Sospecha clínica y estudios diagnósticos iniciales en enfermedades metabólicas hereditarias / Clinical suspicion and initial diagnostic studies in inherited metabolic diseases

Las enfermedades metabólicas hereditarias (EMH) constituyen un grupo diverso y complejo de trastornos genéticos que, aunque individualmente son poco frecuentes, en su conjunto representan una importante causa de morbilidad y mortalidad. Se lleva a cabo una revisión exhaustiva de la literatura con el objetivo de proporcionar información que oriente la sospecha clínica y el enfoque en los estudios diagnósticos iniciales, cuya clave reside en una anamnesis completa que abarque los antecedentes familiares y obstétricos, junto con una consideración cuidadosa de las manifestaciones clínicas del paciente. Es crucial tener en cuenta la naturaleza multisistémica de estas enfermedades que pueden manifestarse desde el periodo neonatal, generalmente como intoxicaciones agudas, hasta una presentación más insidiosa en adultos jóvenes. Si la evaluación clínica sugiere la posibilidad de una EMH, es fundamental llevar a cabo medidas de apoyo general y realizar investigaciones de laboratorio de manera simultánea. En neonatos, donde la presentación de una EMH puede representar una emergencia médica que requiere una respuesta inmediata, esta acción es especialmente crítica. El diagnóstico de las EMH representa un desafío debido a su variabilidad clínica y sintomatología heterogénea. Sin embargo, la identificación temprana de estas enfermedades es fundamental para iniciar un tratamiento oportuno y mejorar el pronóstico de los pacientes.(AU)

Inherited metabolic diseases (IMDs) constitute a diverse and complex group of genetic disorders that, although individually rare, collectively represent a significant cause of morbidity and mortality. A comprehensive literature review is carried out with the aim of providing information to guide clinical suspicion and the approach to initial diagnostic studies, the key of which lies in a complete medical history encompassing family and obstetric backgrounds, along with careful consideration of the patient’s clinical manifestations. It is crucial to consider the multisystemic nature of these diseases, which can manifest from the neonatal period, usually as acute intoxications, to a more insidious presentation in young adults. If clinical evaluation suggests the possibility of an IMD, it is essential to implement general supportive measures and simultaneously perform laboratory investigations. In neonates, where the presentation of an IMD can represent a medical emergency requiring an immediate response, this action is especially critical. The diagnosis of IMDs poses a challenge due to their clinical variability and heterogeneous symptomatology. However, early identification of these diseases is crucial for initiating timely treatment and improving patient prognosis.(AU)

Percentiles de carnitina y acilcarnitinas en muestras de cribado neonatal de prematuros de muy bajo peso / Carnitine and acylcarnitine percentiles in very low birth weight premature newborn screening samples

No disponible

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

Neonatal screening of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is of major importance due to the significant morbidity and mortality in undiagnosed patients. MCADD screening has been performed routinely in Galicia since July 2000, and until now 199,943 newborns have been screened. We identified 11 cases of MCADD, which gives an incidence of 1/18,134. During this period, no false negative screens have been detected. At diagnosis, all identified newborns were asymptomatic. Our data showed that octanoylcarnitine (C8) and C8/C10 ratio are the best markers for screening of MCADD. C8 was increased in all patients and C8/C10 was increased in all but one patient.The common mutation, c.985A > G, was found in homozygosity in seven newborns and in compound heterozygosity in three, while one patient did not carry the common mutation at all. In addition, two novel mutations c.245G > C (p.W82S) and c.542A > G (p.D181G) were identified. Ten of the 11 identified newborns did not experience any episodes of decompensation. The patient with the highest level of medium chain acylcarnitines at diagnosis, who was homozygous for the c.985A > G mutation, died at the age of 2 years due to a severe infection.This is the first report of the results from neonatal screening for MCADD in Spain. Our data provide further evidence of the benefits of MCADD screening and contribute to better understanding of this disease.

Meningitis neonatal por enterovirus. Experiencia de un caso y revisión del tema / Enterovirus induced neonatal meningitis. A case report and review of the subject

Presentamos un caso de meningitis por enterovirus diagnosticada mediante reacción en cadena de polimerasa en una recién nacida en 37 semanas de edad gestacional y seis días de vida, de probable etiología congénita. Las infecciones por enterovirus constituyen una causa frecuente de infección en recién nacidos pese a no estar incluidas en el diagnóstico diferencial habitual de la sepsi neonatal. La presencia de clínica materna compatible puede orientar el diagnóstico en los casos de transmisión vertical. Su identificación precoz en estos casos permite acortar el tratamiento antibiótico empírico innecesario y la hospitalización y realizar un adecuado seguimiento de las posibles complicaciones. El tratamiento antiviral con pleconaril se contempla en casos graves, aunque actualmente la indicación de tratamiento en neonatos no está bien establecida. El caso descrito siguió una evolución favorable con pruebas de neuroimagen y seguimiento neurológico hasta los seis meses de vida normal. En el trabajo se revisan las manifestaciones clínicas, el diagnóstico y las perspectivas actuales de tratamiento de las infecciones neonatales pro enterovirus (AU)

We report a case of a 36 week gestational age female diagnosed with enterovirus meningitis by polymerase chain reaction at 6 days of age, probably by congenital transmission. Enterovirus are a common cause of neonatal infection, frequently under diagnosed because they are not usually included in the differential diagnoses of the neonatal sepsis. Maternal compatible symptoms could help to the diagnoses in the cases with vertical transmission. An early enterovirus identification may reduce the length of antibiotic treatment and hospitalization and allow an accurate follow up, alerting of complications. Antiviral treatment with pleconaril is accepted in severe cases, but nowadays there is a lack of consensuate indication for the treatment of neonatal a enterovirus infections. The evolution of the present case was favorable with a normal neurological development until the sixth month of age and without abnormalities in the neuroimaging. This article reviews the clinical manifestations, the diagnoses and the potential treatment for enterovirus infections in (AU)

Demonstration of apoptosis in human skin injuries as an indicator of vital reaction.

Demonstrating the vital character of an injury and estimation of the age are routine tasks in forensic pathology and although many different techniques have been applied to this problem none have been found to be completely satisfactory. Apoptosis, an active genetically controlled process, is the major mechanism by which homeostasis of a number of physiological systems in the body is regulated and changes in the rate following different kinds of stimuli have prompted us to test it as an indicator of vitality. We used an in situ end-labelling technique (Apop-Tag) in 30 human surgical skin injuries with age since injury ranging from 3 min to 8 h and found that apoptotic keratinocytes are found in over 50% of the cases with a post-infliction interval of at least 120 min. Apoptosis was not seen in injuries less than 120 min old or in normal skin, which was used as an external control. These results suggest that apoptosis could be a useful indicator for the intravital occurrence of injuries and could help to estimate the date of the skin injuries in some cases. The importance of strict technical control is stressed and the necessity of a complementary technique to confirm apoptosis is discussed.