Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis.

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-year-old 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.

[Tuberculosis and mycobacteriosis in HIV-1 infection]. / La tubercolosi e le micobatteriosi nell'infezione da HIV-1.

Tuberculous and mycobacterial infections and diseases increase now everywhere. Patients HIV-1 infected or with AIDS get more and more a mycobacterial complication. The clinical and radiological features of this event are: the bilateral extension in the lung, the importance of these lesions, the atypical appearance of radiological shadows, the frequency of other concomitant opportunistic pneumopathies of non-mycobacterial origin. Tuberculosis are almost always induced by drug-sensible mycobacteria which usually allows clinical healing or clinical improvement.