ABSTRACT
Reportamos un neonato masculino con defectos de línea media, cardiopatía congénita y polidactilia, características sugestivas de trisomía 13. Sin embargo, el reporte de cariotipo fue normal. Por hallazgos clínicos, el diagnóstico final probable fue pseudotrisomía 13. Aunque el pronóstico de ambas condiciones es pobre, los estudios genéticos siempre son necesarios para establecer una adecuada asesoría genética. Si bien hay síndromes con presentación similar, como el de Meckel, el de Smith-Lemli- Opitz, el de Pallister-Hall y el hidroletalus, se puede realizar una aproximación diagnóstica basada en los antecedentes perinatales, el peso al nacer, el tiempo de supervivencia y algunos rasgos característicos de cada síndrome. Además, pueden existir, en algunos países, limitaciones para realizar estudios genéticos, por lo que los criterios clínicos pueden ser relevantes.
We report a male infant with midline defects, congenital heart disease and polydactyly, features suggestive of trisomy 13. However, the report of the karyotype was normal. By clinical findings the final diagnosis was likely to be Pseudotrisomy 13. Although the prognosis is poor in both conditions, the genetic study is always necessary to establish an adequate genetic counseling. Although there are syndromes with similar presentation as Meckel syndrome, Smith-Lemli-Opitz syndrome, Pallister-Hall syndrome and hydrolethalus, it is possible to make a diagnostic approach based on the perinatal history, birth weight, survival time, and some characteristics of each syndrome. However, limitations may exist to perform genetic studies in some countries, therefore the clinical criteria may be relevant.
Subject(s)
Humans , Male , Infant, Newborn , Trisomy/diagnosis , Chromosomes, Human, Pair 13 , Fetal Macrosomia/diagnosis , Hand Deformities, Congenital/diagnosis , Holoprosencephaly/diagnosis , Cleft Lip/diagnosis , Cleft Palate/diagnosis , Polydactyly/diagnosisABSTRACT
Amplio espectro de anormalidades del desarrollo intracraneano y de la región media de la cara, producido por una división incompleta o inexistente del prosencéfalo (lóbulo frontal del embrión) en los hemisferios cerebrales laterales. Se describen su embriología, incidencia, etiología, formas de presentación, malformaciones asociadas, diagnóstico prenatal, y diagnóstico diferencial.
Subject(s)
Humans , Pregnancy , Infant, Newborn , Female , Congenital Abnormalities , Fetal Diseases/diagnosis , Holoprosencephaly/classification , Holoprosencephaly/diagnosis , Holoprosencephaly/etiology , Ultrasonography, PrenatalABSTRACT
OBJECTIVE: To evaluate the accuracy of prenatal ultrasonographic diagnosis in fetuses with trisomy 13. MATERIAL METHOD: The present study consisted of all fetuses diagnosed of trisomy 13 and delivered at Ramathibodi Hospital between 1997 and 2006. RESULTS: There were 15 cases of trisomy 13. Twelve cases (80.0%) were detected by prenatal ultrasonographic examination, and 3 cases (20.0%) were missed. Mean maternal age was 31.4 years old. Sixty-six percent were diagnosed in 2" trimester (mean 19.4 weeks). The earliest gestational age for detection was 12 weeks 6 days. The most common abnormal ultrasonographic findings were holoprosencephaly (46.7%), and facial defects (40.0%). CONCLUSION: The accuracy of prenatal sonographic diagnosis in trisomy 13 fetuses was 80%. The most sensitive prenatal ultrasonographic findings in trisomy 13 were holoprosencephaly and facial defects.
