Atypical neuroimaging characteristics of hemophagocytic lymphohistiocytosis in infants: a case series of hemorrhagic brain lesions in the deep grey matter

Neda Pak,Marjolein H G Dremmen,Rinze F Neuteboom,Andrica C H De Vries,Maayke A W Hunfeld,Maarten H Lequin,Andre A Kroon,Anseh Selehnia

doi:10.1007/s00234-020-02595-6

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a rare multisystem condition associated with uncontrolled overproduction and infiltration of lymphocytes and histiocytes predominantly in liver, lymph nodes, spleen, and central nervous system. Neuroimaging findings on MRI are fairly nonspecific and classically include periventricular white matter signal abnormalities and diffuse atrophy. Focal parenchymal lesions may demonstrate post contrast ring or nodular enhancement and calcification. However, the MR imaging characteristics can be highly variable. Here, we present two cases of HLH in infants with multiple hemorrhagic lesions mostly depicted in both thalami and basal ganglia regions. Thalamic, basal ganglia, and brain stem involvement with hemorrhagic changes in HLH are rarely described in literature. Early diagnosis of HLH may be lifesaving. Awareness of the disease is necessary to investigate its characteristic findings and avoiding a delay in diagnosis.

Highlights

Hemophagocytic lymphohistiocytosis (HLH) is an uncommon life-threatening hematologic disease more prevalent in children than in adults
This review presents two cases of HLH with multiple hemorrhagic lesions mostly depicted in both thalami and basal ganglia region
Because of the predominant involvement of the basal ganglia and especially the thalami with multiple hemorrhagic lesions, HLH with central nervous system (CNS) involvement was not considered as most likely diagnosis based on the imaging findings

Summary

Introduction

Hemophagocytic lymphohistiocytosis (HLH) is an uncommon life-threatening hematologic disease more prevalent in children than in adults. Involvement of deep gray matter and hemorrhagic lesions are rare findings in HLH disease [5]. This review presents two cases of HLH with multiple hemorrhagic lesions mostly depicted in both thalami and basal ganglia region. A 3-month-old girl presented with poor feeding, vomiting, altered state of consciousness, and pallor Her mother passed away 2 weeks after (a non-complicated) delivery, because of pulmonary edema followed by multi-organ failure (no autopsy performed). Because of the predominant involvement of the basal ganglia and especially the thalami with multiple hemorrhagic lesions, HLH with CNS involvement was not considered as most likely diagnosis based on the imaging findings. Postmortem brain tissue study revealed extensive cavitating changes of both white and gray matter with influx of macrophages and histiocytes and lack of demonstrable micro-organisms in keeping with the suspected diagnosis of HLH with CNS involvement. In the cerebellum blood products in a later subacute stage were seen

Discussion

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