RESUMO
Adams-Oliver syndrome (AOS) is diagnosed in presence of aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). The autosomal recessive (AR) DOCK6-related form of AOS is most often associated with a severe phenotype including also central nervous system and ocular abnormalities. We report a sister and brother with different expression of the phenotype. Both were compound heterozygous pathogenic variants in the DOCK6 gene, including a heterozygous c.5939+2T > C intronic variant that was maternally inherited, and a heterozygous deletion of exons 10 to 21 that was paternally inherited. The sister had microcephaly, periventricular calcifications, minor retinal vasculopathy, and mild impaired neurodevelopment, but only very subtle limb abnormalities and no ACC. Her brother showed a classical DOCK6-related AOS phenotype, including a severe bilateral peripheral ischemic retinopathy. From a review of 22 molecularly confirmed cases with DOCK6-related AOS with ophthalmic examination, we found that 16 of them had retinal vascular pathology (72.7%), confirming as the major ocular anomaly. Documented intrafamilial variability in our family and the evidence revised from previous reports, confirm that AR DOCK6-related AOS expressivity can produce a "milder" phenotype without ACC or TTLD, which could be underdiagnosed in simplex cases because it is difficult to recognize out of a familial context. Therefore, in order to know its real magnitude is required the future inclusion of DOCK6 gene in NGS panels directed to the study of simplex cases of patients with microcephaly, periventricular calcifications, retinal vasculopathy, and/or cardiovascular defects.
Assuntos
Displasia Ectodérmica , Deformidades Congênitas dos Membros , Microcefalia , Feminino , Humanos , Masculino , Variação Biológica da População , Displasia Ectodérmica/genética , Displasia Ectodérmica/diagnóstico , Fatores de Troca do Nucleotídeo Guanina/genética , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas dos Membros/diagnóstico , Microcefalia/genética , Couro CabeludoRESUMO
Intracranial calcifications, which are common in the daily routine of radiologists, can have a physiological or pathological origin. Determining the cause of intracranial calcifications can represent a challenge. The anatomical location, distribution, dimensions and morphology of such calcifications are important findings, which, in conjunction with the clinical history and age group, can facilitate the differential diagnosis. The aim of this pictorial essay is to demonstrate the different types of intracranial calcifications and their origins. The images evaluated were those stored in picture archiving and communication systems. All of the cases included were studied by computed tomography, magnetic resonance imaging, or both. We identified, classified, and described 64 types of intracranial calcifications.
Calcificações intracranianas fazem parte da rotina do médico radiologista, as quais podem ter origem fisiológica ou patológica. A diferenciação entre as calcificações pode representar um desafio. Localização anatômica, distribuição, dimensões e morfologia das calcificações são importantes achados que, associados a história clínica e faixa etária, podem ajudar no diagnostico diferencial. O objetivo deste estudo é demonstrar os diferentes tipos de calcificações intracranianas e suas origens. Foram avaliadas as imagens armazenadas no sistema de comunicação e arquivamento de imagens das unidades. Todos os casos inclusos foram estudados por tomografia computadorizada e/ou ressonância magnética. Foram encontrados 64 tipos de calcificações intracranianas, que foram classificadas e descritas.
RESUMO
Abstract Intracranial calcifications, which are common in the daily routine of radiologists, can have a physiological or pathological origin. Determining the cause of intracranial calcifications can represent a challenge. The anatomical location, distribution, dimensions and morphology of such calcifications are important findings, which, in conjunction with the clinical history and age group, can facilitate the differential diagnosis. The aim of this pictorial essay is to demonstrate the different types of intracranial calcifications and their origins. The images evaluated were those stored in picture archiving and communication systems. All of the cases included were studied by computed tomography, magnetic resonance imaging, or both. We identified, classified, and described 64 types of intracranial calcifications.
Resumo Calcificações intracranianas fazem parte da rotina do médico radiologista, as quais podem ter origem fisiológica ou patológica. A diferenciação entre as calcificações pode representar um desafio. Localização anatômica, distribuição, dimensões e morfologia das calcificações são importantes achados que, associados a história clínica e faixa etária, podem ajudar no diagnostico diferencial. O objetivo deste estudo é demonstrar os diferentes tipos de calcificações intracranianas e suas origens. Foram avaliadas as imagens armazenadas no sistema de comunicação e arquivamento de imagens das unidades. Todos os casos inclusos foram estudados por tomografia computadorizada e/ou ressonância magnética. Foram encontrados 64 tipos de calcificações intracranianas, que foram classificadas e descritas.
RESUMO
PURPOSE: The aim of this study is to describe some radiological features in the newborns with microcephaly caused by Zika virus infection during pregnancy. METHODS: We radiologically analyzed 13 cases of newborns with microcephaly born to mothers who were infected by the Zika virus in the early stage of pregnancy. RESULTS: The most frequently observed radiological findings were microcephaly and decreased brain parenchymal volume associated with lissencephaly, ventriculomegaly secondary to the lack of brain tissue (not hypertensive), and coarse and anarchic calcifications mainly involving the subcortical cortical transition, and the basal ganglia. CONCLUSIONS: Although it cannot be concluded that there is a definitive pathognomonic radiographic pattern of microcephaly caused by Zika virus, gross calcifications and anarchic distribution involving the subcortical cortical transition and the basal ganglia, in association with lissencephaly and in the absence of hypertensive ventriculomegaly, are characteristic of this type of infection.