OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with anomalies of the central nervous system (CNS) and summarize the outcome of the pregnancies and follow-up. METHODS: A total of 636 fetuses from June 2014 to December 2020 who were referred to the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital due to abnormal CNS prompted by ultrasound were selected as the research subjects. Based on the ultrasound findings, the fetuses were divided into ventricular dilatation group (n = 441), choroid plexus cyst group (n = 41), enlarged posterior fossa group (n = 42), holoprosencephaly group (n = 15), corpus callosum hypoplasia group (n = 22), and other anomaly group (n = 75). Meanwhile, they were also divided into isolated (n = 504) and non-isolated (n = 132) groups based on the presence of additional abnormalities. Prenatal samples (amniotic fluid/chorionic villi/umbilical cord blood) or abortus tissue were collected for the extraction of genomic DNA and CMA assay. Outcome of the pregnancies and postnatal follow-up were summarized and subjected to statistical analysis. RESULTS: In total 636 fetuses with CNS anomalies (including 89 abortus tissues) were included, and 547 cases were followed up. The overall detection rate of CMA was 11.48% (73/636). The detection rates for the holoprosencephaly group, ACC group, choroid plexus cyst group, enlarged posterior fossa group, ventricular dilatation group and other anomaly group were 80% (12/15), 31.82% (7/22), 19.51% (8/41), 14.29% (6/42), 7.48% (33/441) and 9.33% (7/75), respectively. Compared with the isolated CNS anomaly group, the detection rate for the non-isolated CNS anomaly group was significantly higher (6.35% vs. 31.06%) (32/504 vs. 41/132) (χ² = 62.867, P < 0.001). Follow up showed that, for 52 fetuses with abnormal CMA results, 51 couples have opted induced labor, whilst 1 was delivered at full term with normal growth and development. Of the 434 fetuses with normal CMA results, 377 were delivered at full term (6 had developmental delay), and 57 couples had opted induced labor. The rate of adverse pregnancy outcome for non-isolated CNS abnormal fetuses was significantly higher than that of isolated CNS abnormal fetuses (26.56% vs. 10.54%) (17/64 vs. 39/370) (χ² = 12.463, P < 0.001). CONCLUSION Fetuses with CNS anomaly should be tested with CMA to determine the genetic cause. Most fetuses with negative CMA result have a good prognosis, but there is still a possibility for a abnormal neurological phenotype. Fetuses with CNS abnormalities in conjunct with other structural abnormalities are at increased risk for adverse pregnancy outcomes.
Female ; Pregnancy ; Humans ; Holoprosencephaly ; Prenatal Diagnosis/methods* ; Central Nervous System ; Fetus/abnormalities* ; Nervous System Malformations/genetics* ; Microarray Analysis ; Central Nervous System Diseases ; Cysts ; Chromosome Aberrations ; Ultrasonography, Prenatal/methods*

Objective To analyze the disease spectrum and clinicopathological characteristics of central nervous system(CNS)diseases diagnosed based on pathological findings in Tibet. Methods We collected the data of all the cases with CNS lesions in Tibet Autonomous Region People's Hospital from January 2013 to December 2020.The clinicopathological features were analyzed via light microscopy,immunohistochemical staining,and special staining. Results A total of 383 CNS cases confirmed by pathological diagnosis were enrolled in this study,with a male-to-female ratio of 188∶195 and an average age of(40.03±17.39)years(0-74 years).Among them,127(33.2%)cases had non-neoplastic diseases,with a male-to-female ratio of 82∶45 and an average age of(31.99±19.29)years;256(66.8%)cases had neoplastic diseases,with a male-to-female ratio of 106∶150 and an average age of(44.01±14.87)years.The main non-neoplastic diseases were nervous system infectious diseases,cerebral vascular diseases,meningocele,cerebral cyst,and brain trauma.Among the infectious diseases,brain abscess,granulomatous inflammation,cysticercosis,and hydatidosis were common.The main neoplastic diseases included meningioma,pituitary adenoma,neuroepithelial tumor,schwannoma,metastatic tumor,and hemangioblastoma.The meningioma cases consisted of 95.4%(103/108)cases of grade Ⅰ,3.7%(4/108)cases of grade Ⅱ,and only 1(1/108,0.9%)case of grade Ⅲ.Among the neuroepithelial tumor cases,the top three were glioblastoma,grade Ⅲ diffuse glioma,and ependymoma. Conclusions There are diverse CNS diseases confirmed by pathological diagnosis in Tibet,among which non-neoplastic diseases account for 1/3 of all the cases.Infectious and vascular diseases are the most common non-neoplastic diseases in Tibet,and tuberculosis and parasitic infections are relatively common.The types and proportion of brain tumors in Tibet are different from those in other regions of China,and meningioma is the most common in Tibet,with higher proportion than neuroepithelial tumor.
Adolescent ; Adult ; Aged ; Brain Neoplasms/diagnosis* ; Central Nervous System Diseases/pathology* ; Child ; Child, Preschool ; Ependymoma ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Meningeal Neoplasms ; Middle Aged ; Retrospective Studies ; Tibet/epidemiology* ; Young Adult

