The Difficulties of Congenital Syphilis Diagnosis about 3 Cases at Libreville, Gabon

First described embryo fetopathy, congenital syphilis remains a public health problem mostly in developing countries. The diagnosis mainly based on bacteriological and immunological evidence of mother-child couple is not always easy, as it is shown in our three clinical cases. Those three clinical observations demonstrate the difficulties encountered in the diagnosis of congenital syphilis in our country where only the TPHA (Treponema Pallidum Haemaglutination Assay) and VDRL (Venereal Disease Research Laboratory) tests are the only ones to be routinely carried out. Actually, these tests can be negative at the earliest stage of the syphilis or in case of zonal phenomenon. In addition, maternal antibodies could be found in child blood, even if the baby is in good health. At last, the child could have been contaminated belatedly while tests were negative at the third month of pregnancy. Congenital syphilis still exists in our developing countries and, in order to better manage this pathology, a proposition of an efficient algorithm is submitted.

Bilateral retrocorneal hyaline scrolls secondary to asymptomatic congenital syphilis: A case report

BACKGROUND Retrocorneal hyaline scrolls are a rare phenomenon.We report a case of bilateral retrocorneal hyaline scrolls that were likely induced by asymptomatic congenital syphilis.CASE SUMMARY A 71-year-old woman presented with blurred vision due to cataracts.Slit-lamp microscopy revealed bilateral hyaline scrolls with a dichotomous branching pattern extending to the anterior chamber or rods attaching to the rough posterior surface of the cornea.The patient was positive for syphilis-specific antibodies,with no ocular or systemic evidence of congenital or acquired syphilis.Binocular cataract,retrocorneal scroll,and corneal endothelial gutta were considered.The scroll of the right eye was removed during cataract surgery and further observed using hematoxylin–eosin staining and scanning electron microscopy.The cornea of the right eye remained transparent,and the residual scroll seemed stable,however,the corneal endothelial density declined at 13 mo after surgery.In vivo confocal microscopy revealed coalescence of corneal guttae at the level of the corneal endothelium or adhesion to the posterior surface of the endothelium,with enlarged endothelial cells in both eyes.Activated keratocytes in the stroma and a highly reflective acellular structure at the level of the Descemet’s membrane were observed.The removed scroll had a cartilage-like hardness and a circularly arranged fiber-like acellular structure.CONCLUSION Occult congenital syphilis could induce corneal endothelial gutta and theformation of retrocorneal scrolls without other signs of ocular syphilis.

Special electromyographic features in a child with paramyotonia congenita: A case report and review of literature

BACKGROUND Paramyotonia congenita(PMC)stands as a rare sodium channelopaty of skeletal muscle,initially identified by Eulenburg.The identification of PMC often relies on electromyography(EMG),a diagnostic technique.The child’s needle EMG unveiled trains of myotonic discharges with notably giant amplitudes,alongside irregular wave trains of myotonic discharges.This distinctive observation had not surfaced in earlier studies.CASE SUMMARY We report the case of a 3-year-old female child with PMC,who exhibited la-ryngeal stridor,muffled speech,myotonia from birth.Cold,exposure to cool water,crying,and physical activity exacerbated the myotonia,which was relieved in warmth,yet never normalized.Percussion myotonia was observable in bilateral biceps.Myotonia symptoms remained unchanged after potassium-rich food consumption like bananas.Hyperkalemic periodic paralysis was excluded.Cranial magnetic resonance imaging yielded normal results.Blood potassium remained within normal range,while creatine kinase showed slight elevation.Exome-wide genetic testing pinpointed a heterozygous mutation on chromosome SCN4A:c.3917G>A(p.G1306E).After a six-month mexiletine regimen,symptoms alleviated.CONCLUSION In this case revealed the two types of myotonic discharges,and had not been documented in other studies.We underscore two distinctive features:Giant-amplitude potentials and irregular waves.