Subject(s)
Adult , Chromosome Aberrations , Chromosomes, Human, Pair 13/genetics , Face/abnormalities , Female , Gestational Age , Holoprosencephaly/diagnosis , Humans , Pregnancy , Risk Factors , Trisomy/diagnosis , Ultrasonography, Prenatal/statistics & numerical dataABSTRACT
Holoprosencephaly [HPE] is a defect of embryonic forebrain resulting from failure of growth and segmentation of the anterior end of the neural tube. It has been classified into 4 types based on the severity of associated brain and facial malformations. The most severe variety called alobar HPE is generally associated with major cranio-facial anomalies such as cyclopia, ethmocephaly, cebocephaly, or cleft-lip/palate. Significant etiological heterogeneity exists in HPE and includes both genetic and environmental causes. Maternal diabetes is a well-established environmental factor with a significant increased risk for HPE. We report on a Saudi Arab girl born to a diabetic mother, with the alobar type of holoprosencephaly, associated with very minimal cranio-facial defects. However, she displayed several other congenital malformations. In addition, she was diagnosed with cystic fibrosis. Simultaneous occurrence of cystic fibrosis and congenital anomalies has been rare
Subject(s)
Humans , Female , Holoprosencephaly/etiology , Holoprosencephaly/diagnosis , Cleft Lip , Cleft Palate , Abnormalities, Multiple , Cystic Fibrosis , Neural Tube Defects , Craniofacial Abnormalities , Diabetes Mellitus , MothersABSTRACT
A newborn female with delayed initiation of respiration was presented. She was born at term, normally of an uncomplicated pregnancy. Her head circumference was 40.5 cm. X-ray skull showed sutural separation. CT-scan of brain showed a large monoventricle occupying most of the cranial cavity. The case had typical features of albolar holoprosencephaly with hydrocephalus. The baby was treated for birth asphyxia.
Subject(s)
Asphyxia Neonatorum/diagnosis , Female , Holoprosencephaly/diagnosis , Humans , Hydrocephalus/diagnosis , Infant, Newborn , Time FactorsABSTRACT
OBJECTIVE: To conduct a clinical study of holoprosencephaly (HPE). METHOD: Thirteen cases of HPE were studied regarding their clinical features, family history, and prenatal and imaging studies. Chromosomal analysis was done whenever fresh sample was available. RESULTS: Six cases were antenatally detected by ultrasound; four cases were stillborn. Three cases were identified by neuroimaging done a part of evaluation of developmental delay or cleft lip. Eleven of them had facial anomalies characteristics of HPE. Two of these had subtle facial features and microcephaly. Karyotype was abnormal in 2 of 7 cases studied. CONCLUSION: Most of the cases of HPE present antenatally or at birth. Milder forms like lobar and semilobar can present as developmental delay during infancy. Facial anomalies are usually associated with HPE. Chromosomal study of the case and clinical examination of the parents is essential for providing information regarding risk of recurrence to the family.
Subject(s)
Abnormalities, Multiple , Female , Holoprosencephaly/diagnosis , Humans , Infant, Newborn , Male , Mutation/genetics , Pregnancy , Prenatal Diagnosis , Retrospective StudiesABSTRACT
Os recentes avanços na medicina vêm propiciando sobrevida cada vez maior a crianças portadoras de malformações graves do sistema nervoso central. A holoprosencefalia corresponde a uma malformação cerebral decorrente da falha na clivagem do prosencéfalo, durante as primeiras semanas de vida embrionária, levando a separação incompleta dos hemisférios cerebrais, além de outras anormalidades. Geralmente, apresenta-se como um evento esporádico, embora possa ser incluída no contexto de uma síndrome genética. A distribuição entre os sexos parece ser homogênea e a incidência na população geral varia consideravelmente. Tradicionalmente, é classificada em três subtipos: alobar, semilobar e lobar, sendo atualmente conhecido um quarto subtipo. Os avanços nos exames de neuroimagem, sobretudo nas técnicas de ressonância magnética, vem propiciando um entendimento cada vez maior das malformações cerebrais de modo geral. Diversos padrões eletrográficos são descritos nos diferentes tipos de holoprosencefalia. Por se tratar de grave malformação cerebral congênita, com sobrevida variável, porém sempre limitada, o tratamento está restrito a medidas de suporte, melhoria da qualidade de vida, controle de crises convulsivas, apoio psicológico aos familiares e aconselhamento genético quando necessário. Este estudo tem o objetivo de apresentar três casos de holoprosencefalia e discutir seus aspectos morfológicos, eletroencefalográficos e de neuroimagem.
