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1.
Chinese Journal of Medical Genetics ; (6): 67-74, 2024.
Article in Chinese | WPRIM | ID: wpr-1009355

ABSTRACT

OBJECTIVE@#To explore the genetic basis of two children with unexplained psychomotor developmental delay and facial dysmorphisms suggestive of Coffin-Siris syndrome (CSS).@*METHODS@#A boy and a girl suspected for CSS at the 980th Hospital of the People's Liberation Army Joint Service Support Force respectively in July 2019 and January 2021, and seven members from their families, were selected as the study subjects. Clinical data and family history of the children were collected, and detailed physical examination was carried out, in addition with laboratory and related auxiliary examinations. Potential variants and copy number variations (CNVs) were detected by whole exome sequencing (WES) and copy number variation sequencing (CNV-seq).@*RESULTS@#Child 1, an 8-month-old female, had featured microcephaly, atrial septal defect, curving of fifth finger/toe, and low limb muscle tone. Child 2 was a 2.5-year-old male with language delay, social impairment, dense hair but no curving of the fifth fingers. Genetic testing revealed that child 1 had loss of heterozygosity for exons 8 to 21 of the ARID1B gene, which was unreported previously. Family verification showed that both of her parents were of the wild type. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and American Society of Molecular Pathology (AMP), the variant was rated as pathogenic (PVS1+PS2+PM2-supporting). Child 2 was found to harbor a heterozygous c.4263-6 (IVS17) T>G variant of the ARID1B gene. Transcriptome sequencing confirmed that the variant can affect the normal splicing, resulting in retention of a 5 bp sequence in intron 17. Family verification showed that both of his parents were of the wild type. Based on the guidelines from the ACMG, the variant was rated as pathogenic (PS2+PM2-supporting+PP3+PS3).@*CONCLUSION@#WES and RNA-seq have confirmed the diagnosis of CSS in both children. Discovery of the novel variants has expanded the spectrum of pathogenic mutations underlying CSS, and provided a basis for the genetic counseling.


Subject(s)
Child, Preschool , Female , Humans , Infant , Male , Abnormalities, Multiple/diagnosis , DNA Copy Number Variations , DNA-Binding Proteins/genetics , Intellectual Disability/diagnosis , Micrognathism/genetics , Mutation , Transcription Factors/genetics
2.
Rev. chil. obstet. ginecol. (En línea) ; 88(6): 397-401, dic. 2023. ilus
Article in Spanish | LILACS | ID: biblio-1530040

ABSTRACT

El síndrome de hemivagina obstruida y anomalía renal ipsilateral (OHVIRA) es producido por una alteración en el desarrollo de los conductos de Müller y Wolff en la vida fetal. El síndrome es poco frecuente, se reporta una prevalencia de 1/2.000 a 1/28.000 casos. La endometriosis se presenta en un 19% de los casos complicando esta patología. El tratamiento del síndrome OHVIRA consiste en resecar el tabique vaginal drenando el hematocolpos. Hasta el momento no existe un consenso en recomendar la realización de una laparoscopia diagnóstica. El objetivo de este estudio es reportar la eventual importancia de la laparoscopia diagnóstica/terapéutica como parte del manejo del síndrome OHVIRA.


Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is caused by a defect in the development of Müllerian and Wolffian ducts at fetal life. The syndrome is uncommon, with a reported prevalence of 1/2,000 to 1/28,000 cases. Endometriosis is present in 19% of cases complicating this pathology. Treatment of OHVIRA syndrome consists in resecting the vaginal septum and draining the hematocolpos. Until now there isnt an agreement on recommending diagnostic laparoscopy as part of the treatment. The aim of this study is to report the importance of diagnostic/therapeutic laparoscopy in the management of OHVIRA syndrome.


Subject(s)
Humans , Female , Adolescent , Uterus/abnormalities , Vagina/abnormalities , Abnormalities, Multiple/surgery , Abnormalities, Multiple/diagnosis , Laparoscopy , Kidney/abnormalities , Syndrome , Uterus/surgery , Vagina/surgery , Endometriosis/etiology , Hematocolpos , Kidney/surgery
3.
Arch. argent. pediatr ; 121(3): e202202624, jun. 2023. ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1436132

ABSTRACT

El síndrome de Wildervanck (cérvico-óculo-acústico) es una patología muy rara, caracterizada por la tríada clásica de fusión de vértebras cervicales o anomalía de Klippel-Feil, síndrome de Duane (paresia del VI par craneal) e hipoacusia. Se han descrito, además, otras afecciones a nivel vascular, cardíaco y musculoesquelético. En este caso clínico, describimos a una paciente que cumple la tríada cardinal, además de presentar datos clínicos adicionales que no han sido reportados con anterioridad, lo cual contribuye a la ampliación del fenotipo de la enfermedad. Asimismo, realizamos una revisión de la literatura respecto a este síndrome


Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or Klippel-Feil anomaly, Duane syndrome (paresis of the sixth cranial nerve), and hearing loss. Other vascular, cardiac, and musculoskeletal conditions have also been described. In this case report, we describe a patient who met the cardinal triad and also presented additional clinical data that have not been previously reported, which contribute to broadening the disease phenotype. We have also reviewed the bibliography related to this syndrome.


