hemichorea subsided after treatment with haloperidol(2 mg per time,3 times/d)for 3 d;the hemiparesis resolved with rehabilitation physiotherapy.She is presently symptom free and on treatment for prevention of secondary stroke.We review the literature on the occurrence of ipsilateral hemichorea following thalamic infarction and discuss the possible pathomechanisms of this unusual presentation.CONCLUSION Ipsilateral hemichorea following a thalamic stroke is rare but it can be explained by structure of the extrapyramidal system.The thalamus is a relay station that exerts a bilateral control of motor function.

Hypereosinophilia with cerebral venous sinus thrombosis and intracerebral hemorrhage:A case report and review of the literature

BACKGROUND Hypereosinophilia(HE)is defined as a peripheral blood eosinophil count of>1.5×109/L and may be associated with tissue damage.The clinical presentations of HE vary;however,myocardial fibrosis and thrombosis can threaten the lives of patients with sustained eosinophilia.Cerebral venous sinus thrombosis(CVST)in the setting of eosinophil-related diseases has seldom been reported.Here,we review the literature on HE with CVST to increase knowledge and encourage early diagnosis.CASE SUMMARY A previously healthy 41-year-old man was admitted to hospital with diarrhea and abdominal pain.He was treated with antibiotics for suspected acute colitis.Three days later,he experienced headache and vomiting.Brain computed tomography(CT)revealed thrombosis of the left jugular vein to the left transverse sinus vein.Platelet(PLT)count decreased to 60×1012/L,and absolute eosinophil count(AEC)increased to 2.41×109/L.He was treated with low-molecular-weight heparin.PLT count progressively decreased to 14×109/L,and we terminated anticoagulation and performed PLT transfusion.Six days after admission,he complained of a worsening headache.Brain CT revealed right temporal lobe and left centrum semiovale intracerebral hemorrhage,and AEC increased to 7.65×109/L.We used prednisolone for HE.The level of consciousness decreased,so emergency hematoma removal and decompressive craniectomy for right cerebral hemorrhage were performed.The patient was alert 2 d after surgery.He was treated with anticoagulation again 2 wk after surgery.Corticosteroids were gradually tapered without any symptomatic recurrence or abnormal laboratory findings.CONCLUSION HE can induce CVST,and we need to focus on eosinophil counts in patients with CVST.

Concomitant Othello syndrome and impulse control disorders in a patient with Parkinson’s disease:A case report

BACKGROUND Othello syndrome(OS)is characterized by delusional beliefs concerning the infidelity of a spouse or sexual partner,which may lead to extreme behaviors.Impulse control disorders refer to behaviors involving repetitive,excessive,and compulsive activities driven by an intense desire.Both OS and impulse control disorders in Parkinson’s disease(PD)may be side effects of dopamine agonists.At present,there are only a few case reports and studies related to PD with concomitant OS and impulse control disorders.CASE SUMMARY We describe a 70-year-old male patient with PD,OS,and impulse control disorders,who presented with a six-month history of the delusional belief that his wife was having an affair with someone.He began to show an obvious increase in libido presenting as frequent masturbation.He had been diagnosed with PD ten years earlier and had no past psychiatric history.In his fourth year of PD,he engaged in binge eating,which lasted approximately one year.Both OS and hypersexuality were alleviated substantially after a reduction of his pramipexole dosage and a prescription of quetiapine.CONCLUSION Given its potential for severe consequences,OS should be identified early,especially in patients undergoing treatment with dopamine agonists.

Mills’syndrome is a unique entity of upper motor neuron disease with N-shaped progression:Three case reports

BACKGROUND Mills’syndrome is an extremely rare degenerative motor neuron disorder first described by Mills in 1900,but its nosological status is still not clear.We aimed to analyze the clinical features of Mills’syndrome.CASE SUMMARY Herein,we present 3 cases with similar features as those described in Mills’original paper and review the related literature.Our patients showed middle-and older-age onset,with only upper motor neuron symptoms evident throughout the course of the disease.Spastic hemiplegia began in the lower extremity with a unique progressive pattern.CONCLUSION We consider that Mills’syndrome is a unique entity of motor neuron disorder with an N-shaped progression.Clinicians should maintain a high index of suspicion for the diagnosis of Mills’syndrome when the onset involves lower extremity paralysis without evidence of lower motor neuron or sensory involvement.

