Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease.

PARS2 encodes an aminoacyl-tRNA synthetase that catalyzes the ligation of proline to mitochondrial prolyl-tRNA molecules. Diseases associated with PARS2 primarily affect the central nervous system, causing early infantile developmental epileptic encephalopathies (EIDEE; DEE75; MIM #618437) with infantile-onset neurodegeneration. Dilated cardiomyopathy has also been reported in the affected individuals. About 10 individuals to date have been described with pathogenic biallelic variants in PARS2. While many of the reported individuals succumbed to the disease in the first two decades of life, autopsy findings have not yet been reported. Here, we describe neuropathological findings in a deceased male with evidence of intracranial calcifications in the basal ganglia, thalamus, cerebellum, and white matter, similar to Aicardi-Goutières syndrome. This report describes detailed autopsy findings in a child with PARS2-related mitochondrial disease and provides plausible evidence that intracranial calcifications may be a previously unrecognized feature of this disorder.

Clinical Practice Guidelines and Recommendations by the World Association of Perinatal Medicine and Perinatal Medicine Foundation: Reporting Suspected Findings from Fetal Central Nervous System Examination.

These guidelines follow the mission of the World Association of Perinatal Medicine, in collaboration with the Perinatal Medicine Foundation, which brings together groups and individuals worldwide, with the aim to improve prenatal detection of central nervous system anomalies and the appropriate referral of pregnancies with suspected fetal anomalies. In addition, this document provides further guidance for healthcare practitioners with the goal of standardizing the description of ultrasonographic abnormal findings.

[Congenital brain malformations]. / Angeborene Hirnfehlbildungen.

CLINICAL ISSUE: Malformations of the central nervous system belong to the most common developmental disorders in humans. The clinical presentation of brain malformations is nonspecific including developmental delay, hypotonia, and/or epilepsy. The great heterogeneity concerning etiology, mechanisms of development and morphology is challenging for diagnosis and classification of brain malformations. Thereby recognizing specific malformations is essential for optimal patient management and prognostic evaluation. The aim of this article is to give an overview of several clinically relevant brain malformations occurring from different disrupted developmental processes in brain formation. STANDARD RADIOLOGICAL METHODS: Several brain malformations are already diagnosed during routine ultrasound in pregnancy. However pre- and postnatal magnetic resonance imaging remains the gold standard in detecting the partially subtle changes and to classify the malformations. METHODICAL INNOVATIONS: Advances in pre- and postnatal neuroimaging techniques and increasing investigation of genetic mechanisms underlying brain formation and its abnormalities have led to a better understanding of embryologic development and pathogeneses of brain malformations. CONCLUSION: Besides patient's history and clinical phenotype, neuroimaging plays a key role in diagnosis. Not always a specific diagnosis can be made, but neuroimaging patterns often enable a focused genetic testing and therefore are revolutionary for etiologic and prognostic assignment. Basic knowledge of brain development facilitates understanding and classifying of structural brain abnormalities.

Malformación de Chiari Tipo I en adultos. Un enfoque médico-quirúrgico. Parte I / Type I Chiari malformation in adults. A medico-surgical approach. Part I

Se revisó la literatura existente sobre la Malformación de Chiari Tipo I en el adulto, haciendo énfasis en su diagnóstico imagenológico y tratamiento médico-quirúrgico. La malformación de Chiari es una enfermedad poco frecuente. Representa entre el 1 y el 4% de todas las patologías neuroquirúrgicas. El diagnóstico se realiza meses y hasta años después de comenzada la sintomatología y se confirma en el 100% de los casos con Resonancia magnética de cráneo. El tratamiento es quirúrgico en los pacientes sintomáticos, siendo controversial en aquellos oligosintomáticos o con diagnóstico casual. La cirugía siempre debe realizarse con el apoyo de monitoreo neurofisiológico, que puede ser determinante en la técnica quirúrgica a emplear. La mortalidad asociada a la cirugía es muy baja, oscilando entre el 0 y 0,5% según la mayoría de las series. Lo más importante es la selec­ción de los pacientes para el tratamiento quirúrgico. No debe asumirse una actitud expectante en espera de un deterioro neurológico que justifique la cirugía, cuando ésta se hace a tiempo los resultados son mejores y con un mínimo de complicaciones (AU).

The aim of this article is reviewing the existent literature on Type I Chiari malformation in adults and making emphasis in its imaging diagnosis and medico-surgical treatment. Chiari malformation is a few frequent diseases. It represents 1-4 % of all the neurosurgical diseases. The diagnosis is made months and even years after the beginning of the symptoms and it is confirmed by cranial magnetic resonance in the 100 % of the cases. The treatment is surgical in symptomatic patients, and it is controversial in the oligosymptomatic ones and in those with casual diagnosis. The surgery should be performed with the support of neurophysiological monitoring that might be determinant in the surgical technique to use. The mortality associated to the surgery is low, ranging from 0 and 0.5 % according to most of the series. The most important thing is the choice of the patients for the surgical treatment. The neurological deterioration should not be expected to justify the surgery; when the surgery is carried out on time the results are better and with the minimum of complications (AU).