Subject(s)
Humans , Female , Adolescent , Abnormalities, Multiple/diagnosis , Duane Retraction Syndrome , Deafness/genetics , Klippel-Feil Syndrome
4.
Chinese Journal of Medical Genetics ; (6): 21-25, 2023.
Article in Chinese | WPRIM | ID: wpr-970871

ABSTRACT

OBJECTIVE@#To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome.@*METHODS@#Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing. Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out for a high-risk fetus from pedigree 2.@*RESULTS@#The proband of pedigree 1 was a fetus at 23+5 weeks gestation, for which both ultrasound and MRI showed "cerebellar vermis malformation" and "molar tooth sign". No apparent abnormality was noted in the fetus after elected abortion. The fetus was found to harbor c.812+3G>T and c.1828G>C compound heterozygous variants of the INPP5E gene, which have been associated with Joubert syndrome type 1. The proband from pedigree 2 had growth retardation, mental deficiency, peculiar facial features, low muscle tone and postaxial polydactyly of right foot. MRI also revealed "cerebellar dysplasia" and "molar tooth sign". The proband was found to harbor c.485C>G and c.1878+1G>A compound heterozygous variants of the ARMC9 gene, which have been associated with Joubert syndrome type 30. Prenatal diagnosis found that the fetus only carried the c.485C>G variant. A healthy infant was born, and no anomalies was found during the follow-up.@*CONCLUSION@#The compound heterozygous variants of the INPP5E and ARMC9 genes probably underlay the disease in the two pedigrees. Above finding has expanded the spectrum of pathogenic variants underlying Joubert syndrome and provided a basis for genetic counseling and prenatal diagnosis.


Subject(s)
Female , Humans , Pregnancy , Pedigree , Cerebellum/abnormalities , Abnormalities, Multiple/diagnosis , Eye Abnormalities/diagnosis , Kidney Diseases, Cystic/diagnosis , Phosphoric Monoester Hydrolases/genetics , Retina/abnormalities , East Asian People , Mutation
5.
Rev. cir. (Impr.) ; 73(3): 262-271, jun. 2021. tab, ilus
Article in Spanish | LILACS | ID: biblio-1388832

ABSTRACT

Resumen Introducción: El secuestro pulmonar (SP) es una malformación congénita caracterizada por tejido pulmonar con vascularización de una arteria sistémica anómala. Objetivo: Analizar las características y tratamiento de pacientes adultos y pediátricos con secuestro pulmonar. Materiales y Método: Estudio descriptivo transversal. Periodo: enero de 1988 a diciembre de 2018. La información se obtuvo de fichas clínicas y registros de anatomía patológica. Se describen edad, sexo, características clínicas, diagnóstico, tratamiento quirúrgico y hallazgos anatomopatológicos. Se realizó análisis estadístico mediante SPSS25® y se usó la prueba Mann-Whitney y X2, considerándose significativo p < 0,05. Resultados: Total 33 pacientes, 25 (75,8%) mujeres. Edad promedio 30,2 años, rango: 0-68. Adultos 23 (69,7%) pacientes y pediátricos (< 15 años) 10 (30,3%) pacientes. La presentación clínica fue sintomatología pulmonar en 23 (69,7%) casos y 9 (27,3%) eran asintomáticos. Tres (9,1%) presentaron malformación congénita asociada. Diagnóstico preoperatorio en 15 (45,5%) pacientes. La ubicación más frecuente fue lóbulo inferior izquierdo. El tipo intralobar fue el más frecuente en 23 (69,7%) casos. La cirugía más frecuente fue la lobectomía con identificación y ligadura del vaso sistémico. El vaso aberrante se originó en aorta torácica en 27 (81,8%) casos e infradiafragmático (no precisado) en 3 (9,1%) casos. Vaso único en 26 (78,8%) y doble en 5 (15,2%) casos. No hubo mortalidad. Existen diferencias en las características entre los secuestros en pacientes adultos y pediátricos. Discusión y Conclusión: Los SP son infrecuentes, se presentan principalmente en adultos jóvenes como neumopatías a repetición, se distinguen diferencias en las características entre los pacientes adultos y pediátricos, y tienen excelente pronóstico posoperatorio.


Background: Pulmonary sequestration (PS) is a congenital malformation characterized by lung tissue with vascularization from anomalous systemic arteries. Aim: To analyze characteristics and treatment of adult and pediatric patients with pulmonary sequestration. Materials and Method: Transversal descriptive study. Period: January-1988 to December-2018. Information was obtained from clinical files and pathological anatomy records. Age, sex, clinical characteristics, diagnosis, surgical treatment and pathological findings are described. Statistical analysis was performed using SPSS25® and the Mann-Whitney and Chi square test were used, considering p < 0.05 to be significant. Results: Total 33 patients, 25 (75.8%) women. Average age 30.2 years, range: 0-68. Adults 23 (69.7%) patients and pediatric (< 15 years) 10 (30.3%) patients. The clinical presentation was pulmonary symptoms in 23 (69.7%) cases and 9 (27.3%) were asymptomatic. Three (9.1%) presented another congenital malformation. Preoperative diagnosis in 15 (48.4%) patients. The most frequent location was the left lower lobe. The intralobar type was the most frequent: 23 (69.7%) cases. The most frequent surgery was lobectomy with identification and ligation of the systemic vessel. The systemic vessel originated in the thoracic aorta in 27 (81.8%) cases and infradiaphragmatic (not specified) in 3 (9.1%) cases. Single vessel in 26 (78.8%) and double in 5 (15.2%) cases. There was no mortality. Differences were found in characteristics between adult and pediatric patients. Conclusion: SP are infrequent, they mostly appear in young adults as recurrent lung diseases, differences in characteristics are distinguished between adult and pediatric patients and they have an excellent postoperative prognosis.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Aged , Bronchopulmonary Sequestration/diagnosis , Bronchopulmonary Sequestration/physiopathology , Abnormalities, Multiple/diagnosis , Severity of Illness Index , Radiography, Thoracic , Bronchopulmonary Sequestration/etiology , Risk Assessment
6.
Rev. chil. pediatr ; 91(5): 732-742, oct. 2020. tab
Article in Spanish | LILACS | ID: biblio-1144272

