Persistencia del cavum septum pellucidum y cavum vergae asociado a retraso psicomotor. Informe de caso

Fundamento: Dos de las tres formas en que se presentan los quistes intracraneales de la línea media anterior son: cavum septum pellucidum y cavum vergae; estos normalmente desaparecen después del nacimiento, de persistir suelen ser asintomáticos, pero también pueden estar asociados a manifestaciones obstructivas, trastornos psicóticos o alteraciones del neurodesarrollo que demandan de un seguimiento clínico. Objetivo: Reportar el caso de un paciente de 6 meses con persistencia de estructuras del periodo embrionario en posible asociación con retraso del desarrollo psicomotor. Presentación de caso: Por lo infrecuente que resulta en la práctica, se informa el caso de un paciente de 6 meses con una persistencia del cavum septum pellucidum y cavum vergae en el que se destaca la posible asociación del retraso del neurodesarrollo a la persistencia de estas estructuras. El diagnóstico se realizó de forma precoz y se intervino oportunamente. Conclusiones: La presentación del caso aportó evidencias epidemiológicas que favorecen la posible asociación entre la persistencia de estas estructuras embrionarias y el retraso del desarrollo psicomotor.

Background: Two out of the three forms in which intracranial anterior midline cysts present are: These usually disappear after birth; if they persist, they are often asymptomatic, but may also be associated with obstructive manifestations, psychotic disorders or neurodevelopmental disorders that require clinical follow up. Objective: To report a case of a 6-month-old patient with persistence of embryonic period structures in possible association with psychomotor developmental retardation. Case presentation: Because of how infrequent it is in practice, a case of a 6-month-old patient with a persistent cavum septum pellucidum and cavum vergae is reported in which the possible association of neurodevelopmental delay with the persistence of these structures is pointed out. The diagnosis was made in an early manner and it was timely intervened. Conclusions: The case presentation provided epidemiological evidences that encourage the possible association among the persistence of these embryonic structures and psychomotor developmental retardation.

Correlation of psychomotor retardation with plasma G-CSF and M-CSF levels in patients with major depressive disorder / 四川精神卫生

BackgroundThe etiopathogenesis of major depressive disorder （MDD） is strongly associated with neuroinflammation. MDD is a highly heterogeneous psychiatric disorder， and the disease subtyping is an essential step for the identification of biological markers. The presence of psychomotor retardation seriously affects the prognosis of MDD， whereas the underlying mechanism is not yet completely clear. A potential involvement of granulocyte colony-stimulating factor （G-CSF） and macrophage colony-stimulating factor （M-CSF） in the pathogenesis of MDD with psychomotor retardation has been suggested in previous studies， but little detailed research has been completed. ObjectiveTo analyze the correlation of plasma G-CSF and M-CSF levels with psychomotor retardation in patients with MDD， and to explore the potential biological underpinnings of psychomotor retardation in MDD. MethodsA total of 50 MDD patients who met the diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders， fifth edition （DSM-5） and attended the outpatient clinics of Shanghai Mental Health Center from April 2018 to April 2019 were included. The severity of symptoms was assessed using the Hamilton Depression Scale-17 item （HAMD-17）. According to the retardation factor in HAMD-17， patients with a score of ≥8 were included in retardation group （n=22）， and those with a score below 8 were included in non-retardation group （n=28）. Another 22 age- and sex-matched healthy controls were concurrently recruited. Plasma G-CSF and M-CSF levels were measured in all subjects using Luminex liquid suspension chip technology. Spearman correlation analysis was adopted to verify the correlation of retardation factor score in HAMD-17 with plasma G-CSF and M-CSF levels in MDD patients. ResultsPlasma G-CSF levels were decreased in MDD patients compared with healthy controls ［57.34（39.24， 83.15）pg/mL vs. 71.47（61.20， 79.99）pg/mL， Z=-2.098， P<0.05］. A statistical difference was found in plasma G-CSF level ［63.92（54.60， 89.43）pg/mL vs. 47.80（33.41， 74.66）pg/mL vs. 71.47（61.20， 79.99）pg/mL， H=8.247， P=0.016］ and plasma M-CSF level ［20.05（16.05， 22.23）pg/mL vs. 13.05（11.43， 17.50）pg/mL vs. 18.95（14.59， 22.88）pg/mL， H=7.620， P=0.022］ among retardation group， non-retardation group and healthy control group. The post hoc pairwise comparisons using Bonferroni correction indicated that plasma G-CSF level was lower in non-retardation group compared with healthy control group （adjusted P<0.05）， and plasma M-CSF level was higher in retardation group compared with non-retardation group （adjusted P<0.05）. The retardation factor score in HAMD-17 was positively correlated with plasma M-CSF level in MDD patients （r=0.348， P<0.05）. ConclusionThe prevalence of psychomotor retardation in MDD patients may be related to abnormally elevated plasma M-CSF level. ［Funded by Shanghai "Science and Technology Innovation Action Plan" Project in Medical Innovation Research Field （number， 21Y11905600）； Shanghai "Science and Technology Innovation Action Plan" Project in Natural Science Field （number， 21ZR1455100）； Shanghai Mental Health Center Scientific Research Project （number， 2021-YJ02）］

