Congenital hemangioma in spondylocostal dysostosis: a novel association

Abstract Congenital hemangioma is a benign tumor caused by dysfunction in embryogenesis and vasculogenesis, which progresses during fetal life to manifest as fully developed at birth. Although hemangiomas are the most common tumor of infancy, rapidly involuting congenital hemangioma has not been described in spondylocostal dysostosis. I report the novel association of congenital hemangioma and spondylocostal dysostosis in a Mexican newborn female patient with neural tube defects. Given the embryological relationship between skin and nervous system, I surmise that this association is not coincidental. I also propose that these morphologic alterations be incorporated to the spondylocostal dysostosis phenotype and specifically looked for in other affected children, in order to provide appropriate medical management and genetic counseling.

Defectos del tubo neural y de labio y paladar hendido: un estudio morfológico / Neural tube defects, cleft lip and palate: a morphological study

El objetivo del trabajo fue realizar una evaluación morfológica externa de recién nacidos (RN) y lactantes con diagnóstico de defectos de tubo neural (DTN) y labio hendido c/s paladar hendido (LH c/s PH) para determinar el tipo de defecto, ubicación, extensión, clasificación y evaluar la proporción de RN con retardo del crecimiento intauterino (RCIU) y lactantes desnutridos. Estudio descriptivo. Se estudiaron 36 niños desde su nacimiento hasta los 12 meses de edad; 20 con DTN y 16 con LH c/s PH. El estudio se realizó en cinco hospitales de la ciudad de Chihuahua, México. Se hizo una evaluación morfológica externa y antropometría de los niños. Los DTN se clasificaron como lesiones abiertas y cerradas, como defectos altos o bajos, según el modelo de sitios múltiples y por la CIE-10. Los LH c/s PH se clasificaron como unilaterales o bilaterales, completos e incompletos y como aislados o múltiples. Se determinó RCIU en los RN y desnutrición en los lactantes. El análisis estadístico se realizó con el paquete STATA 8.0 para Windows. Se estudiaron 20 casos de DTN; 3 lactantes y 17 RN. De LH c/s PH fueron 8 lactantes y 8 RN. En cuanto a los DTN, 60 por ciento fueron mielomeningocele y correspondían a lesiones abiertas. El 85 por ciento se localizaron a nivel alto. En el modelo de cierres múltiples, el Z1 fue el 80 por ciento. Los LH c/s PH más frecuentes fueron aquellos con hendidura completa (50 por ciento). El 35 por ciento de los RN con DTN tuvieron RCIU y el 67 por ciento de los lactantes presentaron desnutrición. Es importante conocer los mecanismos del desarrollo de las anomalías congénitas ya que esto permite precisar el momento en que ocurrió la falla y permite estudiar los factores predisponentes, con lo cual se puede ofrecer asesoramiento genético para una posible prevención.

The objective of this study was to perform an external morphological evaluation of newborn (NB) and lactating children (LC) with diagnosis of neural tube defects (NTD) and cleft lip c/s palate (CL/s PH) to determine the type of defect, location, extent, classification and assess the proportion of infants with intrauterine growth retardation (IUGR) and malnourished infants. A descriptive study in 36 children from birth to 12 months of age , 20 with NTD and 16 with LH c / s PH was carried out. The study was conducted in five hospitals in the city of Chihuahua, Mexico. An external morphological assessment and anthropometry of children were performed. The DTN lesions were classified as open and closed, as defects high or low, depending on the model of multiple sites and ICD-10. The LH c / s PH were classified as unilateral or bilateral, complete or incomplete, and as isolated or multiple. IUGR was determined in the RN and malnutrition in infants. A statistic analysis was made with STATA 8.0 for Windows. We studied 20 cases of NTDs, 3 LCs and 17 RN. LH c/s PH were 8 LC and 8 RN. The DTN, 60 percent were myelomeningocele and corresponded to open lesions. Eighty five percent were located at high level. In the model of multiple closures, the Z1 was 80 percent. The LH c/s PH were more frequent with complete cleft (50 percent). The 35 percent of newborns with NTD had IUGR and 67 percent of LC had malnutrition. It is important to understand the mechanisms of development of congenital anomalies as this allows to specify the time the fault occurred and to study the underlying diseases to offer genetic counseling for possible prevention.

