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J Clin Immunol. 2019 Feb;39(2):171-181. doi: 10.1007/s10875-019-0594-3. Epub 2019 Jan 22.

Neurological Involvement in Childhood Evans Syndrome.

Author information

1
Department of Onco-Hematology, APHP-Trousseau Hospital, Paris, France. thomas.pincez@umontreal.ca.
2
Department of Pediatric Hematology-Oncology, Sainte-Justine University Hospital, Montreal University, Montréal, Québec, Canada. thomas.pincez@umontreal.ca.
3
Pediatric Hematology-Immunology Department, APHP-Necker-Enfants Malades Hospital, Paris, France.
4
Pediatric Radiology department, APHP-Trousseau Hospital, Paris, France.
5
Neuropathology Department, Sainte-Anne Hospital, Paris, France.
6
Centre de Référence National des Cytopénies Autoimmunes de l'Enfant (CEREVANCE), University Hospital of Bordeaux, Bordeaux, France.
7
CIC 1401, INSERM CICP, University Hospital of Bordeaux, Bordeaux, France.
8
Department of Onco-Hematology, APHP-Trousseau Hospital, Paris, France.
9
Department of Hematology, APHP-Robert Debré Hospital, Paris, France.
10
Department of Pediatric Hematology, University Hospital Timone Enfants, Marseille, France.
11
Hôpital des Enfants, University Hospital of Toulouse, Toulouse, France.
12
Department of Pediatric Hematology, University Hospital of Poitiers, Poitiers, France.
13
Department of Hematology, APHP-Necker-Enfants Malades Hospital, Paris, France.
14
Department of Internal Medicine 2, APHP-Pitié-Salpêtrière Hospital, Paris, France.
15
Department of Neurology, APHP-Necker-Enfants Malades Hospital, Paris, France.
16
Clinique Neurologique, Pôle des Neurosciences et de l'Appareil Locomoteur, Lille University, Lille, France.
17
Department of Internal Medicine, University Hospital of Nantes, Nantes, France.
18
Department of Internal Medicine, University Hospital Timone Enfants, Paris, France.
19
Department of Pediatric Hematology, University Hospital of Bordeaux, Bordeaux, France.
20
Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, INSERM UMR-S1163, Paris Descartes University, Paris, France.

Abstract

PURPOSE:

Immune thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA) are associated in the definition of Evans syndrome (ES). The occurrence of neurological involvement in this population is poorly described and suggests an underlying primary immunodeficiency (PID). We aimed to describe the clinical manifestations, evolution, and PID profiles of these patients.

METHODS:

OBS'CEREVANCE is a French, nationwide prospective cohort that includes children with chronic ITP, AIHA, and ES. Patients with a neurological involvement were described. Centralized radiological and pathological reviews and genetic analyses were performed.

RESULTS:

On October 2016, eight patients (7/181 ES, 1/371 AIHA, and 0/615 ITP) were identified, all male, with a median age (range) at cytopenia onset of 11.5 years (1.6-15.8). Neurological symptoms appeared with a median delay of 6 years (2.5-18) after cytopenia and were polymorphic: seizures (n = 4), cranial nerve palsy (n = 2), Brown-Sequard syndrome (n = 2), intracranial pressure (n = 2), vertigo (n = 1), and/or sensory neuropathy (n = 1). Magnetic resonance imaging (MRI) showed inflammatory lesions, confirmed by pathology for five patients with macrophagic or lymphoplasmocytic infiltrates. All patients had other relevant immunopathological manifestations: pulmonary nodules (n = 6), lymphoproliferation (n = 4), abnormal immunophenotype (n = 8), and hypogammaglobulinemia (n = 7). Treatment consisted of steroids that improved symptomatology and MRI. Five patients relapsed and three had an asymptomatic radiological progression. A PID was identified in 3/8 patients: 22q11.2 microdeletion (n = 1) and CTLA deficiency (n = 2).

CONCLUSION:

Neurological involvement is a rare and severe late event in the course of childhood ES, which can reveal an underlying PID. Imaging and pathology examination highlight a causative immune dysregulation that may guide targeted therapeutic strategies.

KEYWORDS:

Autoimmune cytopenia; CTLA deficiency; Evans syndrome; lymphoproliferation; neurological disorder; primary immunodeficiency

PMID:
30671780
DOI:
10.1007/s10875-019-0594-3

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