Type VI Aplasia Cutis Congenita: About a Case Report at University Teaching Hospital of Bouaké

Introduction: Aplasia cutis congenita is a rare congenital dermatosis of which type VI represents the Bart’s syndrome. The aim of this case is to describe the epidemiological, clinical, therapeutic and prognostic characteristics of this condition in a country with limited resources, for the improvement of prognosis and professional practice. Observation: This is a eutrophic newborn, born at term by vaginal delivery, who presented at birth with a unilateral absence of skin on the anteromedial aspect of the right leg starting from the knee and extending to the medial aspect of the right foot, with a dystrophy of the nail of the right big toe without any other visible physical malformation. The evolution was marked at D3 of life by the appearance of bullae on the right hand and elbow as well as on the posterior aspect of the neck, making epidermolysis bullosa suspect. The mother was 38 years old, 8th gesture, 7th pare with history of consanguinity and collodion baby. The association of a localized congenital absence of skin on the lower limbs, epidermolysis bullosa and a nail anomaly led to the diagnosis of congenital cutaneous aplasia of type VI of Frieden’s classification or Bart’s syndrome. The evolution was satisfactory on the 7th day of life with the beginning of scarring. The management was medical. The outcome was unfavorable with the appearance of sepsis and hemorrhage leading to death. Conclusion: Although rare, the clinical diagnosis of Bart’s syndrome is simple. However, the management is complex and the prognosis is reserved. To improve this prognosis, the treatment must guarantee excellent control of the infectious and hemorrhagic risks, an adhesion and good therapeutic compliance by the parents and a rigorous monitoring.

Syphilis and HIV Infection among Pregnant Women Previously Screened Negative during Their First Antenetal Care Visit (ANC) at Some Selected Health Facilities in the Buea Health District, Cameroon

Syphilis and HIV are amongst the world’s most widespread diseases, particularly in low-income countries. Syphilis and HIV infections during pregnancy have been associated with numerous adverse pregnancy outcomes. Of concern now are the rising rates of congenital syphilis and HIV in Cameroon. Cameroon only mandates testing pregnant women for syphilis and HIV during their first ANC visit. This study was aimed at determining the incidence of new syphilis and HIV infections and factors associated with pregnant women who previously tested negative during their first ANC visit. A cohort design was used, where 335 pregnant women were followed up for a period from December 2019 to August 2020. A blood sample was drawn and the serum was analyzed using the WANTAI ELISA and AIDTM HIV 1 + 2 Ag/Ab ELISAPlus test methods for syphilis and HIV respectively at three intervals. A questionnaire was used to identify risk factors. Data was analyzed using SPSS 23.0. Out of the 335 pregnant women who were followed up during this study, 49 (14.6%) were later diagnosed with syphilis (32 in 2nd trimester and 17 in 3rd trimester). 54 (16.1%) were diagnosed with HIV infection (13 at two months post-1st-trimester visit, 23 in the 2nd trimester and 18 in the 3rd trimester). Lastly, 10 (2%) were co-infected with syphilis and HIV of which 8 occurred during 2nd trimester and 2 in the 3rd trimester. The factors associated with contracting new syphilis infections include;younger age group aOR (1.302, 95% CI), leaving in an urban area aOR (3.158, 95% CI), lower level of education (Primary and no formal) with aOR of (9.055, 95% CI) (P = 0.001) and (6.764, 95% CI) (P = 0.006) respectively, inadequate knowledge on the diseases aOR (2.176, 95% CI), women unaware of their partner status aOR (3.190, 95% CI). Most factors associated with contracting new HIV infections were similar to the factors associated with contracting new syphilis infections post 1st ANC visit aOR (1.174, 95% CI) and pregnant women with more than one sexual partner aOR (7.342, 95% CI) were observed for HIV infection.. There is an increased incidence of new infection of syphilis and HIV post first ANC screening in the Buea Health District, Cameroon. The need for constant education on the identifiable factors and these diseases, and screening during every ANC visit irrespective of their previous laboratory results is warranted.

