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.

Bilateral tibial hemimelia type 1 (1a and 1b) with T9 and T10 hemivertebrae: a novel association / Bilateral tibial hemimelia tipo 1 (1a e 1b) com hemivertebras T9 e T10: uma nova associacao

CONTEXT Congenital absence of the tibia is a rare anomaly with an incidence of one per 1,000,000 live births. It is mostly sporadic and can be identified as an isolated disorder or as part of malformation syndromes. CASE REPORT A male child, born to unaffected and non-consanguineous parents, presented with shortening of the legs and adduction of both feet. Physical examination at six months of age showed head circumference of 44.5 cm (75th percentile), length 60 cm (< 3rd percentile), weight 7,700 g (50th percentile), shortening of the left thigh and both legs with varus foot. There were no craniofacial dysmorphisms or chest, abdominal, genital or upper-extremity anomalies. Psychomotor development was normal. His workup, including renal and cranial ultrasonography, brainstem auditory evoked potential, and ophthalmological and cardiological examinations, was normal. X-rays showed bilateral absence of the tibia with intact fibulae, distally hypoplastic left femur, and normal right femur. In addition, spinal radiographs showed hemivertebrae at T9 and T10. CONCLUSION This novel association expands the spectrum of tibial hemimelia. Moreover, this observation highlights the usefulness of this inexpensive diagnostic method (X-rays) for characterizing the great clinical and radiological variability of tibial hemimelia. .

CONTEXTO Ausência congênita da tíbia é uma anomalia rara, com incidência em 1 por 1.000.000 de nascidos vivos, é principalmente esporádica e pode ser identificada como um distúrbio isolado ou como parte de síndromes de malformações. RELATO DO CASO Criança do sexo masculino, nascida de pais não afetados e não consanguíneos, apresentou-se com encurtamento das pernas e adução de ambos os pés. O exame físico realizado com seis meses de idade mostrou perímetro cefálico 44,5 cm (percentil 75), comprimento de 60 cm (percentil < 3), peso 7.700 g (percentil 50), encurtamento da coxa esquerda e as duas pernas com o pé varo bilateralhavia. Não houve dismorfismos craniofaciais, nem tórax, abdômen, genitais e anomalias das extremidades superiores. O desenvolvimento psicomotor foi normal. Os exames, incluindo ultrassonografia renal e da cabeça, potenciais auditivos evocados de tronco cerebral e exames oftalmológicos e cardiológicos, estavam normais. Raios-X revelou ausência bilateral da tíbia com fíbula intacta, hipoplasia distal do fêmur esquerdo e fêmur direito normal. Além disso, as radiografias de coluna mostraram hemivértebras em T9 e T10. CONCLUSÃO Esta associação nova expande o espectro de hemimelia tibial. Além disso, esta observação destaca a utilidade de tal método diagnóstico barato (raios-X), caracterizando a grande variabilidade clínica e radiológica de hemimelia tibial. .

Malformaciones congénitas como causa de hospitalización en una Unidad de Terapia Intensiva Neonatal / Congenital malformations as a cause of hospitalization in a Neonatal Intensive Care Unit

Introducción: Las malformaciones congénitas (MC) son un problema importante de salud pública y la principal causa de muerte en niños. Representan el 20% de la mortalidad infantil en el primer año de vida. Objetivo: Evaluar la contribución de las MC como causa de hospitalización en una Unidad de Terapia Intensiva Neonatal, basado en el uso de datos obtenidos de una población de neonatos. Material y métodos: Estudio descriptivo en 2,907 neonatos del año 2005-2009, evaluados y categorizados por MC a través de CIE-10, OMS, obtenido por medio del expediente clínico al ingreso a la UCINEX, Hospital Civil de Guadalajara ''Fray Antonio Alcalde''. Los resultados fueron evaluados en porcentaje y medidas de tendencia central. Resultados: Doscientos noventa y cinco neonatos (10%) presentaron MC; 67% fueron masculinos y 33%, femeninos. Mielomeningocele fue la MC más frecuente (13%), mientras que el aparato gastrointestinal fue el más afectado con 27% de las MC. Las anormalidades cromosómicas generaron la estancia intrahospitalaria más elevada (20.5 ± 5.5 días), el sistema cardiovascular presentó 34% de defunción. La mortalidad resultó en 14.2%; 60% de las MC se intervinieron quirúrgicamente y el 64.5% radicaba en la zona metropolitana del Estado de Jalisco. Conclusiones: El conocimiento de la contribución de las MC en la mortalidad neonatal es importante para la integración de medidas preventivas y planificación de estrategias eficaces de atención a la salud, especialmente en las causas, tratamiento y prevención de estos trastornos. Esta información resalta la importancia de estudiar más a fondo el reconocimiento precoz de la morbimortalidad en la población pediátrica.