ABSTRACT

INTRODUCCIÓN: El Síndrome de Down se presenta en 2,5 de 1.000 recién nacidos vivos chilenos. Presentan más anomalías congénitas y comorbilidades que la población general, aumentando su tasa de hospitalización. OBJETIVO: Describir las anomalías congénitas y comorbilidades de neonatos con Síndrome de Down nacidos y/u hospitalizados en la década 2008-2018. PACIENTES Y MÉTODO: Retrospectiva mente se revisaron registros de los pacientes nacidos y/u hospitalizados dentro de sus 28 días de vida entre el 1 de enero de 2008 y el 31 de diciembre de 2018. Para cada paciente se consignó: edad materna, antecedentes familiares de Síndrome de Down, antecedentes pre y perinatales y resultado de estudio genético. Se consignó la edad al ingreso, el motivo principal de ingreso, comorbilidades, días de hospitalización y fallecimiento. Se excluyeron dos pacientes con más del 50% de ficha in completa. Se exploraron asociaciones entre morbilidades, anomalías y fallecimiento. RESULTADOS: 140 de 79.506 (0,2%) recién nacidos vivos fueron diagnosticados con Síndrome de Down en el período neonatal. 24,7% fueron prematuros y 26,4% tuvieron bajo peso para su edad gestacional. Los porcentajes de morbilidad y hospitalización fueron 83,6% y 90%. La principal causa de ingreso fue la poliglobulia, y la más frecuente hiperbilirrubinemia. Fallecieron 4 pacientes (2,9%) y 70,7% presentó alguna una anomalía congénita, principalmente cardíaca. La mediana de edad materna fue de 36 años y 57,1% tenía 35 años o más. CONCLUSIONES: Esta investigación aporta información relevante para optimizar el manejo perinatal y el seguimiento de los pacientes con Síndrome de Down.


INTRODUCTION: In Chile, Down syndrome has a prevalence of 2.5 in 1,000 live births. These patients present more congenital anomalies and comorbidities than the general population, increasing their hospitaliza tion rate. OBJECTIVE: To describe congenital anomalies and comorbidities of neonates with Down syndrome born and/or hospitalized between 2008 and 2018. PATIENTS AND METHOD: We conducted a retrospective review of patient's medical records born and/or hospitalized during their first 28 days of life between January 1st, 2008, and December 31st, 2018. For each patient, we recorded maternal age, familiar cases of Down Syndrome, pre and perinatal history, genetic study result, as well as age at admission, reason for hospitalization, comorbidities, length of stay, and death. Two patients that had more than 50% of incomplete medical records were excluded. We studied the associations between comorbidities, congenital anomalies, and death. RESULTS: 140 in 79,506 newborns (0.2%) were diagnosed at our center with Down Syndrome in their neonatal period. 24.7% were born preterm and 26.4% had low birth weight for gestational age. Morbidities and hospitalizations were present in 83.6% and 90%, of the study population, respectively. The main reason for hospitalization was polycythemia and the most frequent was hyperbilirubinemia. Four patients died (2.9%) and 70.7% presented at least one congenital anomaly, mainly heart disease. Median maternal age was 36 years and 57.1% of mothers were aged 35 or older. CONCLUSIONS: This cohort of patients with Down Syndrome provides important information for the optimization of their perinatal management and follow-up.


Subject(s)
Humans , Male , Female , Infant, Newborn , Abnormalities, Multiple/epidemiology , Down Syndrome/epidemiology , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/therapy , Comorbidity , Logistic Models , Chile/epidemiology , Retrospective Studies , Follow-Up Studies , Down Syndrome/diagnosis , Down Syndrome/therapy , Hospitalization/statistics & numerical data
7.
Arq. bras. oftalmol ; 83(4): 338-341, July-Aug. 2020. tab, graf
Article in English | LILACS | ID: biblio-1131607

ABSTRACT

ABSTRACT Infantile hemangioma, the most common benign tumor in infancy, is usually an isolated condition occurring in many different locations in the body. However, large infantile hemangioma may be associated with other systemic malformations, including central nervous system, cerebrovascular, cardiac, and ophthalmology abnormalities, a condition termed PHACE syndrome. In this paper, we describe a case of PHACE syndrome that was presented with the unique association of a large facial infantile hemangioma and morning glory anomaly.


