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.

A 24-year-Old Male with Marden-Walker Syndrome and Epilepsy: Case Report.

We report a 24-year-old male with blepharophimosis, psychomotor retardation, brachycephaly, microstomia, immobile face, high arched palate, single palmar crease, kyphoscoliosis, talipes equinovarus, inguinal hernia, pyloric stenosis, recurrent infections, bilateral camptodactyly, wide-set eyes, decreased muscle mass, hypotonia, exotropia, and ptosis in the left eye, growth retardation, multiple congenital contractures, and hyporreflexia. Contractures improved with aging, but intellectual disability and blepharophimosis remained. He also presented epilepsy, outbursts of laughter, and predisposition to drug adverse effects (skin lesions with carbamazepine and secondary parkinsonism).

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.

Lower levels of brain-derived neurotrophic factor are associated with melancholic psychomotor retardation among depressed inpatients.

OBJECTIVES: Melancholic depression is a type of depression which is closely related to biological variables than are other types of depression. Its clinical features can be assessed using six items on the Hamilton Depression Rating Scale (HAM-D6 ). Previous studies have shown, using item response theory, that the symptom depressed mood is the least severe melancholic feature; work and activities, somatic symptoms and psychic anxiety are of moderate severity; and feelings of guilt and psychomotor retardation are the most severe. We aimed to evaluate whether the more severe melancholic signs or symptoms were associated with decreases in brain-derived neurotrophic factor (BDNF) levels. METHODS: A total of 151 severely depressed inpatients had their BDNF levels analyzed by comparing those who presented with each HAM-D6 melancholic feature to those for whom the HAM-D6 feature was absent, using multiple linear regressions. The levels of BDNF of patients who presented with each melancholic feature were also compared with those of 100 healthy controls. RESULTS: Depressed patients' median BDNF level was 44.06 ng/mL (interquartile range [IQR]: 33.99-62.4 ng/mL), and controls' median BDNF level was 65.22 ng/mL (IQR: 49.87-76.08 ng/mL) (P < .001). The presence of depressed mood, work and activities, somatic symptoms, psychic anxiety, and guilty feelings was not associated with BDNF levels. However, the presence of psychomotor retardation was associated with reduced BDNF (median reduction -10.07 ng/mL; 95% confidence interval [CI]: -19.43 to -0.71; P = .03). CONCLUSIONS: To the best of our knowledge, this study is the first to associate BDNF levels with melancholic features in a sample of severely depressed inpatients. The main finding of this study was that severely depressed inpatients who presented the most severe melancholic feature, psychomotor retardation, had significantly reduced BDNF levels in the blood.

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.

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.