Subject(s)
Infant, Newborn , Infant , Female , Humans , Cerebral Cortex/pathology , Diagnostic Imaging , Electroencephalography , Holoprosencephaly/diagnosis , Magnetic Resonance SpectroscopySubject(s)
Humans , Holoprosencephaly/diagnosis , Brain/abnormalities , Chromosome Aberrations , Toxins, BiologicalABSTRACT
La holoprosencefalia es un defecto medio del cerebro con amplio espectro malformativo cuya forma extrema es la ciclopia y es el resultado de una falla en la división del prosencefalo, que involucra el desarrollo del cráneo y rostro fetal puede verse en recién nacidos vivos y más frecuente en mortinatos y abortos. Se reporta 2 casos en el Hospital Patrocinio Peñuela Ruiz del Seguro Social. Un lactante menor de 9 meses de edad quién presentó como única manifestación hemiparesia isquierda y al realizar tomografía de cráneo se evidencia holoprosencefalia lobar y preescolar de 4 años y 4 meses quién al momento de nacer presenta perímetro cefalico de 31 cms, pérdida de la relación cráneo facial, fontanela anterior puntiforme, hendidura palpebral oblicua, diámetros craneales a los rayos X inferior al percentil 50, cariotipo. Tomografía revela holoprosencefalia lobar. Actualmente ambos en condiciones estables. A nivel mundial no existe reporte de sobrevida más allá de los 2 años
Subject(s)
Humans , Male , Female , Infant , Adult , Cerebrum/abnormalities , Holoprosencephaly/classification , Holoprosencephaly/diagnosis , Holoprosencephaly/etiology , Therapeutics , TomographyABSTRACT
Se estudia la correlación entre hallazgos ultrasonográficos en el primer trimestre y cariograma fetal en 25 embarazos en los que se realizó biopsia de vellosidades coriales. Se detectaron siete anomalías cromosómicas (28 por ciento), las que incluyeron tres casos de síndrome de Turner (45, XO), dos casos de trisomía 21, un caso de trisomía 13 y un caso de síndrome de Klinefeiter (47, XXY). En cinco de los siete casos (71 por ciento) se detectó traslucencia nucal aumentada, incluyendo los tres con síndrome de Turner y los dos con trisomía 21. Aunque el feto con trisomía 13, tuvo translucencia nucal normal, fue posible detectar holoprosencefalia alobar, dismorfismo facial y polidactilia a las 13 semanas de gestación. Cuatro fetos con translucencia nucal aumentada tuvieron cariograma normal y el embarazo ha progresado en forma normal. Se concluye que un alto número de fetos con anomalías cromosómicas presentan anomalías detestables por ultrasonografía en el primer trimestre del embarazo. La medición de la translucencia nucal entre las 1 0 y 14 semanas tiene gran importancia en la detección precoz de anomalías cromosómicas y en la determinación del riesgo individual de aneuploidia, tanto en mujeres con edad materna avanzada como en la población general
Subject(s)
Humans , Female , Pregnancy , Adult , Chorionic Villi Sampling , Chromosome Aberrations , Ultrasonography, Prenatal , Chromosome Aberrations/diagnosis , Chromosome Aberrations/pathology , Holoprosencephaly/diagnosis , Maternal Age , Pregnancy Complications , Pregnancy Trimester, First , Turner Syndrome/diagnosis , Trisomy/diagnosisABSTRACT
Se presenta un caso de diagnóstico prenatal de trisomía 13 y holoprosencefalia, durante el segundo trimestre de embarazo. Se practica una revisión de la literatura existente, incluyendo criterios de diagnóstico sonográfico y aspectos genéticos asociados. Se insiste en la importancia del diagnóstico sonográfico y genético antenatal, en la determinación de un pronóstico para el manejo ante e intraparto de estos casos
Subject(s)
Humans , Female , Pregnancy , Adult , Holoprosencephaly/complications , Holoprosencephaly/diagnosis , Holoprosencephaly/genetics , Trisomy/diagnosis , Trisomy/genetics , Trisomy/pathologyABSTRACT
Two cases of alobar holoprosencephaly and two of Aicardi syndrome are reported for their highly specific electroencephalographic (EEG) changes. The asynchronous sharp waves and spikes over the frontal regions with decreasing gradient of potential to the occipital leads were seen in alobar holoprosencephaly while burst suppression pattern with total asynchrony between the two hemispheres was seen in Aicardi syndrome. Even though EEG changes cannot be pathognomic of any abnormality, it is suggested that as in conditions like subacute sclerosing panencephalitis and petitmal epilepsy, so also in alobar holoprosencephaly and Aicardi syndrome, the characteristic features seen on EEG may provide the initial clue to the correct diagnosis.