RESUMO O hemangioma infantil é a causa mais comum de tumor benigno na infância e usualmente é uma condição isolada podendo ocorrer em diferentes regiões do corpo. No entanto, hemangiomas infantil extensos podem ser associados com outras malformações sistêmicas incluindo anomalias no sistema nervoso central, cerebrovasculares, cardíacas e oftalmológicas, uma condição denominada síndrome PHACE. Neste trabalho, descrevemos o caso de um paciente com síndrome PHACE que se apresentou com um extenso hemangioma facial e anomalia de "morning glory".


Subject(s)
Humans , Infant , Aortic Coarctation/complications , Abnormalities, Multiple , Eye Abnormalities/complications , Neurocutaneous Syndromes/complications , Eye Neoplasms/complications , Hemangioma , Abnormalities, Multiple/diagnosis , Eye Abnormalities/diagnosis , Eye Neoplasms/diagnosis , Hemangioma/complications , Hemangioma/diagnosis
8.
Colomb. med ; 50(1): 40-45, Jan.-Mar. 2019. tab, graf
Article in English | LILACS | ID: biblio-1001852

ABSTRACT

Abstract Case Description: We report the case of a one-year-old girl who was diagnosed with Wiedemann-Steiner Syndrome based on the identification of a novel de novo frameshift mutation in the KMT2A gene by whole exome sequencing and supported by her clinical features. Clinical Findings: KMT2A mutations cause Wiedemann-Steiner Syndrome, a very rare genetic disorder characterized by congenital hypertrichosis, short stature, intellectual disability, and distinct facial features. Treatment and Outcome: Whole exome sequencing identified a novel frameshift variant: c. 4177dupA (p.Ile1393Asnfs * 14) in KMT2A; this change generates an alteration of the specific binding to non-methylated CpG motifs of the DNA to the protein. The genotype and phenotype of the patient were compared with those of earlier reported patients in the literature. Clinical Relevance: In diseases with low frequency, it is necessary to establish a genotype-phenotype correlation that allows the establishment of therapeutic and follow-up goals. The phenotype comparation with other reported cases did not show differences attributable to sex or age among patients with Wiedemann-Steiner Syndrome. Whole exome sequencing allows identifying causality in conditions with high clinical and genetic heterogeneity like hypertrichosis.


Resumen Descripción del caso: Se reporta el caso de una paciente femenina de un año de edad, diagnosticada con Síndrome de Wiedemann-Steiner basado en la identificación de una nueva variante patogénica de novo de tipo frameshift en el gen KMT2A Mediante secuenciación de exoma usando el enfoque de trio, sumado a sus características clínicas. Hallazgos clínicos: las mutaciones en KMT2A causan el Síndrome de Wiedemann-Steiner, un desorden genético muy raro caracterizado por hipertricosis congénita, talla baja, retardo mental variable y fenotipo facial distintivo, los cuales se encuentran en la paciente reportada. Resultado: La Secuenciación de exoma completo encontró una variante de tipo frameshift: c.4177dupA (p. Ile1393Asnfs * 14) en KMT2A, este cambio a nivel génico genera una alteración de la unión específica a motivos CpG no metilados del DNA a la proteína. El genotipo y el fenotipo de la paciente fue comparado con los pacientes reportados previamente en la literatura. Relevancia clínica: En enfermedades con baja frecuencia como la aquí reportada es necesario establecer correlaciones genotipo-fenotipo que permitan establecer planes terapéuticos y de seguimiento. El análisis realizado no evidenció diferencias atribuibles a sexo o edad entre los pacientes diagnosticados con Síndrome de Weidemann-Steiner. La secuenciación de exoma permitió identificar causalidad en este caso, cuya característica principal de hipertricosis se asocia con alta heterogeneidad clínica y genética.


Subject(s)
Female , Humans , Infant , Abnormalities, Multiple/diagnosis , Histone-Lysine N-Methyltransferase/genetics , Myeloid-Lymphoid Leukemia Protein/genetics , Hypertrichosis/congenital , Intellectual Disability/genetics , Phenotype , Syndrome , Abnormalities, Multiple/genetics , Genotype , Hypertrichosis/genetics , Mutation
9.
An. bras. dermatol ; 93(1): 135-137, Jan.-Feb. 2018. graf
Article in English | LILACS | ID: biblio-887143

ABSTRACT

Abstract: Trichothiodystrophy refers to a heterogeneous group of rare genetic diseases that affects neuroectodermal-derived tissues with multisystem involvement. The hallmark of these syndromes is the deficiency of sulfur in hair matrix proteins, leading to short and brittle hair. Few cases of this rare disorder have been published. The authors report a case of trichothiodystrophy in a male infant with ichthyosis, photosensitivity, spastic paraparesis, short stature, and neurologic and psychomotor retardation. Diagnosis was based on clinical and microscopic features of hair samples.