A case of brain-lung-thyroid syndrome / 中南大学学报(医学版)

Brain-lung-thyroid syndrome is a rare autosomal dominant disorder. More than 100 cases have been reported worldwide, but few cases have been reported in China. In December 2018, a boy with brain-lung-thyroid syndrome, aged 3 years and 10 months, was admitted to Xiangya Hospital of Central South University due to repeated cough for more than 3 years. In infancy of the boy, psychomotor retardation, repeated cough, and hypothyroidism were found. Gene detection showed that there was c.927delc heterozygous variation in NKX2-1 gene (NM-001079668: exon3: c.927delC). The variation of this gene locus has not been reported in relevant literature so far, which indicates a new mutation. According to the above clinical manifestations and examination results, the boy was diagnosed as brain-lung-thyroid syndrome, which mainly characterized by nervous system disorders, accompanied by respiratory manifestations and hypothyroidism. The boy was treated with oral dopasehydrazine to relieve tremor and levothyroxine sodium tablets to relieve hypothyroidism. Anti-infection, atomization, rehabilitation training and other symptomatic supporting treatment were also administered. The boy's language and movement have improved, the thyroid hormone level is normal, and there are still repeated respiratory tract infections.

Analysis of clinical phenotype and genotype of cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome caused by a novel variant of SNAP29 gene / 中华神经科杂志

Objective:To investigate the clinial phenotype and genetic characteristics of a child with cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma (CEDNIK) syndrome and to improve the clinicians′ understanding of this disease.Methods:Clinical data of the child with CEDNIK syndrome diagnosed in Department of Endocrinology, Genetics and Metabolism, Xi′an Children′s Hospital in June 2020 were collected. Whole exome sequencing was carried out to identify the potential variants of SNAP29 gene. Suspected variants were verified by Sanger sequencing of family numbers. The literature about the cases of CEDNIK syndrome were reviewed.Results:The proband is a boy, who was aged 1 year and 4 months, had the manifestations of psychomotor retardation, microcephaly, feeding difficulties, severe malnutrition, recurrent respiratory tract infection, binocular esotropia, sensorineural deafness, cutaneous ichthyosis and keratosis, left cryptorchidism. Brain magnetic resonance imaging indicated congenital dysplasia. Whole exome sequencing identified a homozygous variant of c.383dupT (p.E129Rfs *5) in the SNAP29 gene of the proband, and the heterozygous variation was observed at the same locus in his parents, which conformed to the autosomal recessive inheritance. This mutataion was determined as a pathogenic mutation according to the guidelines of American College of Medical Genetics and Genomics. Literature retrieval showed currently a total of 29 cases of CEDNIK syndrome were reported, containing 8 types of SNAP29 gene mutation. However, there was no Chinese case reported. And the c.383dupT (p.E129Rfs *5) mutation found in this study was a novel one which had not been reported yet. Conclusion:The phenotype of the proband is generally consistent with the CEDNIK syndrome and the novel c.383dupT (p.E129Rfs *5) mutation of SNAP29 gene is the genetic cause.

Sociodemographic and Maternal Risk Factors Associated with Psychomotor Retardation in Infants under Two Years Old in Tabasco / Factores de riesgo sociodemográficos y maternos asociados al retraso psicomotor en infantes menores de dos años en Tabasco / Fatores de risco sociodemográficos e maternos associados ao atraso psicomotor em crianças menores de dois anos em Tabasco