Surgical treatment of atlantoaxial dysplasia and scoliosis in spondyloepiphyseal dysplasia congenita:A case report

BACKGROUND Spondyloepiphyseal dysplasia congenita(SEDC)is a rare autosomal dominant hereditary disease caused by COL2A1 mutations.SEDC primarily involves the skeletal system,with typical clinical manifestations,including short stature,hip dysplasia,and spinal deformity.Due to the low incidence of SEDC,there are only a few case reports regarding the surgical treatment of SEDC complicated with spinal deformities.CASE SUMMARY We report a case of a 16-year-old male patient with SEDC.He presented with typical short stature,atlantoaxial dysplasia,scoliosis,and hip dysplasia.Cervical magnetic resonance imaging showed spinal canal stenosis at the atlas level and cervical spinal cord compression with myelopathy.The scoliosis was a right thoracic curve with a Cobb angle of 65°.He underwent atlantoaxial reduction,decompression,and internal fixation from C1–C2 to relieve cervical myelopathy.Three months after cervical surgery,posterior correction surgery for scoliosis was performed from T3 to L4.Scoliosis was corrected from 66°to 8°and remained stable at 2-year follow-up.CONCLUSION This is the first case report of a patient with SEDC who successfully underwent surgery for atlantoaxial dysplasia and scoliosis.The study provides an important reference for the surgical treatment of SEDC complicated with spinal deformities.

Malignant syphilis accompanied with neurosyphilis in a malnourished patient: A case report

BACKGROUND Syphilis is a common sexually transmitted disease caused by the Treponema pallidum (T.pallidum).Malignant syphilis is a rare presentation of secondary syphilis.Here,we present a case diagnosed with malignant syphilis accompanied with neurosyphilis.CASE SUMMARY A 56-year-old man present with a 2-mo history of spreading ulcerous and necrotic papules and nodules covered with thick crusts over the face,trunk,extremities,and genitalia.The patient was diagnosed with malignant syphilis accompanied by neurosyphilis based on the characteristic morphology of the lesions,positive serological and cerebrospinal fluid tests for syphilis,brain magnetic resonance imaging,and histopathology,along with resolution of the lesions following the institution of penicillin therapy.The lesions and neurological condition successfully resolved after a course of treatment with penicillin.CONCLUSION We suggest that neurosyphilis should be considered whenever people have psychiatric symptoms without cutaneous lesions or human immunodeficiency virus.

Associations of toluidine red unheated serum test response to the treatment of syphilis in pregnancy and congenital syphilis: a 10-year real-world study

Background: So far, there is a paucity of real-world data on the syphilis serological responses to the first-line treatment during pregnancy, and there is no relevant study on the necessity of anti-syphilis treatment during pregnancy for those patients who have been treated for syphilis before pregnancy for the prevention of mother-to-child transmission, which might provide valuable insight into treatment effectiveness and optimal management of pregnant women with syphilis.Methods: A retrospective study on 10 years of real-world data was performed for accumulative 410 Chinese pregnant women with syphilis. The descriptive statistics were conducted in the study, and toluidine red unheated serum test (TRUST) titer responses to penicillin treatment in syphilis-infected pregnant women, and the associations with congenital syphilis were investigated. We divided the patients into two groups according to the history of anti-syphilis treatment before pregnancy (patients diagnosed with syphilis who had received anti-syphilis treatment before pregnancy, and patients screened and diagnosed with syphilis during pregnancy who had no previous history of anti-syphilis treatment).Results: The rate of congenital syphilis in this study was 6.2% (25/406). There was no significant difference in the rate of congenital syphilis between patients who received anti-syphilis treatment before pregnancy and those who did not. Secondary syphilis and high baseline serum TRUST titer (≥1:8) in pregnant women were independent risk factors for congenital syphilis.Conclusions: For the prevention of congenital syphilis, anti-syphilis treatment during pregnancy for syphilis seropositive pregnant women is needed, regardless of whether the patient has received anti-syphilis treatment before pregnancy, especially for those patients with secondary syphilis or high baseline serum TRUST titer, thus, timely surveillance, early diagnosis to timely treatment, and close syphilis reexamination during posttreatment follow-up, may help to reduce the above-mentioned risk factors for congenital syphilis.

