Hemophagocytic lymphohistiocytosis with neurological presentation

MRI findings and a nearly miss diagnosis

L. Chiapparini, G. Uziel, C. Vallinoto, M. G. Bruzzone, A. Rovelli, G. Tricomi, A. Bizzi, N. Nardocci, C. Rizzari, M. Savoiardo

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a rare disease with rarer neurological presentation. When this occurs, diagnosis may be delayed. This report aims to call attention to clinical, laboratory, and radiological features that should prompt the correct diagnosis. A 13-yearold girl presented with progressive increase in intracranial pressure and ataxia. MRI showed a diffuse tumor-like swelling of the cerebellum with tonsillar herniation and patchy white matter post-contrast enhancement. Regression of swelling with steroids ruled out glioma and medulloblastoma, and brain lymphoma was considered. Diagnosis of HLH was reached 2 months after onset when uncontrolled fever and severe elevation of liver enzymes occurred. Two bone marrow biopsies were needed to demonstrate hemophagocytosis. Familial HLH was confirmed by perforin gene mutations. Bone marrow transplantation was performed. The early diagnosis of HLH may be life saving. Awareness of the disease is necessary to investigate its characteristic findings, thus avoiding a delay in diagnosis.

Original languageEnglish
Pages (from-to)473-477
Number of pages5
JournalNeurological Sciences
Volume32
Issue number3
DOIs
Publication statusPublished - Jun 2011

Fingerprint

Hemophagocytic Lymphohistiocytosis
Encephalocele
Perforin
Medulloblastoma
Intracranial Hypertension
Ataxia
Rare Diseases
Bone Marrow Transplantation
Glioma
Cerebellum
Early Diagnosis
Lymphoma
Fever
Bone Marrow
Steroids
Biopsy
Mutation
Liver
Brain
Enzymes

Keywords

  • Brain swelling
  • Epstein-Barr virus
  • Hemophagocytic lymphohistiocytosis
  • Pancytopenia
  • Perforin gene

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology

Cite this

Hemophagocytic lymphohistiocytosis with neurological presentation : MRI findings and a nearly miss diagnosis. / Chiapparini, L.; Uziel, G.; Vallinoto, C.; Bruzzone, M. G.; Rovelli, A.; Tricomi, G.; Bizzi, A.; Nardocci, N.; Rizzari, C.; Savoiardo, M.

In: Neurological Sciences, Vol. 32, No. 3, 06.2011, p. 473-477.

Research output: Contribution to journalArticle

Chiapparini, L. ; Uziel, G. ; Vallinoto, C. ; Bruzzone, M. G. ; Rovelli, A. ; Tricomi, G. ; Bizzi, A. ; Nardocci, N. ; Rizzari, C. ; Savoiardo, M. / Hemophagocytic lymphohistiocytosis with neurological presentation : MRI findings and a nearly miss diagnosis. In: Neurological Sciences. 2011 ; Vol. 32, No. 3. pp. 473-477.
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