Subject(s)
Humans , Male , Child, Preschool , Abnormalities, Multiple/diagnosis , Trichothiodystrophy Syndromes/diagnosis , Ichthyosis/diagnosis , Intellectual Disability/diagnosis , Photosensitivity Disorders/complications , Trichothiodystrophy Syndromes/complications , Ichthyosis/complications , Intellectual Disability/complications
10.
Rev. chil. pediatr ; 89(1): 92-97, feb. 2018. tab, graf
Article in Spanish | LILACS | ID: biblio-900074

ABSTRACT

Resumen: Introducción: Las hidrocefalias son condiciones complejas influenciadas por factores genéticos y ambientales. Excluyendo las hidrocefalias adquiridas por infección o tumores encefálicos, las hidrocefalias congénitas de causa genética pueden ocurrir de forma aislada (hidrocefalia aislada, pura o no sindromática) o como componente de un síndrome genético definido (hidrocefalia sindromática). Objetivo: Presentar una hidrocefalia congénita sindromática con un diagnóstico co nocido, y realizar una revisión de la literatura. Caso clínico: Preescolar con diagnóstico prenatal de hidrocefalia y romboencefalosinapsis, cariotipo y estudio de TORCH normales. Al nacer se confirmaron los diagnósticos prenatales y se excluyó malformación del desarrollo cortical cerebral. En la primera semana de vida se realizó derivación ventrículo peritoneal. En una reevaluación a la edad de 4 años, la ausencia de reflejos corneales y alopecia parietal bilateral asociado a romboencefalosinapsis reunieron los criterios diagnósticos definitivos de una displasia cerebelo-trigémino dermal (Síndrome de Gómez, López-Hernández (SGLH)). Conclusiones: El SGLH es un síndro me neurocutáneo infrecuente, posiblemente una condición esporádica que está subdiagnostica da. Con las nuevas tecnologías imageneológicas y genéticas pre y post natales podemos acceder a un diagnóstico de precisión de las hidrocefalias de origen genético, en el cual la alta sospecha de equipos de especialistas clínicos es esencial. Sin el diagnóstico preciso no podemos acceder a un pronóstico a largo plazo, prevención de morbilidad agregada y un consejo genético adecuado, que son requeridos en la pediatría actual.


Abstract: Introduction: Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic) or as a component of a genetic syndrome (syndromic hydrocephalus). Objective: To present a syndromic congenital hydrocephalus with a known diagnosis, in order to be considered in the study of this pathology and to perform a review of hydrocephaly with a genetic cause. Clinical case: Preschool with a prenatal diagnosis of hydrocephalus and rhombencephalosynapsis, karyotype and study of TORCH was normal. At the moment of birth, the prenatal diagnoses were confirmed and a malformation of cerebral cortical development was excluded. During the first week of life, perito neal ventricle shunt was performed. A reevaluation at age 4, the absence of corneal reflexes bilate ral parietal and congenital focal alopecia associated with rhombencephalosynapsis, meet definitive criteria for cerebello-trigeminal-dermal displasia or Gómez-López-Hernández syndrome (GLHS). Conclusions: GLHS is an uncommon neurocutaneous syndrome, possibly a sporadic condition that is underdiagnosed. Due to the new imaging and genetic technologies pre and post-natal, today it is possible to achieve a better and more accurate diagnosis of hydrocephalus with a genetic origin, in which the high suspicion of teams of clinical specialists is essential. Without accurate diagnosis, we can not access to a long-term prognosis, prevention of aggregate morbidity or an adequate genetic counseling, which are required in today's pediatrics.


Subject(s)
Humans , Male , Child, Preschool , Abnormalities, Multiple/diagnosis , Cerebellum/abnormalities , Craniofacial Abnormalities/diagnosis , Neurocutaneous Syndromes/diagnosis , Alopecia/diagnosis , Growth Disorders/diagnosis , Hydrocephalus/congenital , Rhombencephalon , Hydrocephalus/diagnosis
11.
Rev. chil. pediatr ; 88(6): 781-786, dic. 2017. graf
Article in Spanish | LILACS | ID: biblio-900052

ABSTRACT

Resumen Introducción: La asociación Mardini-Nyhan o LACHT es una condición clínica de baja prevalência que cursa con alteraciones pulmonares, cardíacas y de las extremidades. Su etiología no está clara mente documentada hasta la fecha. Objetivo: Describir el caso de una niña de 4 meses y realizar una revisión de la literatura de los casos reportados sobre esta asociación, con el propósito de exponer las alteraciones encontradas y de esta forma orientar el diagnóstico temprano de esta entidad. Caso clínico: Niña de 4 meses de edad que ingresa a cuidado intensivo en insuficiencia respiratoria mixta, con alteraciones pulmonares, cardíacas y de extremidades que cumplen criterios para la asociación LACTH, se documenta adicionalmente hipoplasia de la vía aérea superior, que empeora la evolución, aumenta la dificultad en la ventilación mecánica y favorece el desenlace fatal a los 7 días de hospitali zación. Conclusiones: La asociación LACTH es una patología poco prevalente en la cual los hallazgos clínicos permiten sospechar el diagnóstico. Es caso clínico sería el primer caso diagnosticado en el continente americano y el caso número 11 descrito en la literatura mundial, aportando como nuevo hallazgo la asociación con hipoplasia de la vía aérea superior.


Abstract Introduction: The Mardini-Nyhan or LACHT association is a clinical condition of low prevalence that presents with pulmonary, cardiac and limb abnormalities, in which genetic etiology is not clearly documented to date. Objective: To describe the case of a 4-month-old child and the literature review of cases reported on this association, with the purpose of exposing the alterations found and thus gui de the early diagnosis of this entity. Clinical case: 4 months old girl, who admitted to intensive care in mixed respiratory failure, with pulmonary, cardiac and limb disorders that meet criteria for LACHT association, additionally documents hypoplasia of the upper airway, which worsens the evolution, increases the difficulty in mechanical ventilation and favors the fatal outcome at 7 days of hospita lization. Conclusions: LACTH association is a rare pathology in which the clinical findings make it possible to suspect the diagnosis, this is the first case diagnosed in the Americas and the number 11 case in the world literature and brings as a new finding the association with hypoplasia of the upper airway.


