Abstract
Familial hemophagocytic lymphohistiocytosis is an inherited deficiency of natural killer cell function and excessive cytokine activity, which predominantly presents in early childhood. The initial symptoms of familial hemophagocytic lymphohistiocytosis are often nonspecific but may be predominantly neurologic. The case presented here describes an 18-month-old boy who initially presented with fever, encephalopathy, and hemiparesis. He had innumerable brain lesions visualized on magnetic resonance imaging scans. An infectious etiology was excluded, and brain, liver, and bone marrow biopsies were nonspecific but consistent with hemophagocytic lymphohistiocytosis. Cells were sent for flow cytometry perforin analysis, which demonstrated defective natural killer cell function. A diagnosis of familial hemophagocytic lymphohistiocytosis was confirmed by mutation analysis and decreased expression of the perforin gene, in the patient and immediate family members. These results showed the patient to be a compound heterozygote for perforin mutations. His case illustrates the potential for a fulminant neurological presentation of familial hemophagocytic lymphohistiocytosis with widespread lesions in the brain.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 863-868 |
| Number of pages | 6 |
| Journal | Journal of Child Neurology |
| Volume | 22 |
| Issue number | 7 |
| DOIs | |
| State | Published - Jul 2007 |
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Keywords
- Hemophagocytic
- Lymphohistiocytosis
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
Cite this
A neurologic presentation of familial hemophagocytic lymphohistiocytosis which mimicked septic emboli to the brain. / Turtzo, L. Christine; Lin, Doris; Hartung, Helge; Barker, Peter B; Arceci, Robert; Yohay, Kaleb.
In: Journal of Child Neurology, Vol. 22, No. 7, 07.2007, p. 863-868.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A neurologic presentation of familial hemophagocytic lymphohistiocytosis which mimicked septic emboli to the brain
AU - Turtzo, L. Christine
AU - Lin, Doris
AU - Hartung, Helge
AU - Barker, Peter B
AU - Arceci, Robert
AU - Yohay, Kaleb
PY - 2007/7
Y1 - 2007/7
N2 - Familial hemophagocytic lymphohistiocytosis is an inherited deficiency of natural killer cell function and excessive cytokine activity, which predominantly presents in early childhood. The initial symptoms of familial hemophagocytic lymphohistiocytosis are often nonspecific but may be predominantly neurologic. The case presented here describes an 18-month-old boy who initially presented with fever, encephalopathy, and hemiparesis. He had innumerable brain lesions visualized on magnetic resonance imaging scans. An infectious etiology was excluded, and brain, liver, and bone marrow biopsies were nonspecific but consistent with hemophagocytic lymphohistiocytosis. Cells were sent for flow cytometry perforin analysis, which demonstrated defective natural killer cell function. A diagnosis of familial hemophagocytic lymphohistiocytosis was confirmed by mutation analysis and decreased expression of the perforin gene, in the patient and immediate family members. These results showed the patient to be a compound heterozygote for perforin mutations. His case illustrates the potential for a fulminant neurological presentation of familial hemophagocytic lymphohistiocytosis with widespread lesions in the brain.
AB - Familial hemophagocytic lymphohistiocytosis is an inherited deficiency of natural killer cell function and excessive cytokine activity, which predominantly presents in early childhood. The initial symptoms of familial hemophagocytic lymphohistiocytosis are often nonspecific but may be predominantly neurologic. The case presented here describes an 18-month-old boy who initially presented with fever, encephalopathy, and hemiparesis. He had innumerable brain lesions visualized on magnetic resonance imaging scans. An infectious etiology was excluded, and brain, liver, and bone marrow biopsies were nonspecific but consistent with hemophagocytic lymphohistiocytosis. Cells were sent for flow cytometry perforin analysis, which demonstrated defective natural killer cell function. A diagnosis of familial hemophagocytic lymphohistiocytosis was confirmed by mutation analysis and decreased expression of the perforin gene, in the patient and immediate family members. These results showed the patient to be a compound heterozygote for perforin mutations. His case illustrates the potential for a fulminant neurological presentation of familial hemophagocytic lymphohistiocytosis with widespread lesions in the brain.
KW - Hemophagocytic
KW - Lymphohistiocytosis
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U2 - 10.1177/0883073807304203
DO - 10.1177/0883073807304203
M3 - Article
VL - 22
SP - 863
EP - 868
JO - Journal of Child Neurology
JF - Journal of Child Neurology
SN - 0883-0738
IS - 7
ER -