Abstract Introduction: Adequate psychomotor development during the first years of life significantly impacts the growth of each infant, so the timely detection of risk factors that affect this development is of vital importance. The objective was to determine sociodemographic and maternal factors associated with the presentation of psychomotor retardation in infants under two years old who attended the Centro de Rehabilitación y Educación Especial in Villahermosa (Tabasco, Mexico) in 2017. Materials and methods: An observational, retrospective study of cases and controls in infants under two years old. Data collection was performed using a questionnaire consisting of 45 questions, which included variables such as psychomotor retardation, prenatal, perinatal, and postnatal risk factors, that used Pearson's chi-square test and Fisher's exact test, with a significant correlation of p <.05 being accepted . Results: A low social class showed a significant relationship with psychomotor retardation (p =.000), while the presence of infections at a very young age in the newborn, a family history of psychomotor retardation, and a history of disease during pregnancy showed a value of p <.05. Conclusión: A low socioeconomic status, pregnancy-associated diseases such as malnutrition, high blood pressure, and traumatic accidents, as well as infectious diseases at birth were the main factors that conditioned psychomotor retardation.

Resumen Introducción: el adecuado desarrollo psicomotor en los primeros años de vida influye significativamente en el crecimiento de cada sujeto, por lo que la detección oportuna de factores de riesgo que lo afecten es de vital importancia. El objetivo fue determinar factores sociodemográficos y maternos asociados a la presentación del retraso psicomotor en infantes menores de dos años que acudieron al Centro de Rehabilitación y Educación Especial en Villahermosa (Tabasco, México) en el 2017. Materiales y métodos: estudio observacional, retrospectivo de casos y controles en infantes menores de dos años. Los datos se recolectaron mediante un cuestionario de 45 ítems, que incluyó variables como retraso psicomotor, factores de riesgo prenatales, perinatales y posnatales. Se emplearon las pruebas chi cuadrado de Pearson y la prueba exacta de Fisher. Se aceptó una correlación significativa de p<0.05. Resultados: el estrato social bajo mostró una relación significativa con el retraso psicomotor (p = 0.000), así como la presencia de infecciones a una edad muy temprana en el recién nacido, el historial de antecedente familiar y el antecedente de enfermedad en el embarazo (p<0.05). Conclusión: un estatus socioeconómico bajo, enfermedades asociadas al embarazo como malnutrición, hipertensión arterial y accidentes traumáticos, además de las enfermedades infecciosas al nacer, fueron los principales factores que condicionaron el retraso psicomotor.

Resumo Introdução: o adequado desenvolvimento psicomotor nos primeiros anos de vida impacta significativamente no crescimento de cada sujeito, pelo que a detecção oportuna de fatores de risco que o afetem é de vital importância. O objetivo foi determinar fatores sociodemográficos e maternos associados à apresentação do atraso psicomotor em crianças menores de dois anos que acorrem ao Centro de Reabilitação e Educação Especial em Villahermosa (Tabasco, México) em 2017. Materiais e métodos: estudo observa-cional, retrospectivo de casos e controles em crianças menores de dois anos. A recolecção de dados se realizou mediante um questionário de 45 itens o qual incluiu variáveis como atraso psicomotor, fatores de risco pré-natais, perinatais, e pós-natais, empregando as provas qui-quadrado de Pearson, prova exata de Fisher. Se aceitou uma correlação significativa de p<.05. Resultados: o estrato social baixo mostrou relação significativa com o atraso psicomotor (p=.000); também a presença de infeções a uma idade muito precoce no recém-nascido, o historial de antecedente familiar e antecedente de doença na gravidez (p<.05). Conclusão: o status socioeconómico baixo, doenças associadas à gravidez como subnutrição, hipertensão arterial e acidentes traumáticos, para além das doenças infeciosas ao nascer, foram os principais fatores que condicionaram o atraso psicomotor.

Combined Measures of Psychomotor and Cognitive Alterations as a Potential Hallmark for Bipolar Depression

OBJECTIVE: The current study aimed to examine whether specific features of psychomotor retardation (PMR) and cognitive functioning established different profiles in unipolar (UD) and bipolar depression (BD).METHODS: Two groups of age-matched patients with UD (n=54) and BD (n=20) completed the Montgomery-Asberg Depression Rating Scale (MADRS/60), the Montreal Cognitive Assessment (MoCA/30), and the Salpêtrière Retardation Rating Scale (SRRS/60). We analyzed the group effect and then performed intra-group analyses.RESULTS: The BD patients have higher SRRS score, and lower MoCA score than UD despite no difference on the level of depression between UD and BD. Our results show that PMR can be predicted by the level of depression in UD and by the cognitive alteration and onset of disease in BD.CONCLUSION: PMR is a relevant marker of depression. Our results highlight the importance of concomitant evaluation of psychomotor and cognitive functions in the distinction of UD and BD symptoms.

