Neurological expression of genetic immunodeficiencies and of opportunistic infections

Tardieu, Marc; Kevin, Rostasy

doi:10.1016/b978-0-444-52910-7.00044-1

Cited by 4 publications

(4 citation statements)

References 30 publications

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“…Lesions may enhance and may present diffusion restriction. 194,195 Basal ganglia and infratentorial involvement are less common. Atrophy, intraparenchymal calcifications, or subdural fluid collections may characterize the MRI of the brain in the chronic phases.…”

Section: Neurosarcoidosismentioning

confidence: 99%

Neuroimaging in Pediatric Autoimmune Diseases

Longoni

Banwell

2017

J Pediatr Neurol

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Magnetic resonance imaging plays an essential role in the diagnosis and management of pediatric central nervous system (CNS) autoimmune disorders. This article reviews the key clinical and conventional neuroimaging characteristics of the most frequent entities of the demyelinating disease spectrum, with a goal to inform and guide decisions in the clinical practice. We focus on acquired demyelinating syndromes and their differential diagnoses including mimics such as systemic inflammatory disorders with secondary CNS involvement. In the vast majority of disorders, no specific biomarker of disease is known and the final diagnosis is based on recognizable syndromic characteristics. Therefore, familiarity with the related neuroimaging patterns can improve a timely diagnosis of pediatric autoimmune diseases and prompt targeted therapeutic approach.

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Section: Neurosarcoidosismentioning

confidence: 99%

Neuroimaging in Pediatric Autoimmune Diseases

Longoni

Banwell

2017

J Pediatr Neurol

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“…[1][2][3][4] However, HLH is also characterized by multivisceral involvement, in which neurological symptoms are common and sometimes even the first manifestations of the disease. 3,[5][6][7][8] Once again, a complete infectious workup is inconclusive. A new MRI showed evidence of a more severe cerebellar damage with a significant bilateral and symmetrical edema affecting the whole cerebellum (A).…”

mentioning

confidence: 99%

“…Moreover, the child presented also characteristic features of hemophagocytic lymphohistiocytosis (HLH) such as persistent fever, pancytopenia, hepatosplenomegaly, and a biological inflammatory syndrome [1][2][3][4]. However, HLH is also characterized by multivisceral involvement, in which neurological symptoms are common and sometimes even the first manifestations of the disease 3,[5][6][7][8]. Once again, a complete infectious workup is inconclusive.…”

mentioning

confidence: 99%

“…It also showed the appearance of supratentorial signal abnormalities involving the gray and white matter, mainly in the subcortical area ( B ; arrow 1, increasing FLAIR intensity related to frontal lesion; arrow 2, cerebellar edema). Acute disseminated encephalomyelitis was one of the hypotheses retained, which is one of the main differential diagnoses with HLH 6 …”

mentioning

confidence: 99%

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Central Nervous System Involvement of Hemophagocytic Lymphohistiocytosis

Allard

Delcroix

Lez-Soquet³

et al. 2021

Clin Nucl Med

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Hemophagocytic lymphohistiocytosis is rare life-threatening syndrome, hereditary or acquired, mainly affecting children. Hemophagocytic lymphohistiocytosis is an immune deficiency characterized by severe inflammation caused by uncontrolled proliferation of activated lymphocytes and macrophages. The usual biological and clinical data may associate polyadenopathy, hepatosplenomegaly, fever, multivisceral damages, and cytopenias with potential multiorgan dysfunction and death. We report the case of a 4-year-old girl, hospitalized for recurrent cerebellar symptoms (ataxia) associated later with fever and pancytopenia. 18F-FDG PET/CT revealed a node pathological uptake, which was biopsied and confirmed a diagnosis of hemophagocytic lymphohistiocytosis.

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Brain MRI imaging markers associated with death in children with central nervous system involvement of hemophagocytic lymphohistiocytosis

Ma,

Zhou,

et al. 2023

Eur Radiol

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Neurological expression of genetic immunodeficiencies and of opportunistic infections

Cited by 4 publications

References 30 publications

Neuroimaging in Pediatric Autoimmune Diseases

Neuroimaging in Pediatric Autoimmune Diseases

Central Nervous System Involvement of Hemophagocytic Lymphohistiocytosis

Brain MRI imaging markers associated with death in children with central nervous system involvement of hemophagocytic lymphohistiocytosis

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