Introduction: Congenital malformations (CM) are a major public health problem and the leading cause of death in children; representing 20% of infant mortality in the first year of life. Objective: To evaluate the contribution of CM as a cause of hospitalization in a Neonatal Intensive Care Unit. Material and methods: We performed a retrospective, observational, transversal and descriptive study, in which we reviewed the medical records of 2,907 neonates, which entered the External Service of Neonatal Intensive Care (UCINEX) of the Hospital Civil de Guadalajara ''Fray Antonio Alcalde'', in the period 2005-2009 with the diagnostic of congenital malformations (CM) according to the WHO ICD-10. Statistics: measures of central tendency and percentages were done. Results: Two hundred ninety five infants (10.14%) had CM, 67% male and 33% female. CM myelomeningocele was the most frequent (12.9%). The gastrointestinal tract was the most affected with 27.4% of CM, chromosomal abnormalities generated more days of hospitalization (20.5 ± 5.5 days), the cardiovascular system showed 34.2% of deaths. The overall mortality was 14.2%; 60% of CM was treated surgically and 64.5% of the mothers of these infants were living in the metropolitan area of Jalisco State. Conclusions: Knowledge of the contribution of CM to neonatal mortality is important for the integration of preventive measures and plan effective strategies for its prevention, identify their causes and establish treatment. This information highlights the importance of further study of early recognition of the morbidity and mortality in the pediatric population.

Meromelia transversa en las cuatro extremidades con facies característica asociadas al abuso de cocaína en el primer trimestre del embarazo / Transverse meromelia in all four limbs with characteristic facie associated with cocaine abuse in the first trimester of pregnancy

Introducción. Las transiciones demográfica y epidemiológica en México permiten que aumente la frecuencia de enfermedades relacionadas con el consumo de drogas ilegales en mujeres que se encuentran en edad reproductiva. El consumo materno de cocaína durante el embarazo está asociado con efectos teratogénicos en el embrión, principalmente en órganos como cerebro, corazón, tracto genitourinario y extremidades, lo que afecta gravemente su función y la calidad de vida de los recién nacidos. Caso clínico. Paciente masculino de tres días de vida extrauterina que presenta meromelia transversa en las cuatro extremidades con facies característica. La madre informó que consumió cocaína antes y durante el primer trimestre del embarazo; esto se confirmó con el reporte toxicológico de la orina. Conclusiones. Es importante llevar a cabo el estudio de los casos asociados con el consumo de agentes teratogénicos, para ampliar el conocimiento científico, y establecer medidas de prevención y tratamiento de estas patologías.

Background. The epidemiological and demographic transition in Mexico demonstrates the frequency of health-related conditions related to illegal drug use in women of childbearing age. Maternal abuse of cocaine during pregnancy is associated with teratogenic effects in the embryo affecting chiefly brain, heart, urogenital tract and extremities, with serious consequences affecting function and/or quality of life of the newborns. Case report. We present the case of a 3-day-old male who presented transverse meromelia in all four limbs with characteristic facie. Parents reported consumption of cocaine. The mother reported consuming cocaine prior to and during the first trimester of pregnancy and self-report was verified along with toxicological urine testing. Conclusions. Studies associated with consumption of teratogenic agents are important to carry out in order to expand scientific knowledge and to establish measures of prevention and treatment of these pathologies.