Hyperprolinemia Type IA: Benign Metabolic Anomaly or a Trigger for Brain Dysfunction?

Abstract Objective: Hyperprolinemia type I (HPI) is a rare and inherited autosomal recessive disorder caused by proline oxidase deficiency. Hyperprolinemia type 1 is biochemically defined as high plasma proline levels without urinary ?-1-pyrroline-5-carboxylate excretion. Hyperprolinemia type 1 has been considered a benign metabolic disorder, but a relationship with neurological disorders has recently been suggested. Study Design: We retrospectively analyzed plasma amino acid values obtained by amino acid analysis from 10 030 children admitted for neurological reasons during the years 1996 to 2010 at the Regional Sicilian Centre for Metabolic Diseases. Patients with proline levels above the normal range of 129 to 245 ?M were identified. Results: Only 2 children showed high levels of proline (450-480 ?M and 380-470 ?M, respectively), but their disorders (tubercular neuroencephalitis and progressive mitochondrial encephalopathy) did not seem to be related to hyperprolinemia as a causative factor. Conclusion: The question of HPI as benign metabolic anomaly or as a direct cause of brain damage is still open. Since HPI is rare, other observations on this regard are necessary.

Lowe syndrome with novel OCRL mutations in Chinese children:report of two cases / 临床儿科杂志

Objective To study the clinical and genetic features of Lowe syndrome. Methods The clinical data and test results of OCRL gene from two children with Lowe syndrome were analyzed. The related literatures were reviewed. Re-sults Two male patients all presented with low molecular proteinuria, hypercalciuria, rickets and nephrolithiasis. Patient 2 had renal tubular acidosis, glycosuria and cryptochism. Patient 1 was found to have abnormal vision and congenital cataract soon after birth and treated surgically. Patient 1 also had psychomotor retardation and the cranial magnetic resonance ima-ging (MRI) showed agenesis of the corpus callosum. Patient 2 did not have obviously extra-renal symptoms, but was found to have mild cataract by a meticulous ophthalmological examination. MRI showed cerebral hypoplasia and myelination delay and mental retardation was gradually appeared during follow-up. Two OCRL gene mutations were detected. A splice site mutation NG_008638.1:g.46846-46848delTAA/insC was found in patient 1 and a frame shift mutation NM_000276.3:c.321delC in exon 5 was found in patient 2. Both mutations were not reported previously. Conclusions The diagnosis of Lowe syndrome is mainly by clinical manifestations and test of OCRL gene. Lowe syndrome needs to be included in the differential diagnosis of a patient with congenital cataract and renal tubulopathy. Two novel mutations in the OCRL gene were identiifed.

Implementation of a Two-dimensional Behavior Matrix to Distinguish Individuals with Differential Depression States in a Rodent Model of Depression

Animal models of depression are used to study pathophysiology of depression and to advance therapeutic strategies. Stress-induced depression models in rodents are widely used. However, amenable behavioral criteria and experimental procedures that are suitable for animal models have not been established. Given that depression is clinically diagnosed by multiple symptomatic criteria and stress effects are imposed to the brain non-specifically in stress-induced depression models, analyses of depression states in rodents using multiple symptomatic criteria may provide more power than any methods relying on a single symptomatic criterion. To address this, C57BL/6 inbred mice were restrained for 2 h daily for 14 d, and depression states of individual mice were assessed using the U-field test, behavioral assessment developed to measure animal's sociability, and the tail suspension test and/or forced swim test, which are the typical methods that measure psychomotor withdrawal states. Although the majority of these mice showed severe depressive behaviors in both tests, a significant proportion of them, which were all inbred mice and received the same amount of restraints, expressed differential depression states in the sociability test and psychomotor withdrawal tests. To easily read-out differential depression states of individuals in two different tests, a standard method and basic parameters required to construct two-way behavior matrix were introduced. The utility and features of this two-way behavior analysis method for studies of different depressive states of individuals were discussed.

