RESUMEN
Cerebral sinovenous thrombosis (CSVT) is a relatively uncommon and potentially life-threatening condition in childhood, occurring in various clinical settings. Nowadays, however, it is increasingly diagnosed as related to many causes, likely due to greater clinical awareness and improvement of neuroradiologic techniques. The prompt diagnosis is an important goal to significantly reduce the risk of acute complications and long-term sequelae. The purpose of this narrative overview is to provide a useful educational tool in daily clinical practice for radiologists with a broad perspective of CSVT including a discussion of more common potential pitfalls related to misinterpretation of images in children. This paper will also review the normal venous anatomy, its variants, risk factors that contribute to cause CSVT (neonates with their specific causes of CSVT are not included in this review) and the practical imaging feature of cerebral sinovenous thrombosis on MRI and CT. Finally, a brief overview of frequent and severe CSVT conditions in children with key points in imaging is shown.
Asunto(s)
Imagen por Resonancia Magnética , Trombosis de los Senos Intracraneales/diagnóstico , Tomografía Computarizada por Rayos X , Niño , Imagen de Difusión por Resonancia Magnética/métodos , Humanos , Imagen por Resonancia Magnética/métodos , Valor Predictivo de las Pruebas , Factores de Riesgo , Sensibilidad y Especificidad , Trombosis de los Senos Intracraneales/etiología , Tomografía Computarizada por Rayos X/métodosRESUMEN
Congenital malformations of the eye represent a wide and heterogeneous spectrum of abnormalities that may be part of a complex syndrome or be isolated. Ocular malformation severity depends on the timing of the causative event during eye formation, ranging from the complete absence of the eye if injury occurs during the first weeks of gestation, to subtle abnormalities if the cause occurs later on. Knowledge of ocular malformations is crucial to performing a tailored imaging protocol and correctly reporting imaging findings. Together with the ophthalmologic evaluation, imaging may help frame ocular malformations and identify underlying genetic conditions. The purpose of this pictorial review is to describe the imaging features of the main ocular malformations and the related ophthalmologic findings in order to provide a clinico-radiological overview of these abnormalities to the clinical radiologist. Sight is a crucial sense for children to explore the world and relate with their parents from birth. Vision impairment or even blindness secondary to ocular malformations deeply affects children's growth and quality of life.
RESUMEN
GPR56-related bilateral frontoparietal polymicrogyria (BFPP) is a rare recessively inherited disorder of neuronal migration caused by mutations of GPR56. To better delineate the clinical, molecular, and neuroradiological phenotypes associated with BFPP, we performed conventional magnetic resonance imaging and diffusion tensor imaging studies in a series of prospectively enrolled patients carrying novel GPR56 mutations. All subjects with GPR56-related BFPP showed a characteristic morphological pattern, including abnormalities of the cerebellar cortex with cerebellar cysts located at the periphery, a mildly thick corpus callosum, and a flat pons. Significant alterations of myelination and white matter tract abnormalities were documented. The present study confirms the phenotypic overlap between GPR56-related brain dysgenesis and other cobblestone-like syndromes and illustrates the contribution of 3D neuroimaging in the characterization of malformations of cortical development.
Asunto(s)
Encéfalo/diagnóstico por imagen , Lisencefalia de Cobblestone/diagnóstico por imagen , Lisencefalia de Cobblestone/genética , Mutación , Receptores Acoplados a Proteínas G/genética , Secuencia de Bases , Preescolar , Estudios de Cohortes , Análisis Mutacional de ADN , Imagen de Difusión Tensora , Femenino , Estudios de Asociación Genética , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Mutación/fisiología , Fenotipo , RadiografíaRESUMEN
Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, hypopigmentation, cataract, cardiomyopathy, and immunological abnormalities. Recurrent infections, mainly affecting the respiratory tract, have been reported in the majority of cases, representing an important risk factor for morbidity and mortality. The immunological phenotype of patients is extremely variable, ranging from a combined immunodeficiency to nearly normal immunity. We report on a new patient with Vici syndrome, in whom we have extensively investigated immunological features. Despite a mild impairment of the cellular compartment, a defect of humoral immunity was found, requiring treatment with intravenous immunoglobulin. A wider knowledge of immune system abnormalities of Vici syndrome will help to plan strategies for treatment and prevention of infections, such as immunoglobulin replacement and antimicrobial prophylaxis, resulting in improved survival rates.