Evaluation of the immunochromatographic strip test for the rapid diagnosis of antenatal syphilis in women in Eldoret,Kenya

Objective： This study compared the performance of the immunochromatographic strip （ICS） to the Venereal Disease Research Laboratory （VDRL） test and Treponema pallidum haemagglutination assay （TPHA） at a primary health care setting. Methods： The study group was comprised of 150 females randomly drawn from a population of pregnant women attending their first antenatal visit or follow-up visits at West Maternity Hospital in Eldoret Kenya, but without a previous syphilis test during that pregnancy. On-site VDRL, ICS and TPHA tests were performed and immediate treatment provided where appropriate. The performance of the three tests was compared, Results： The sero-prevalence of syphilis as determined by the VDRL test was 3%. There was no significant difference between the ICS and the VDRL test （P 〉 0.05）. The sensitivity and specificity of the ICS test were 80% and 98.6% respectively, while the negative predictive value （NPV） and positive predictive value （PPV） were both 100%. On the other hand, the sensitivity and specificity of the VDRL test were 66.7% and 99.3%, while the NPV and PPV were 80% and 98.6% respectively. The Treponema pallidum haemagglutination assay was used as a reference test and had sensitivity, specificity, NPV and PPV of 100%. Conclusion： The diagnostic accuracy of the ICS compared favorably with theVDRL gold standard. The use of the ICS in Kenya can improve the diagnosis of syphilis in health facilities both with and without laboratories and allow community health care workers to make a rapid diagnosis of the disease, and consequently make immediate therapeutic decisions.

Ocular syphilis resurgence in an urban underserved community in the United States

AIM:To evaluate the clinical characteristics,demographics,and visual outcomes of patients with ocular syphilis at an urban hospital to increase awareness and assist in earlier diagnosis and treatment of the resurgent disease.METHODS:A retrospective chart review was performed on patients with ICD-9 and ICD-10 diagnosis codes correlating with syphilis or syphilis-related ocular diseases between 2010 and 2019.Variables evaluated included age,gender,race,vision,ocular findings,human immunodeficiency virus(HIV)status and men who have sex with men status,recreational drug and alcohol use.RESULTS:Ocular syphilis was diagnosed in 40 patients(53 eyes)of a total of 229 patients who tested positive for syphilis via serum and/or cerebrospinal fluid treponemal testing from 2010-2019.Among patients with ocular syphilis,most patients were males,aged 45 or above and Black,and had no diagnosed HIV infection.Approximately 50%patients had 20/40 vision or better.Nearly 50%had nongranulomatous anterior uveitis as their initial presentation,and 49%of patients had involvement of the posterior segment.Neovascular glaucoma(5.7%),papillitis(7.5%),vasculitis(5.7%),and retinal detachment(5.7%)were rarer presentations of the disease and were associated with a poorer visual prognosis.CONCLUSION:Given the increased prevalence and protean manifestations of syphilis,early diagnosis and treatment are paramount.More studies on ocular syphilis are warranted to understand this resurging disease.

Prevalence and factors associated with non-adherence to therapy among partners of pregnant women with syphilis in a city of northeastern Brazil

BACKGROUND One of the main difficulties faced in the prevention of the vertical transmission of syphilis is the inadequate treatment of pregnant women and their partners.The disease causes serious repercussions in infected newborns.AIM To evaluate the prevalence and factors associated with the therapeutic adhesion among partners of pregnant women with syphilis in a county in Northeastern Brazil.METHODS This is a descriptive,analytic,quantitative,cross-sectional study that was carried out through interviews with 46 pregnant women diagnosed with syphilis between 2017 and 2018 as well as with their partners.The interviews aimed at collecting data regarding sociodemographic characteristics,obstetric variables and information about syphilis,and partners’related variables.RESULTS Our results showed that 73.91%of the partners did not undergo appropriate treatments,and obtaining negative results in syphilis tests was the main reason for the absence of therapies.The following factors were significantly associated with the lack of treatment among partners:Being a partner that is not the current mate of the pregnant woman,having a level of schooling inferior to 8 years[oddsratio(OR)=10.28],and the pregnant woman undergoing up to two syphilis tests during the prenatal care(OR=8.6).The study found a higher odds of absent treatment among partners if the pregnant woman is not white(OR=13.88)or if the partner has less than 8 years of schooling(OR=21.00)or has a monthly income of less than half the minimum wage(OR=13.93).CONCLUSION The findings of this study show a high prevalence of partners that are not adequately treated for syphilis,a phenomenon that is strongly associated with socioeconomic factors.