Subject(s)
Humans , Female , Infant , Abnormalities, Multiple/diagnosis , Limb Deformities, Congenital/diagnosis , Fingers/abnormalities , Heart Defects, Congenital/diagnosis , Lung/abnormalities , Lung Diseases/diagnosis , Fatal Outcome
12.
Clinics ; 72(9): 526-537, Sept. 2017. tab, graf
Article in English | LILACS | ID: biblio-890734

ABSTRACT

OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the diseases. The objective of this study was to assess the diagnostic capacity of multiplex ligation-dependent probe amplification and array techniques for etiologic diagnosis of syndromic patients. METHODS: We analyzed 93 patients with developmental delay and multiple congenital abnormalities using multiplex ligation-dependent probe amplifications and arrays. RESULTS: Multiplex ligation-dependent probe amplification using different kits revealed several changes in approximately 33.3% of patients. The use of arrays with different platforms showed an approximately 53.75% detection rate for at least one pathogenic change and a 46.25% detection rate for patients with benign changes. A concomitant assessment of the two techniques showed an approximately 97.8% rate of concordance, although the results were not the same in all cases. In contrast with the array results, the MLPA technique detected ∼70.6% of pathogenic changes. CONCLUSION: The obtained results corroborated data reported in the literature, but the overall detection rate was higher than the rates previously reported, due in part to the criteria used to select patients. Although arrays are the most efficient tool for diagnosis, they are not always suitable as a first-line diagnostic approach because of their high cost for large-scale use in developing countries. Thus, clinical and laboratory interactions with skilled technicians are required to target patients for the most effective and beneficial molecular diagnosis.


Subject(s)
Humans , Child , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Developmental Disabilities/diagnosis , Developmental Disabilities/genetics , Brazil , DNA Copy Number Variations , Multiplex Polymerase Chain Reaction/instrumentation , Multiplex Polymerase Chain Reaction/methods , Oligonucleotide Array Sequence Analysis/instrumentation , Oligonucleotide Array Sequence Analysis/methods , Reference Standards , Reference Values , Reproducibility of Results
13.
Rev. méd. Chile ; 145(7): 950-953, jul. 2017. graf
Article in Spanish | LILACS | ID: biblio-902569

ABSTRACT

McKittrick-Wheelock syndrome is caused by chronic water and electrolyte hypersecretion from an intestinal tumor, usually a villous adenoma, located in the rectum or sigmoid. Patients often have dehydration, hypovolemic shock and kidney failure associated with hypokalemia, hyponatremia, hypochloremia and metabolic acidosis. We report a 62-year-old male, suffering chronic diarrhea for eight years who was admitted after a syncope. He had severe hypokalemia, hyponatremia, metabolic acidosis, hypovolemia and acute renal failure. After his metabolic disorders were corrected, a colonoscopy showed a large rectosigmoid tumor with the characteristics of a villous adenoma. During the follow up after the complete tumor resection, the patient has remained asymptomatic.


Subject(s)
Humans , Male , Middle Aged , Uterine Diseases/diagnosis , Abnormalities, Multiple/diagnosis , Polydactyly/diagnosis , Coronary Disease/diagnosis , Hydrocolpos/diagnosis , Heart Defects, Congenital/diagnosis , Uterine Diseases/surgery , Abnormalities, Multiple/surgery , Polydactyly/surgery , Diagnosis, Differential , Hydrocolpos/surgery , Heart Defects, Congenital/surgery
14.
Rev. chil. pediatr ; 88(3): 411-416, jun. 2017. tab
Article in English | LILACS | ID: biblio-899996

ABSTRACT

Terminal and interstitial deletions of the distal segment of the long arm of chromosome 4 (Cr4q del) are not common genetic disorders. The severity of the phenotype is correlated with the size of the deletion because small deletions have little clinical impact, whereas large deletions are usually associated with multiple congenital anomalies, postnatal growth failure, and moderate to severe intellectual disability. Alteration in pain tolerance has not been included among these features, also in case of large deletions. The purpose of this report is to document a case of a child affected by interstitial Cr4q del, expressing pain insensitivity as clinical feature not previously described. We also offer a discussion on genetic disorders featuring pain insensitivity/indifference. Case report. A Caucasian girl aged 12 came to our observation for a developmental delay with multiple congenital abnormalities and moderate intellectual disability (IQ 47). A de novo interstitial Cr4 del between band q31.3 and q32.2 (Cr4 del q31.3 to q32.2) was found. The child also expresses no evidence of pain perception to injures which normally evoke pain. Consequently, she is affected by severe disability caused by painless injuries and self-injurious behaviours, such as excessive self-rubbing and scratching. The neurological examination manifested high pain threshold with preserved tactile sensitivity. Conclusions. This is the first report of pain insensitivity in a patient with a specific genetic deletion involving the interstitial region of the distal long arm of Cr4. Moreover, this report could serve as a useful model to better understand mechanisms of pain perception and its modulation.