Asunto(s)
Agammaglobulinemia/inmunología , Agenesia del Cuerpo Calloso/inmunología , Agenesia del Cuerpo Calloso/patología , Catarata/inmunología , Catarata/patología , Cuerpo Calloso/patología , Inmunidad Humoral/inmunología , Síndromes de Inmunodeficiencia/patología , Agammaglobulinemia/patología , Agenesia del Cuerpo Calloso/tratamiento farmacológico , Catarata/tratamiento farmacológico , Preescolar , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Masculino , FenotipoRESUMEN
BACKGROUND: Mitochondrial quality control (MQC) is crucial for maintaining mitochondrial fitness. We investigated MQC signaling in muscle of old hip-fractured patients. METHODS: Twenty-three patients, enrolled in the Sarcopenia in HIp FracTure (SHIFT) study, were categorized into old (OL; n=8) and very old groups (VOL; n=15) using 85years as the cut-off. The expression of a set of MQC signaling proteins was assayed in vastus lateralis muscle biopsies. RESULTS: The content of lysosome-associated membrane protein 2, microtubule-associated protein 1 light chain 3B, optic atrophy protein 1, fission protein 1 (Fis1), peroxisome proliferator-activated receptor-γ coactivator-1α, and forkhead box O3 was unvaried between groups. Conversely, the protein expression of mitofusin 2 (Mfn2) as well as the fusion index (Mfn2/Fis1) was increased in VOL patients. CONCLUSIONS: Muscle mitochondrial dynamics appear to be shifted toward fusion in very advanced age. Whether this phenomenon represents an adaptation to cope with age-dependent mitochondrial dysfunction warrants further investigation.
Asunto(s)
Fracturas de Cadera/fisiopatología , Mitocondrias Musculares/fisiología , Dinámicas Mitocondriales/fisiología , Sarcopenia/fisiopatología , Factores de Edad , Anciano de 80 o más Años , Femenino , Proteína Forkhead Box O3/metabolismo , Humanos , Proteína 2 de la Membrana Asociada a los Lisosomas/metabolismo , Masculino , Proteínas Asociadas a Microtúbulos/metabolismo , Proteínas Musculares/metabolismo , Transducción de Señal/fisiologíaRESUMEN
BACKGROUND: Trilateral retinoblastoma (TRB) is a rare disease associating bilateral retinoblastoma (RB) with primitive intracranial neuroblastic tumor. AIM: To verify the occurrence of TRB in a single-Center case series and point out the clinical relevance of a baseline brain magnetic resonance imaging (MRI) in RB, focusing on pineal gland lesions. PATIENTS AND METHODS: Baseline MRI was routinely performed in all cases of RB from 1999. All MRIs were reviewed for this study and the RB database was checked in order to identify patients characteristics, treatments and follow-up. RESULTS: A total of 107 patients with RB were diagnosed between 1999 and 2012. Sixty-two patients had unilateral RB and 45 bilateral RB. MRI revealed the presence of pineal gland lesions in 10 patients (9%); seven were considered pineal benign cysts (6.5%), while in three patients (2.8%), TRB was suspected. All patients with TRB presented hereditary RB. In one patient, the suspected TRB was metachronous and in the other two patients was synchronous. Biopsy was not performed. Cerobrospinal fluid (CSF) was negative in all patients. The MRI modification, before treatment in the first case and later in the second case, confirmed the TRB diagnosis. The third patient died due to progressive Central Nervous System (CNS) disease that clearly confirmed the TRB diagnosis. None of the three patients had received prior chemotherapeutic treatment. DISCUSSION: TRB represents a rare condition in this series, occurring in three (2.8%) out of all patients with RB. A synchronous presentation with small lesion seems more frequent when a baseline MRI is performed. When a histologically-proven diagnosis is not available, a suspected diagnosis should be considered with caution and only follow-up will confirm the diagnosis. A wait-and-see approach should be considered.