Hyperglycemic hemianopia:A case report

BACKGROUND Nonketotic hyperglycemia(NKH)is characterized by hyperglycemia with little or no ketoacidosis.Diverse neurological symptoms have been described in NKH patients,including choreoathetosis,hemiballismus,seizures,and coma in severe cases.Homonymous hemianopia,with or without occipital seizures,caused by hyperglycemia is less readily recognized.CASE SUMMARY We describe a 54-year-old man with NKH,who reported seeing round,colored flickering lights with right homonymous hemianopia.Cranial magnetic resonance imaging demonstrated abnormalities in the left occipital lobe,with decreased T2 signal of the white matter,restricted diffusion,and corresponding low signal intensity in the apparent diffusion coefficient map.He responded to rehydration and a low-dose insulin regimen,with improvements of his visual field defect.CONCLUSION Patients with NKH may present focal neurologic signs.Hyperglycemia should be taken into consideration when making an etiologic diagnosis of homonymous hemianopia.

Short-term clinical efficacy of capecitabine combined with oxaliplatin in the treatment of stage Ⅱ and Ⅲ rectal cancer after operation with Shengmai Yin

[Objective]To observe the short-term clinical efficacy of ciprofloxacin+oxaliplatin combined with Shengmaiyin onⅡ/Ⅲrectal cancer patients.[Method]120(2011.2-2018.2,Department of Surgical oncology,The Center Hospital Affiliated to Shenyang Medical College)Ⅱ/Ⅲrectal cancer patients,then they were randomly divided into control group and observation group,every group include 60 patients.The control group were given ciprofloxacin+oxaliplatin,and the three-dimensional conformal radiotherapy,observation group were given Shengmaiyin,treatment for 1 month,then assessed the clinical efficacy,the immunidy index(cellular immunity and humoral immunity),and record the adverse reaction.[Results]After treatment,short term clinical efficacy in observation group significantly better than the control group but the difference had no statistical significance(p>0.05).After treatment,the immunidy index(cellular immunity and humoral immunity)in the two groups were better than before treatment,the difference had statistical significance(p<0.05),and the observation group were better than control group,the difference had statistical significance(p<0.05).During the treatment,reducing leucocyte and platelet,nausea,vomit,etc were appearring in both groups,the clinical in the observation group was better than control group(94.00%vs 90.91%),but the difference had no statistical significance(P>0.05).[Conclusions]Using the ciprofloxacin+oxaliplatin combined with Shengmaiyin onⅡ/Ⅲrectal cancer patients treatment can improve the immunidy function and short-term clinical efficacy.

Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations:A literature reanalysis

Background:The hereditary spastic paraplegias(HSPs)are a group of clinically and genetically heterogeneous disorders.Approximately 10% of the autosomal dominant(AD)HSPs(ADHSPs)have the spastic paraplegia 3A(SPG3A)genotype which is caused by ATL1 gene mutations.Currently there are more than 60 reported ATL1 gene mutations and the genotype-phenotype correlation remains unclear.The study aims to investigate the genotypephenotype correlation in SPG3A patients.Methods:We performed a reanalysis of the clinical features and genotype-phenotype correlations in 51 reported studies exhibiting an ATL1 gene mutation.Results:Most HSPs-SPG3A patients exhibited an early age at onset(AAO)of<10 years old,and showed an autosomal dominant pure spastic paraplegia.We found that 14% of the HSPs-SPG3A patients presented complicated phenotypes,with distal atrophy being the most common complicated symptom.The AAO of each mutation group was not statistically significant(P>0.05).The mutational spectrum associated with ATL1 gene mutation is wide,and most mutations are missense mutations,but do not involve the functional motif of ATL1 gene encoded atlastin-1 protein.Conclusions:Our findings indicate that there is no clear genotype-phenotype correlation in HSPs-SPG3A patients.We also find that exons 4,7,8 and 12 are mutation hotspots in ATL1 gene.