Subject(s)
Humans , Female , Child , Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 4 , Pain Insensitivity, Congenital/genetics , Developmental Disabilities/genetics , Chromosome Deletion , Intellectual Disability/genetics , Abnormalities, Multiple/diagnosis , Pain Insensitivity, Congenital/diagnosis , Developmental Disabilities/diagnosis , Intellectual Disability/diagnosis
15.
Arch. argent. pediatr ; 114(6): e398-e402, dic. 2016. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-838303

ABSTRACT

El síndrome de Klippel-Feil es una malformación congénita de la charnela cráneo-cervical compleja que involucra vértebras y visceras, caracterizada por la tríada clásica de cuello corto, limitación de movimientos de la cabeza por la fusión de vértebras cervicales e implantación baja del cabello en la región occipital. Se presenta por falla de segmentación en el esqueleto axial del embrión. Su incidencia se estima en 1/40 000-42 000nacimientos y predomina en el sexo femenino. El objetivo del presente trabajo es describir el cuadro clínico de un paciente con síndrome de Klippel-Feil y múltiples malformaciones asociadas, entre ellas, fístula traqueoesofágica, pulgar bífido y lipomas/angiolipomas intracraneales, las cuales, hasta ahora, no han sido descritas en el síndrome, por lo que se considera un hallazgo excepcional.


The Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding.


Subject(s)
Humans , Male , Child , Abnormalities, Multiple/diagnosis , Brain Neoplasms/complications , Hand Deformities/complications , Tracheoesophageal Fistula/complications , Angiolipoma/complications , Klippel-Feil Syndrome/complications , Thumb/abnormalities , Brain Neoplasms/diagnosis , Hand Deformities/diagnosis , Tracheoesophageal Fistula/diagnosis , Angiolipoma/diagnosis , Klippel-Feil Syndrome/diagnosis
16.
An. bras. dermatol ; 91(3): 378-380, graf
Article in English | LILACS | ID: lil-787300

ABSTRACT

Abstract: CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes.


Subject(s)
Humans , Male , Child, Preschool , Vascular Malformations/diagnosis , Lipoma/diagnosis , Musculoskeletal Abnormalities/diagnosis , Nevus/diagnosis , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/diagnostic imaging , Magnetic Resonance Imaging , Adipose Tissue/abnormalities , Vascular Malformations/diagnostic imaging , Photograph , Lipoma/diagnostic imaging , Musculoskeletal Abnormalities/diagnostic imaging , Nevus/diagnostic imaging
17.
Rev. chil. pediatr ; 87(1): 59-62, feb. 2016. ilus, tab
Article in Spanish | LILACS | ID: lil-779476

ABSTRACT

Introducción: El síndrome de hipoplasia femoral y facies inusual es una enfermedad rara con expresividad hereditaria variable, aunque se han reportado casos con un patrón autosómico dominante. Afecta particularmente las estructuras de la cara asociado a hipoplasia de fémur. Si bien su etiología no ha sido bien identificada, se ha asociado con diabetes materna, exposición a drogas, infecciones virales, radiaciones y oligohidramnios. Objetivo: Presentar el caso de una recién nacida con este síndrome. Caso clínico: Recién nacida de 41 semanas de gestación con nariz pequeña, labio superior delgado, micrognatia, filtrum largo, implantación baja de orejas, epicanto, cadera displásica con flexión y aducción de miembro inferior derecho y acortamiento del mismo a expensas del muslo. En la imagen radiográfica se encontró hipoplasia de fémur derecho con techo acetabular ipsilateral displásico. Se realizó una evaluación completa por distintos especialistas que descartaron otras malformaciones asociadas. Se programó el alargamiento quirúrgico de miembros inferiores a la edad de 5 meses con la finalidad de que deambule con sus propios pies; paralelamente se inició apoyo con kinesiterapia. Conclusiones: El síndrome de hipoplasia femoral y facies inusual es un padecimiento poco frecuente, que implica la participación de un equipo médico multidisciplinario para su manejo.


Introduction: Femoral hypoplasia-unusual facies syndrome is a rare disease with variable expressivity, although cases have been reported with an autosomal dominant pattern. It particularly affects the structures of the face associated with hypoplasia of the femur. Its aetiology is relatively unknown. However, this syndrome has been associated with maternal diabetes, drug exposure, viral infections, radiation, and oligohydramnios. Objective: The case of a newborn with this syndrome is presented. Clinical case: Newborn of 41 weeks gestation with small nose, thin upper lip, micrognathia, long philtrum, low set ears, epicanthal folds, dysplastic hips showing flexion, and adduction of the right leg, and shortening at the expense of the thigh. X-ray images revealed femoral hypoplasia and dysplastic acetabular roof. Different physicians from other specialties who excluded other associated malformations performed a complete evaluation. Surgical bone lengthening of lower limb is scheduled at 5 months of age, with the purpose that she walks with her own feet; at the same time she began management with kinesiotherapy. Conclusions: Femoral hypoplasia-unusual facies syndrome is a rare condition. A multidisciplinary health care team must treat individuals with femoral hypoplasia-unusual facies syndrome.