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea / 소아과

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

Síndrome de Sturge Weber: reporte de un caso y revisión de la literatura / Sturge-Weber syndrome: a case report and review of the literature

Introdución: El síndrome de Sturge-Weber (SSW) es una entidad neurocutánea congénita caracterizada por una malformación vascular facial (mancha en vino de Oporto) asociado a angiomatosis leptomeníngea. Su prevalencia es aproximadamente de uno por cada 50 000 nacidos vivos. Afecta por igual a ambos sexos. Las manifestaciones clínicas incluyen a las convulsiones, nevus vascular cutáneo unilateral en relación a la división oftálmica del nervio trigémino, glaucoma ipsilateral, hemiparesia contralateral, hemiatrofia, hemianopia y retraso psicomotor. La característica radiológica es la presencia de calcificaciones giriformes en los lóbulos occipital y parietal. Reporte de caso: Una paciente de 1 año 7 meses llegó a la emergencia presentando convulsiones generalizadas que cesaron con diazepan, y se inició tratamiento con ácido valproico. Mostraba una mancha congénita color vino de Oporto en la frente, además se evidenció un leve retraso psicomotor. La tomografia mostró una calcificación cortical en los lóbulos parietal y occipital izquierdos. En la resonancia magnética se evidenció un reforzamientoleptomeníngeo parietal izquierdo. Conclusiones: El SSW es una entidad rara y de curso progresivo, el diagnóstico no es difícil cuando las manifestaciones típicas están presentes. Una malformación cutánea facial y la presencia de retardo mental debería alertar a los médicos cuando se encuentran frente a niños con convulsiones focales o parciales complejas secundariamente generalizadas en el primer o segundo año de vida.

Introduction: Sturge- Weber syndrome (SWS) is a congenital neurocutaneous syndrome characterized by unilateral facial cutaneous vascular malformation (Port-wine stain) in association with ipsilateral leptomeningeal angiomatosis. Prevalence is approximately one per 50 000 live births. Males and females are equally affected. Clinical manifestations include seizures, unilateral cutaneous vascular nevus following the ophthalmic divisions of the trigeminal nerve, ipsilateral glaucoma, contralateral hemiparesis, hemiatrophy, hemianopia and psychomotor retardation. The radiographic hallmarks of SWS are gyriform calcifications usually involving the occipital and parietal lobes. Case report: A 1 year and 7 month-old girl carne to emergence department showing generalized seizures that resolved with diazepam and valproic acid was started. She had a facial Port-wine birthmark located on the forehead; a mild psychomotor retardation was evidenced. Head CT demonstrated a cortical calcification of the left parietal and occipital lobe. MRI showed a left parietal leptomeningeal enhancement. Conclusions: SWS is a rare and progressive entity, the diagnosis is not hard when typical manifestations are present. Mental retardation and facial cutaneous malfonnations should alert physician when they are in front of infants with focal or complex partial/secondarily generalized seizures in the first or second year of life.

Schinzel-Giedion Syndrome and Psychomotor Retardation: A case report

We reported a girl diagnosed Schinzel-Giedion syndrome with severe psychomotor retardation and malformation that was characterized by mid face retraction, scoliosis, skull anomaly, wide cranial fontanels, brain cortical atropy, atrial septal defect, and hydronephrosis. Urinary tract infection, respiratory tract infection, and seizure were common. The neurodevelopment therapy was not effective and developmental stage was not improved. Spasticity was the only findings which was improved.

A Case of Electrical Status Epilepticus during Sleep / 대한간질학회지

Electrical status epilepticus during sleep (ESES), an EEG defined syndrome characterized by the occurrence of almost continuous spike and/or slow waves during nonREM sleep, is considered to be rare in incidence. It broadly overlaps with benign rolandic epilepsy, pseudo-Lennox syndrome, and Landau-Kleffner syndrome. A 13-year-old boy has been followed up for 11 years because of intractable epilepsy. He is an adopted child and first seizure occurred at the age of 14 months. Seizures were described as tonic, atypical absence and partial motor, occurred daytime and nocturnal, more frequent in the latter. He was retarded in development and had failed to acquire speech. Serial EEG showed moderately developed posterior dominant rhythm during wakefulness, and, however, continuous 2.5 to 3 Hz bilaterally synchronous centro-temporal sharp waves were observed during sleep state. The EEG features were similar, regardless of spontaneous or induced sleep, and remained essentially unchanged during a 12 year follow up period. Brain MRI was not significant. During follow-up period, carbamazepine and vigabatrin worsened his seizures in frequency and intensity, resulting in frequent generalization. On the contrary, there were rare seizures with combination therapy of valproate, clonazepam and lamotrigine and seizures were nearly disappeared after topiramate add-on. This is a case of ESCS with cognitive, behavioral and language disturbances. Clinical and EEG features of related syndromes will be briefly reviewed.

A case of atypical neurofibromatosis type 1

No abstract available.