PURPOSE: Fat embolism syndrome (FES) is systemic manifestation of fat emboli in the circulation seen mostly after long bone fractures. FES is considered a lethal complication of trauma. There are various case reports and series describing FES. Here we describe the clinical characteristics, management in ICU and outcome of these patients in level I trauma center in a span of 6 months. METHODS: In this prospective study, analysis of all the patients with FES admitted in our polytrauma intensive care unit (ICU) of level I trauma center over a period of 6 months (from August 2017 to January 2018) was done. Demographic data, clinical features, management in ICU and outcome were analyzed. RESULTS: We admitted 10 cases of FES. The mean age of patients was 31.2 years. The mean duration from time of injury to onset of symptoms was 56 h. All patients presented with hypoxemia and petechiae but central nervous system symptoms were present in 70% of patients. The mean duration of mechanical ventilation was 11.7 days and the mean length of ICU stay was 14.7 days. There was excellent recovery among patients with no neurological deficit. CONCLUSION FES is considered a lethal complication of trauma but timely management can result in favorable outcome. FES can occur even after fixation of the fracture. Hypoxia is the most common and earliest feature of FES followed by CNS manifestations. Any patient presenting with such symptoms should raise the suspicion of FES and mandate early ICU referral.
Adolescent ; Adult ; Central Nervous System Diseases ; etiology ; Early Diagnosis ; Embolism, Fat ; diagnosis ; etiology ; prevention & control ; Fractures, Bone ; complications ; Humans ; Hypoxia ; etiology ; Intensive Care Units ; statistics & numerical data ; Length of Stay ; statistics & numerical data ; Male ; Patient Outcome Assessment ; Time Factors ; Trauma Centers ; statistics & numerical data ; Young Adult

Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory demyelinating autoimmune disease of central nervous system characterized by relapsing attacks that target the optic nerves and spinal cord, as well as aquaporin-4 (AQP4) enriched periventricular brain regions. The area postrema (AP), located in the dorsal medulla, is the chemosensitive vomiting center and has high AQP-4 expression. The AP syndrome with unexplained hiccups, nausea, and vomiting is one of the core clinical characteristics in the NMOSD and maybe the first presenting symptom. We experienced a 25-year-old woman presented with intractable vomiting, dizziness and oscillopsia. Upbeat nystagmus detected on the bedside examination led to comprehensive neurological workups including magnetic resonance imaging, and she was diagnosed as the AP syndrome. Ten months later, she experienced a recurrence as a longitudinally extensive transverse myelitis and the diagnosis was finally compatible with NMOSD without AQP4-IgG. NMOSD, especially the AP syndrome, should be considered in any dizzy patient with intractable vomiting, and detailed neuro-otologic and neuro-ophthalmologic examinations are warranted for the correct diagnosis.
Adult ; Area Postrema ; Autoimmune Diseases ; Brain ; Central Nervous System ; Diagnosis ; Dizziness ; Female ; Hiccup ; Humans ; Magnetic Resonance Imaging ; Myelitis, Transverse ; Nausea ; Neuromyelitis Optica ; Nystagmus, Pathologic ; Optic Nerve ; Recurrence ; Spinal Cord ; Vomiting