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Neoplasias Encefálicas/diagnóstico , Glándula Pineal/patología , Pinealoma/diagnóstico , Neoplasias de la Retina/diagnóstico , Retinoblastoma/diagnóstico , Detección Precoz del Cáncer/métodos , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Retinoblastoma/líquido cefalorraquídeoRESUMEN
Mutations of TUBA1A gene were first identified as causing a distinctive neuroradiologic phenotype characterized by cortical abnormalities ranging from classical lissencephaly to perisylvian pachygyria with dysgenetic corpus callosum, brainstem and cerebellum. We describe the clinical and neuroradiological features of a 3 years old girl carrying a novel missense TUBA1A mutation associated with asymmetrical polymicrogyria and provide structural data about the mutation. Our case confirm that the spectrum of tubulin-related cortical phenotypes is wide and that the screening of these genes should be implemented in patients with mid-hindbrain dysgenesis, partial of complete corpus callosum agenesis and varying degrees of cortical abnormalities.
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Lisencefalia/genética , Malformaciones del Desarrollo Cortical/genética , Mutación/genética , Tubulina (Proteína)/genética , Animales , Preescolar , Biología Computacional , Análisis Mutacional de ADN , Femenino , Humanos , Lisencefalia/complicaciones , Imagen por Resonancia Magnética , Malformaciones del Desarrollo Cortical/complicaciones , Modelos MolecularesRESUMEN
Lateral sinus thrombosis (LST) is an uncommon, but life-threatening complication of both acute and chronic otitis media. There is some evidence that acquired or hereditary prothrombotic disorders are risk factors for LST. The aim of this work was to evaluate the role of thrombotic screening, anticoagulant therapy or prophylaxis in patients with either acute or chronic otitis media and LST. The medical records of five children hospitalized at Pediatric Hospital Bambino Gesù of Rome because of acute or chronic otitis media complicated by mastoiditis and LST were reviewed. All children underwent laboratory workup for hypercoagulability. All the five children were found to be heterozygote for the C677T MTHFR mutation and a child presented also heterozygosity for factor V Leiden mutation. They have been successfully treated with anticoagulant therapy without sequels. Children with acute or chronic otitis media may have a prothrombotic tendency that becomes clinically evident because of the inflammatory state. Patients with a family and/or personal history of thrombosis and/or thrombophilic conditions need anticoagulant prophylaxis also in the absence of clear signs of LST. Treatment with low molecular weight is successful in patients with LST.
Asunto(s)
Trombosis del Seno Lateral/genética , Mastoiditis/genética , Otitis Media/complicaciones , Otitis Media/genética , Niño , Preescolar , Factor V/genética , Femenino , Humanos , Trombosis del Seno Lateral/sangre , Trombosis del Seno Lateral/etiología , Masculino , Mastoiditis/sangre , Mastoiditis/complicaciones , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Otitis Media/sangre , Protrombina/genética , Factores de RiesgoRESUMEN
Parry-Romberg syndrome (PRS) is a sporadic disease of unknown etiology with typical onset in childhood or in young adults. It is characterized by a slow and progressive atrophy affecting one side of the face, the skin, the subcutaneous tissue, the muscles, the cartilages, and the underlying bony structures. The neurological symptoms usually include focal epilepsy, migraine, and unilateral brain lesions on the same side as the atrophy. A common neuroimaging finding of the syndrome is white matter high signal intensity on brain magnetic resonance (MR) imaging. Rasmussen encephalitis (RE) is a rare and chronic inflammatory disease of the brain that begins in the first decade of life and more rarely in adolescents and adults. It usually involves one hemisphere with focal cortical inflammation. Neurologic symptoms are intractable seizures and progressive hemiplegia. Both PRS and RE are often associated with other inflammatory or autoimmune disorders and only 1 case of both syndromes has been reported in literature. We report the clinical and neuroradiological findings in a 6-year-old boy, presenting with focal hemifacial and arm motor seizures and progressive facial hemiatrophy. Serial MR imaging studies revealed progressive brain hemispheric signal alterations and atrophy. This would thus suggest acoexistence of PRS and RE.