19 Result(s)
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Giovanna Stefania Colafati
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Article
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine
Δ1-Pyrroline-5-carboxylate synthetase (P5CS) catalyzes the first two steps of ornithine/proline biosynthesis. P5CS deficiency has been reported in three families, with patients presenting with cutis/joint laxity....
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Article
Open AccessLarge cell anaplastic medulloblastoma metastatic to the scalp: tumor and derived stem-like cells features
Extraneural metastases (ENM) rarely occur in medulloblastoma (MBL) patients and only few cases of subcutaneous localizations have been described. ENM indicate an aggressive disease associated with a worse prog...
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Article
Open AccessMultiple cerebral sinus thromboses complicating meningococcal meningitis: a pediatric case report
Cerebral venous sinus thrombosis (CVT) is a rare and potentially life-threatening condition in the pediatric population. The clinical presentation is frequently nonspecific; thus diagnosis is often delayed or ...
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Open AccessCongenital cystic eye associated with a low-grade cerebellar lesion that spontaneously regressed
Congenital cystic eye is an exceedingly rare ocular malformative disease, originated from the failure in the invagination of the optic vesicle during the fetal period and it can be associated with other ocular...
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Article
Open AccessBehavioral disorders as unusual presentation of pediatric extraventricular neurocytoma: report on two cases and review of the literature
Extraventricular neurocytomas (EVNs) are rare parenchymal brain tumors, distinct from central neurocytomas that are typically located within the supratentorial ventricular system. Seizures and headache represe...
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Article
Open AccessCharacterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup
Fanconi Anemia (FA) is an inherited disorder characterized by the variable presence of multiple congenital somatic abnormalities, bone marrow failure and cancer susceptibility. Medulloblastoma (MB) has been de...
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Article
Cerebral sinovenous thrombosis (CSVT) in children: what the pediatric radiologists need to know
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 a...
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Article
Open AccessPediatric spinal glioblastoma of the conus medullaris: a case report of long survival
High-grade gliomas of the spinal cord represent a rare entity in children. Their biology, behavior, and controversial treatment options have been discussed in a few pediatric cases. These tumors are associated...
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Open AccessAnomalous vascularization in a Wnt medulloblastoma: a case report
Medulloblastoma is the most common malignant brain tumor in children. To date only few cases of medulloblastoma with hemorrhages have been reported in the literature. Although some studies speculate on the pat...
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Article
Fungal infections of the lung in children
Fungal infections of the lungs are relatively common and potentially life-threatening conditions in immunocompromised children. The role of imaging in children with lung mycosis is to delineate the extension o...
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Article
Half-dose versus full-dose macrocyclic gadolinium at 3-T magnetic resonance imaging in paediatric bone and soft-tissue disease
Given the recent concerns about gadolinium-based contrast agent safety, dose reduction strategies are being investigated.
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Article
Classification and ultrasound findings of vascular anomalies in pediatric age: the essential
Proper nomenclature is a major obstacle in understanding and managing vascular anomalies. Often the same term is used for totally different types of lesions or, conversely, the same lesion may be labeled with ...
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Article
Value of structured reporting in neuromuscular disorders
To assess whether structured reports (SRs) of MRI in patients with inherited neuromuscular disorders (IND) provide more clinically relevant information than non-structured reports (NSRs) and whether neuroradio...
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Article
Hypothalamic malformations in patients with X-linked deafness and incomplete partition type 3
Patients with X-linked deafness carry mutations in the POU3F4 gene and have pathognomonic inner ear malformations characterised by symmetrical incomplete partition type 3 (absent modiolus and lamina spiralis b...
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Article
Diagnostic and Dosimetry Features of [64Cu]CuCl2 in High-Grade Paediatric Infiltrative Gliomas
Paediatric diffuse high-grade gliomas (PDHGG) are rare central nervous system neoplasms lacking effective therapeutic options. Molecular imaging of tumour metabolism might identify novel diagnostic/therapeutic...
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Article
Open AccessLong-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report
Ligneous Conjunctivitis (LC) is the most common clinical manifestation of Type I Plasminogen deficiency (T1PD; OMIM# 217090), and it is characterized by the formation of pseudomembranes (due to deposition of f...
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Article
Open AccessResponse to: Trigeminal nerve chronic motor denervation caused by cerebellar peduncle pilocytic astrocytoma
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Article
Open AccessCentral nervous system tumours in neonates: what should the neonatologist know?
Central nervous system (CNS) tumours in neonates are relatively rare and present differently when compared with those occurring later in childhood in terms of aetiology, clinical features, location, histology ...
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Article
Open AccessPediatric torticollis: clinical report and predictors of urgency of 1409 cases
To date, the etiology and risk factors of torticollis are still poorly defined in the pediatric literature. Especially in the Emergency Department (ED) scenario, it is critical to reliably distinguish benign a...
