FUNGAL NEUROLOGICAL SEQUELAE IN A HYPER IMMUNOGLOBULIN E SYNDROME FROM PESHAWAR, PAKISTAN: AN UNUSUAL PRESENTATION

Abstract

Hyper IGE syndrome is one of the primary immunodeficiency syndromes characterized by the presence of abnormally raised serum IGE levels (2000 IU/ml) with defective humoral and cell mediated immunity presenting in infancy or early childhood. It is a rare disease with only about 200 cases reported in literature. Usually, it is diagnosed clinically and by raised serum IGE levels. Mostly, it presents with recurrent staphylococcal skin abscesses, sinopulmonary infections, and opportunistic mycotic infections due to the immunodeficient state. Rarely, the central nervous system is involved by this condition. This case study deals with an 11-year-old girl who was diagnosed as a case of hyper IGE syndrome. She presented with low GCS and focal neurological deficits which were attributed to aspergillus fumigatus infection spreading to the brain resulting in multiple abscesses and eventually to death of the patient despite treatment interventions. This case emphasizes the likelihood of dissemination of fungal infections to multiple organs including the brain and the potential role of early neuroimaging to detect such lesions. Moreover, it shows significance of serial imaging in admitted patients particularly with the onset of new and unusual neurological symptoms. With more extensive studies, we may be able to diagnose and treat such infections and their complications on time with better outcomes.

Keywords

• hyper immunoglobulin e syndrome
• neuroaspergillosis
• voriconazole
• brain abscess
• pneumonia.