Defecto del cierre del tubo neural: acrania: a propósito de un caso / Neural tube defect closing: acrania: a purpose of a case

Las malformaciones congénitas son un problema poco frecuente; considerando todas las malformaciones en conjunto, éstas se presentan en menos del 2 por ciento de los recién nacidos. Los defectos del cierre del tubo neural: anencefalia, espina bifida, acrania y meningocele, al igual que la mayoría de las malformaciones congénitas, son un grupo de afecciones de etiología multifactorial, producto de la interacción de factores genéticos y ambientales. Los factores genéticos actúan en un sistema poligenético, en el que se tienen que considerar los riesgos de recurrencia, cálculos de heredabilidad, la frecuencia de consanguineidad y las variaciones raciales, los factores ambientales, las infecciones virales, agentes físicos como la hipertemia (fiebre), deficiencia o alteraciones del metabolismo del ácido fólico, así como la exposición a diversas substancias químicas.

Brain tissue aspiration neural tube defect

O objetivo do estudo foi identificar qual a freqüência de aspiração de tecido cerebral e a existência de heterotopia nos pulmões de casos humanos de defeito de fechamento do tubo neural através da reação imuno-histoquímica para proteína fibrilar glial ácida (GFAP) em cortes histológicos de todos os lobos de ambos os pulmões de 22 casos de fetos e neonatos com defeito de fechamento do tubo neural. Havia 15 casos femininos (68,2%) e 7 masculinos (31,8%), com idade gestacional variando de 18 a 40 semanas (média= 31,8), sendo natimortos e neomortos 10 (45,5%) cada e 2 (9,1%) abortos. Os diagnósticos foram: Craniorraquisquise (9 casos, 40,9%), anencefalia (8 casos, 36,4%), encefalocele occipital rota e raquisquise (2 casos, 9,1%) e 1 (4,5%)caso de seqüência de disruptura amniótica precoce. Somente 1 caso (4,5%) apresentou células positivas dentro de bronquíolos e alvéolos em meio a células epiteliais amnióticas. Não se observou heterotopia no interstício pulmonar. Concluímos que a aspiração de tecido encefálico do líquido amniótico pode ocorrer em casos de defeito do fechamento do tubo neural, mas são infreqüentes e heterotopia não foi observada.

Report of 4 cases of the diastematomyelia diagnosis by MRI during one year

Diastematomyelia is one of the uncomon and occult spinal dysraphisms. The term is derived from two latin word: diastemato means split and myelous means cord. The pathological characteristics consist of longitudinal cleft in the spinal cord of the lower thoracic and upper lumbar spinal column in children and rarely in adults. This report has encountered with 4 cases during one year [2003-2004] in M.R.I, centers of university and private clinic that MRI showing a midline dimple shape and hemicord appearance. This study and article found that patient diagnosis with MRI is more reliable and more accurate than other radiological techniques specially CT scanning, because of multisectional and multiplanners for a better view of the lesion. In this study most of patients are a female infant with a majority of clinical neurologic findings including motor and sensory loss in the lower extremities and bladder dysfunction

Neural tube defect in patients delivered at the princes bade teaching hospital in north Jordan