Primary amenorrhea is a symptom with a substantial list of underlying etiologies which presents in adolescence, although some conditions are diagnosed in childhood. Primary amenorrhea is defined as not having menarche until 15 years of age (or 13 years with secondary sex characteristics). Various etiologies of primary amenorrhea include outflow tract obstructions, gonadal dysgenesis, abnormalities of the central nervous system, various endocrine diseases, chronic illnesses, psychologic problems, and constitutional delay of puberty. The management of primary amenorrhea may vary considerably depending on the patient and the specific diagnosis. In this article, the various causes, evaluation, and management of primary amenorrhea are reviewed with special emphasis on congenital sex hormonal disorders.
Adolescent ; Amenorrhea ; Central Nervous System ; Chronic Disease ; Diagnosis ; Endocrine System Diseases ; Female ; Gonadal Dysgenesis ; Humans ; Menarche ; Puberty

Cysticercosis, a parasitic disease caused by Taenia solium metacestode (TsM), has a major global public health impact in terms of disability-adjusted life years. The parasite preferentially infects subcutaneous tissue, but may invade the central nervous system, resulting in neurocysticercosis (NC). NC is an important neglected tropical disease and an emerging disease in industrialized countries due to immigration from endemic areas. The prevalence of taeniasis in Korea declined from 0.3%–12.7% during the 1970s to below 0.02% since the 2000s. A survey conducted from 1993 to 2006 revealed that the percentage of tested samples with high levels of specific anti-TsM antibody declined from 8.3% to 2.2%, suggesting the continuing occurrence of NC in Korea. Modern imaging modalities have substantially improved the diagnostic accuracy of NC, and recent advances in the molecular biochemical characterization of the TsM cyst fluid proteome also significantly strengthened NC serodiagnosis. Two glycoproteins of 150 and 120 kDa that induce strong antibody responses against sera from patients with active-stage NC have been elucidated. The 150 kDa protein showed hydrophobic-ligand binding activities and might be critically involved in the acquisition of host-derived lipid molecules. Fasciclin and endophilin B1, both of which play roles in the homeostatic functions of TsM, showed fairly high antibody responses against calcified NC cases. NC is now controllable and manageable. Further studies should focus on controlling late-onset intractable seizures and serological diagnosis of NC patients infected with few worms. This article briefly overviews diagnostic approaches and discusses current issues relating to NC serodiagnosis.
Antibody Formation ; Central Nervous System ; Cyst Fluid ; Cysticercosis ; Developed Countries ; Diagnosis ; Emigration and Immigration ; Glycoproteins ; Humans ; Immunologic Tests ; Korea ; Neurocysticercosis ; Parasites ; Parasitic Diseases ; Prevalence ; Proteome ; Public Health ; Republic of Korea ; Seizures ; Serologic Tests ; Subcutaneous Tissue ; Taenia solium ; Taenia ; Taeniasis

PURPOSE: The aims of the present study are to determine the outcomes after acute aortic occlusion (AAO) and analyze the risk factors for in-hospital mortality. MATERIALS AND METHODS: We retrospectively analyzed 24 patients who were diagnosed with AAO from 2002 to 2017 in our registered data. Demographic and radiologic characteristics of AAOs were retrospectively collected. Perioperative treatment outcomes including in-hospital mortality were also assessed and the risk factors of in-hospital mortality were analyzed. RESULTS: The median symptom duration was 21 hours. Five patients had complete paraplegia and 10 patients (41.7%) were initially evaluated for central nervous system disorders instead of acute arterial occlusion. The etiology was determined to be aortoiliac thrombosis in 17 patients (70.8%) and embolic occlusion in 7. Surgical revascularization was performed in 23 patients, and one patient did not receive any treatment. The overall in-hospital mortality was 34.8% (8/23) and 30-day mortality was 26.1%. In the univariate analysis, age (P=0.040), preoperative renal insufficiency (serum creatinine over 1.5 mg/dL at the time of presentation) (P=0.008), postoperative acute kidney injury (need for dialysis or an increase in serum creatinine of >50.0% within 48 hours) (P=0.006), combined external iliac artery occlusion (P=0.019) and combined bilateral internal iliac artery occlusion (P=0.039) were associated with in-hospital mortality. CONCLUSION: A substantial number of AAO patients were initially evaluated for a central nervous system lesion, which led to a delay in diagnosis. Thus, vascular examinations should always be performed in every patient presenting with lower limb neurologic deficits. Age, perioperative renal function, and combined iliac artery occlusion were associated with the prognosis of AAOs.
Acute Kidney Injury ; Aorta, Abdominal ; Central Nervous System ; Central Nervous System Diseases ; Creatinine ; Diagnosis ; Dialysis ; Embolism ; Hospital Mortality ; Humans ; Iliac Artery ; Lower Extremity ; Mortality ; Neurologic Manifestations ; Paraplegia ; Prognosis ; Renal Insufficiency ; Retrospective Studies ; Risk Factors ; Thrombosis