Hakim-Adams syndrome secondary to syphilis

Normal pressure hydrocephalus (NPH) secondary to syphilis is an atypical form of neurosyphilis with an unusual clinical presentation and uncommon neuroimaging findings. A case of Syndrome de Hakim-Adams occurring in a 79-year-old male was admitted for investigation of a dementia syndrome. The patient presented with clinical features and neuroimaging compatible with NPH. Syphilis serology was reactive and compatible with active disease. The patient was treated with crystalline penicillin (4 million units every 4 hours for 21 days) and was assessed again after three months, when his cognition and gait had improved and the urinary incontinence had resolved. According to this information, we describe a case of syphilis mimicking normal pressure hydrocephalus, making clear the importance of the investigation of sexually transmitted diseases in the differential diagnosis of dementia, even in patients without established risk supposedly.

A Case of Coexistence of Aplasia Cutis Congenita and Giant Congenital Melanocytic Nevus:Coexistence of Two Rare Skin Diseases

Aplasia cutis congenita(ACC)is a rare disease that is characterized by complete or partial absence of skin at birth,either in a localized or widespread region.Melanocytic nevi refers to tumor-like malformations of the skin or mucous membrane caused by benign proliferation of melanocytes.It is classified as a giant congenital melanocytic nevus(GCMN)when the diameter of the largest nevus exceeds 20 cm.The co-occurrence of ACC and GCMN is extremely rare,to the best of our knowledge.We report a case of coexistence of ACC and GCMN of infancy in a 2-month-old male infant.The lesions consisted of a large hyperpigmented plaque occupying most of the trunk and pelvic region,and smaller hyperpigmented plaques on the trunk,head,and extremities.Additionally,there were large,sharply marginated,triangular,depressed atrophic plaques covered by thin,translucent,glistening epithelial membranes in the center of the GCMN on the back.The presumptive diagnosis was coexistence of GCMN and ACC.This could be a manifestation of SCALP syndrome,a rare neuro-cutaneous condition characterized by the presence of Sebaceous nevus,Central nervous system(CNS)malformations,Aplasia cutis congenita,Limbal dermoid and Pigmented(giant melanocytic)nevus.

Hepatitis C virus infection and biological falsepositive syphilis test:a single-center experience

BACKGROUND:Rapid plasma regain positive and/or treponema pallidum hemagglutination negative [RPR(+)/TPHA(-)] results were designated as biologic false-positive (BFP).There are limited data about BFP reactions against syphilis in patients with hepatitis C virus (HCV) infection.This study aimed to determine the prevalence of BFP reactions for syphilis in patients with HCV infection in a large sample and assess the relationship between BFP reactions and HCV infection.METHODS:A total of 2656 patients with positive anti-HCV and 5600 healthy control subjects were enrolled in this study.Hepatitis C serology was determined by a second generation ELISA test for HCV antibody.Syphilis serology was determined by the RPR test.Those subjects with reactive RPR positive underwent the TPHA test.Demographics and laboratory data were collected by trained clinicians.RESULTS:Among 2656 patients,111 (4.2%) had a reactive RPR test.Of the 111 patients who were subjected to reactive RPR test,30 (27.0%) showed HCV(+)/RPR(+).Of 5600 healthy controls,80 (1.4%) had a reactive RPR test.Fourteen (17.5%) controls with HCV(-)/RPR(+) had a non-reactive TPHA test.These represented 1.1% of all HCV-positive and 0.3% of all HCV-negative subjects (P<0.001).A significantly increased prevalence shown by false-positive tests for syphilis was observed in elderly HCV-seropositive patients.BFP-HCV positive group had a higher prevalence of eosinophilia.The eosinophil abnormality was compared between the patients and controls (66.7% vs 21.4%,P=0.0043).No significant results were observed in antinuclear antibodies,antiphospholipid and complement (C3,C4) (P>0.05).CONCLUSIONS:The data of this study demonstrate that HCV infection is associated with a false-positive RPR test.In this study BFPs were significantly more common in HCV positive patients compared to HCV-negative ones.Eosinophil abnormality can be considered as a predictor for BFP.Excessive BFPs must be considered in assessing the frequency of syphilis in a HCV-positive population and the importance of the treponemal specific serologic test should be emphasized for a diagnosis of syphilis in such population.