This study aimed at identifying the incidence of neural tube defects [anencephaly, spina bifida cystica and encephalocele] in patients delivered at the princess Badeea Teaching Hospital [PBTH] in North Jordan and to discuss possible ways to reduce them. we reviewed all cases of neural tube defects [NTD] referred to this main hospital in the North of Jordan between 1st January 1995and 31st December 1996. During the study period, there were 55 cases of NTD [2.9/1000 births], of these cases of spina bifida cystica [1.36/1000], 10 cases of encephalocele [0.52/1000], and 19 cases of anencephaly [0.99/1000]. The overall female to male ratio was 1:0.77. The sites of spina bifida were dorsolumbar in 13 [50%], lumbosacral 5 [19.3%], cervical 4 [15.4%] and lumbar 3 [11.5%]. There were 10 cases of encephalocele, in 9 cases [90%] the encephalocele was occipital. Five [50%] cases of encephalocele were associated with malformation while 19 cases [73%] of spina bifida were associated with other malformation. The incidence of NTD is high and probably on the increase in Jordan. We may be able to reduce such defects by advising women of childbearing age to take daily vitamins that contain folic acid before they become pregnant

Correlation between morphological and cytochemical heterogeneity of acute promyelocytic leukemia (APL) and its association with myelodysplasia.

Sixty one cases of acute promyelocytic leukemia (M3) were diagnosed between Jan., 1985 and Dec., 1988. Morphologically 46 cases (75.4%) were characterised as typical M3 and 15 cases (24.6%) as M3 variant. Typical M3 cases had higher number of hypergranular promyelocytes and Auer rods (P less than 0.001). The cytochemical stains of myeloperoxidase, Sudan Block and Black and chloroacetate esterase were strongly positive in M3 typical and mild to moderately positive in M3 variant cases. Alpha-naphthyl acetate esterase positivity with fluoride inhibition was seen only in M3 variant cases (80%). The clinical and haematological parameters including marrow blast count were not significantly different in the two groups. This study has shown that M3 variant cases more frequently express heteregenous cytochemical patterns and myelodysplastic changes.

Cisto neuroentérico: relato de caso / Neuroenteric cyst: report of a case

Os autores relatam um caso raro de cisto neuroentérico, em criança de 6 anos de idade, com quadro clínico de etraparesia rapidamente progressiva e mielografia mostrando uma compreensäo intradural extramedular, ao nível de C5 e C6. O paciente foi submetido a laminotomia cervical, com exérese total do cisto. Os autores revisam a literatura e discutem as alteraçöes embriológicas, anatomia patológica, meios diagnósticos e tratamento desta rara patologia

Histología de la medula osea en las mielodisplasias / Histology of bone marrow in myelodysplasies

Se estudiaron 42 casos de mielodisplasias por medio de cilindros biópsicos obtenidos por punción en la cresta ilíaca. El material fue descalcificado e incluido en parafina, obteniéndose cortes que fueron coloreados con distintas técnicas y observados al microscopio óptico. El estudio comprendió 31 hombres y 10 mujeres, con una relación de sexos de 3,1 a 1 en favor del masculino, una edad media de 55 años y un rango de 7 a 82 años. La celularidad medular se mostró aumentada en el 74%, disminuida en el 19% y normal en el 7% de los casos. La histología demostró la presencia de alteraciones madurativas en las tres series, de intensidad variable según los casos y más evidentes a nivel del sector megacariocítico. En adición a ello se destaca el desplazamiento topográfico de las progenies de sus dominios normales. Es así que el sector rojo deja de conformar islotes eritroblásticos definidos y se dispone en forma de playas celulares en casi toda la extensión del espacio intertrabecular. Los elementos granulocíticos abandonan la zona de generación paratabecular y se disponen en grupos, con presencia de mieloblastos, en el sector central de la médula. Los megacariocitos, aumentados en número se sitúan contra las trabéculas, asociándose a la fibrosis reticulínica que parece partir de esa zona y de la periferia de los vasos, extendiéndose en la mayoría de los casos en forma sistémica, sin formación de colágeno. Los depósitos de hemosiderina se encuentran aumentados, en forma de gránulos finos dispersos o gruesos aislados. Se destaca la importancia de los hallazgos referidos para el diagnóstico de mielodisplasia, a la vez que se hace hincapié en la ausencia de identidad histológica de los cinco tipos de síndromes mielodisplásicos según el grupo FAB