Central Nervous System Diseases ; etiology ; Child ; Female ; Humans ; Infant ; Lymphohistiocytosis, Hemophagocytic ; complications ; diagnosis ; genetics ; Magnetic Resonance Imaging ; Male ; Mutation ; Perforin ; genetics

BACKGROUND: Organic solvent-induced chronic toxic encephalopathy (CTE) is known as a non-progressive disorder that does not progress after diagnosis. The authors present a case those symptoms worsened after continued exposure to organic solvent after returning to work. Because such a case has not been reported in South Korea to the best of our knowledge, we intend to report this case along with literature review. CASE PRESENTATION: A 59-year-old man, who performed painting job at a large shipyard for 20 years, was receiving hospital treatment mainly for depression. During the inpatient treatment, severe cognitive impairment was identified, and he visited the occupational and environmental medicine outpatient clinic for assessing work relatedness. In 1984, at the age of 27, he began performing touch-up and spray painting as a shipyard painter. Before that he had not been exposure to any neurotoxic substances. In 2001, at the age of 44, after 15 years of exposure to mixed solvents including toluene, xylene and others, he was diagnosed with CTE International Solvent Workshop (ISW) type 2A. After 7 years of sick leave, he returned to work in 2006. And he repeated return-to-work and sick leave in the same job due to worsening of depressive symptoms. He had worked four times (2006–2010, 2011–2011, 2011–2011, 2016–2017) for a total of 5 years as a shipyard painter after first compensation. During the return-to-work period, the mean values of the mixed solvent index ranged from 0.57 to 2.15, and except for a one semiannual period, all mean values were above the standard value of 1. We excluded other diseases that can cause cognitive impairment like central nervous system diseases, brain injury, psychological diseases and metabolic diseases with physical examinations, laboratory tests, and brain image analysis. And finally, throughout neuropsychological tests, an overall deterioration in cognitive function was identified compared to 2002, and the deterioration types was similar to that often shown in the case of CTE; thus a diagnosis of CTE (ISW) type 3 was made. CONCLUSION: This case is showing that CTE can go on with continued exposure to mixed solvents. Appropriate “fitness to work” should be taken to prevent disease deterioration especially for the sick leave workers.
Ambulatory Care Facilities ; Brain ; Brain Injuries ; Central Nervous System Diseases ; Cognition ; Cognition Disorders ; Compensation and Redress ; Depression ; Diagnosis ; Education ; Environmental Medicine ; Humans ; Inpatients ; Korea ; Metabolic Diseases ; Middle Aged ; Neuropsychological Tests ; Neurotoxicity Syndromes ; Occupational Diseases ; Paint ; Paintings ; Physical Examination ; Return to Work ; Sick Leave ; Solvents ; Toluene ; Xylenes

Dural arteriovenous fistula (D-AVF) at the foramen magnum is an extremely rare disease entity. It produces venous hypertension, and can lead to progressive cervical myelopathy thereafter. On the other hand, the venous hypertension may lead to formation of a venous varix, and it can rarely result in an abrupt onset of subarachnoid hemorrhage (SAH) when the venous varix is ruptured. The diagnosis of D-AVF at the foramen magnum as a cause of SAH may be difficult due to its low incidence. Furthermore, when the D-AVF is fed solely by the ascending pharyngeal artery (APA), it may be missed if the external carotid angiography is not performed. The outcome could be fatal if the fistula is unrecognized. Herein, we report on a rare case of SAH caused by ruptured venous varix due to D-AVF at the foramen magnum fed solely by the APA. A review of relevant literatures is provided, and the treatment modalities and outcomes are also discussed.
Angiography ; Arteries* ; Central Nervous System Vascular Malformations* ; Diagnosis ; Fistula ; Foramen Magnum* ; Hand ; Hypertension ; Incidence ; Rare Diseases ; Spinal Cord Diseases ; Subarachnoid Hemorrhage* ; Varicose Veins*