Tertiary syphilis mimicking hepatic metastases of underlying primary peritoneal serous carcinoma

Tertiary syphilis,especially in cases involving visceral gummatous disease,can be confused with cancer of the solid organs.We report a case of tertiary hepatic syphilis that manifested with intrahepatic masses in a patient who had an underlying primary peritoneal serous carcinoma (PPSC).The patient was diagnosed with PPSC and achieved a complete remission of PPSC following six cycles of platinum-based chemotherapy.Two hepatic nodules developed during the follow-up period and were initially labeled as hepatic metastases from the underlying PPSC,based on radiological findings.A resection of hepatic nodules was performed for therapeutic and diagnostic purposes,because there were no other metastatic foci except in the liver.Unex-pectedly,serology and histology confirmed tertiary sy philis.This rare case emphasizes the importance of including tertiary syphilis in the differential diagnosis of a space-occupying lesion,even with an existing diagn osis of underlying cancer.

Clinical characteristics of myotonia congenita in China Literature analysis of the past 30 years

AIM： To understand the distinct, clinical features of myotonia congenita in China. METHODS： Case reports of myotonia congenita were retrieved from the Chinese Journal Full-text database, dating between 1980 and 2007, and analyzed for clinical characteristics of myotonia congenita. RESULTS： There were 35 published reports and 258 cases about myotonia congenita. Six reports （62 cases） were excluded due to lack of clinical data, imprecise diagnosis, or duplication. Finally, 29 published reports and 196 cases （140 males and 56 females） were included in this analysis. About 78.6% of patients were diagnosed with myotonia congenita before the age of 20, and among these, 86.1% were classified as dominant inheritance. Lower and upper extremities were frequently affected with severe symptoms. Eyelids, mouth and lingual muscles, and trunk muscles and cervical muscles were less frequently involved. However, muscles for swallowing, sphincter muscles, and smooth muscles were not involved. There were no reports of cataracts, cardiac conduction block, or dyscrinism. myotonia congenita symptoms were induced or aggravated by cold temperatures in 71.9% of the patients and warming-up effect occurred in 95.6% of the patients. Muscle hypertrophy was observed in 69.6% and percussion of muscles in 76.5% of the patients. Myotonia potential or myotonia-like potential was detected in all patients using electromyography. Muscle fiber swelling or hypertrophy was frequently detected through muscular biopsy. CONCLUSION： Myotonia congenita frequently occurs in males before the age of 20, in particular as the autosomal dominant form of myotonia congenita. Skeletal muscles throughout the body, especially the lower and upper extremities, are involved. However, muscles for swallowing, sphincter muscles, and smooth muscles are not involved. Warming-up effect is the main characteristic of myotonia congenita.