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Pierre Robin Syndrome/diagnosis , Abnormalities, Multiple/diagnosis , Femur/abnormalities , Pierre Robin Syndrome/physiopathology , Pierre Robin Syndrome/therapy , Pregnancy Complications/epidemiology , Abnormalities, Multiple/physiopathology , Abnormalities, Multiple/therapy , Femur/physiopathology
18.
Rev. chil. pediatr ; 86(6): 430-435, dic. 2015. ilus, tab
Article in Spanish | LILACS | ID: lil-771662

ABSTRACT

El síndrome de regresión caudal es una malformación congénita poco frecuente que abarca un gran espectro de formas de presentación. Caracterizado por el compromiso musculoesquelético caudal, se puede asociar a defectos neurológicos, gastrointestinales, renales y genitourinarios. Aunque su etiología aún no se encuentra aclarada, se ha asociado a la presencia de diabetes materna y a mutaciones en el gen homeobox HBLX9. Su diagnóstico se basa en un buen estudio ecográfico prenatal, un examen físico detallado y estudio imagenológico posnatal con radiografía y/o resonancia magnética. El síndrome de regresión caudal requiere un manejo multidisciplinario en el cual el control metabólico de la diabetes gestacional constituye la mejor medida preventiva disponible en la actualidad. Se presenta el caso e imágenes de un recién nacido de término de sexo masculino, hijo de madre diabética pregestacional con mal control metabólico y diagnóstico ecográfico prenatal de malformación de columna lumbar, huesos iliacos y extremidades inferiores. Nace en buenas condiciones y se confirma el diagnóstico de síndrome de regresión caudal mediante estudio radiográfico y resonancia magnética compatibles.


Caudal regression syndrome is an uncommon congenital malformation that includes a wide spectrum of clinical presentations. Characterised by caudal musculoskeletal compromise, it can be associated to neurological, gastrointestinal, renal and genitourinary defects. Although the specific aetiology has not been clarified, it has been associated with the presence of maternal diabetes and mutations in homeobox gene HBLX9. Its diagnosis is based on a good prenatal ultrasound detection, detailed physical examination, and post-natal imaging study using radiography and magnetic resonance. Caudal regression syndrome requires multidisciplinary management, and it seems that good metabolic control of gestational diabetes constitutes the best preventive measure available. We present the clinical case and images of a male term newborn, born to a pregestational diabetic mother with poor metabolic control and a prenatal ultrasound diagnosis of lumbar spine, iliac bones and lower limbs malformation. Born in good conditions, the diagnosis was confirmed using X-rays and magnetic resonance.


Subject(s)
Humans , Male , Female , Pregnancy , Adult , Sacrococcygeal Region/abnormalities , Abnormalities, Multiple/diagnosis , Ultrasonography, Prenatal/methods , Diabetes, Gestational/physiopathology , Meningocele/diagnosis , Sacrococcygeal Region/physiopathology , Abnormalities, Multiple/etiology , Abnormalities, Multiple/physiopathology , Lumbar Vertebrae , Meningocele/etiology , Meningocele/physiopathology
19.
Arch. cardiol. Méx ; 85(2): 161-163, abr.-jun. 2015. ilus
Article in Spanish | LILACS | ID: lil-754927

ABSTRACT

La persistencia del quinto arco aórtico es una rara anomalía congénita vascular que consiste en la presencia de una comunicación entre la aorta ascendente y la aorta descendente a través de un conducto arterial; se diagnostica de manera incidental. Informamos de un caso asociado a persistencia de conducto arterioso.


Persistent fifth aortic arch is a rare congenital vascular anomaly, with no clinical impact, so diagnosis is usually an incidental finding ocasionally associated with other congenital heart defects. We report a case of persistent fifth aortic arch associated with patent ductus arteriosus.


Subject(s)
Child , Female , Humans , Abnormalities, Multiple , Aorta, Thoracic/abnormalities , Ductus Arteriosus, Patent/complications , Abnormalities, Multiple/diagnosis , Ductus Arteriosus, Patent/diagnosis
20.
Rev. bras. ginecol. obstet ; 37(4): 192-196, 04/2015. graf
Article in English | LILACS | ID: lil-746081

ABSTRACT

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital disorder of the Müllerian ducts in which there is uterus didelphys, obstructed hemivagina and unilateral renal agenesis. The most common presentation is an abdominal mass secondary to hematocolpos, pain and dysmenorrhea. However, in some cases, such as the one we present here, menses are normal due to an obstructed hemivagina, and diagnosis can be delayed. We describe evaluation and surgical management of a 13-year-old girl with this condition who was diagnosed by computed tomography (CT) scan and confirmed by pelvic ultrasound and surgical exploration, as well as a review of the literature.


A síndrome de Herlyn-Werner-Wunderlich (HWW) é uma doença congênita rara dos dutos müllerianos, em que há útero didelfo, hemivagina obstruída e agenesia renal unilateral. A apresentação clínica mais comum é como uma massa abdominal secundária a hematocolpo, dor e dismenorreia. Em alguns casos, porém, como no que apresentamos aqui, a menstruação é normal devido à obstrução de uma hemivagina, e o diagnóstico pode ser tardio. Descrevemos neste trabalho a avaliação e manejo cirúrgico de uma paciente de 13 anos com essa condição que foi diagnosticada com uso de tomografia computadorizada e confirmada por ultrassonografia pélvica e exploração cirúrgica, bem como uma revisão da literatura.


Subject(s)
Humans , Female , Adolescent , Abnormalities, Multiple/diagnosis , Kidney/abnormalities , Mullerian Ducts/abnormalities , Uterus/abnormalities , Vagina/abnormalities , Syndrome
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