Eliminating Mother-to-Child Transmission of Syphilis: Chinese Practice before and during COVID-19 Pandemics

Mother-to-child transmission(MTCT)of syphilis remains a leading cause of stillbirth and death among neonates in many developing countries.In 2007,World Health Orgernization launched the global elimination of MTCT(EMTCT)of syphilis.Given the high burden of congenital syphilis,China subsequently released the specific national EMTCT policies and programs to reduce MTCT of syphilis.The congenital syphilis incidence rate per 100,000 live births in China has markedly decreased from 69.9 in 2013 to 11.9 in 2019.However,due to the global pandemic of COVID-19,the current measures for eliminating MTCT of syphilis are greatly challenged.In this article,we summarize the strategies and measures for the EMTCT of syphilis in China in the past 20 years,the remarkable achievements by the policy support under the leadership of the government.In the context of COVID-19 pandemics,strengthening emergency response to the regional outbreaks of COVID-19,adopting safe,rapid,early and high-quality clinical care for 100%of pregnant women to receive prenatal syphilis testing services,ensuring the availability of Benzathine penicillin for the treatment,and strengthening the closed-loop management of pregnant women and newborns infected with syphilis are the key measures to determine the effectiveness of MTCT for syphilis.Lessons from China may be valuable for other countries that are planning to eliminate MTCT of syphilis.

Ocular syphilis: resurgence of an old disease in modern Malaysian society

Dear Editor,Syphilis is a spirochaetal bacterial sexually transmitted disease（STD） caused by Treponema pallidum. Outbreaks of syphilis have been described in Western communities, especially in men who have sex with men（MSM） and people infected with human immunodeficiency virus（HIV）^（[1]）. Reports of the condition from Asian countries remains limited.

A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia

X-linked congenital adrenal hypoplasia is characterised by the acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism(HH)at puberty,arising from mutations of the nuclear receptor subfamily 0 group B member 1(NR0B1)gene.This study investigated an extended family with two affected males(patient A:23 years and patient B:2 months old)and three carrier females.Sequencing analysis of the NR0B1 gene coding region from the family revealed a novel hemizygous deletion[c.604delT;p.(C202Afs*62)]in the two male patients.Furthermore,the patients'respective mothers and their common grandmother had this heterozygous mutation,but it was not present in the Human Gene Mutation Database.The two male patients showed inconsistent clinical features at onset,particularly in early childhood;however,it is possible that the younger patient will eventually show a delay of puberty,feminisation,and nonspermatogenesis in adulthood,similar to that in the older patient.Identification of a novel NR0BI mutation in this family is important for the diagnosis and genetic counselling of children with primary adrenal insufficiency and HH,and will be helpful for predicting long-term clinical symptoms.

Anti-N-methyl-D-aspartate-receptor antibody encephalitis combined with syphilis:A case report

BACKGROUND Anti-N-methyl-D-aspartate-receptor(NMDAR)encephalitis is a common type of autoimmune encephalitis characterized by complex clinical signs and variable imaging manifestations.The pathogenesis of the disease is unclear.Syphilis is an infectious disease caused by Treponema pallidum that can invade the nervous and immune systems and cause systemic symptoms.There are few reports of anti-NMDAR encephalitis with syphilis,and the association between them is unknown;both diseases are related to immune system damage.We report a case of anti-NMDAR encephalitis with syphilis.CASE SUMMARY A 32-year-old man was admitted to our hospital with complaints of cognitive decline,diplopia,and walking instability during the previous 6 mo.He developed dysarthria,difficulty swallowing,and involuntary shaking of his head,neck,and limbs during the month prior to presentation.Cranial magnetic resonance imaging showed symmetrical abnormal signals in the pons,midbrain,and bilateral basal ganglia,and inflammatory demyelination was considered.The diagnosis of syphilis was confirmed based on the syphilis diagnosis test and the syphilis rapid test.He was given anti-syphilis treatment,but the above symptoms gradually worsened.Anti-NMDAR antibody was positive in cerebrospinal fluid but was negative in serum.Due to the cerebrospinal fluid findings,anti-NMDAR encephalitis was a consideration.According to the patient’s weight,he was treated with intravenous methylprednisolone 1 g QD for 5 d,with the dose gradually decreased for 6 mo,and immunoglobulin 25 g QD for 5 d;his symptoms improved after treatment.CONCLUSION This case shows that anti-NMDAR encephalitis may be combined with syphilis,which should be recognized to avoid misdiagnosis and treatment delay.