Pseudotumor cerebri in a child with hyperimmunoglobulin E syndrome

Area of Science:

• Neurology
• Immunology
• Genetics

Background:

• Hyperimmunoglobulin E syndrome (HIES) is a rare, multisystemic immune disorder characterized by recurrent infections, eczema, and elevated serum IgE levels.
• Central nervous system (CNS) abnormalities are recognized, though not fully characterized, features of HIES.
• Pseudotumor cerebri (PTC), or idiopathic intracranial hypertension, involves elevated intracranial pressure without a mass lesion or hydrocephalus.

Observation:

• This report describes an unusual case of PTC in a pediatric patient diagnosed with HIES.
• The patient presented with symptoms suggestive of increased intracranial pressure.
• Notably, the presentation of PTC in this child lacked the typical sign of papilledema.

Findings:

• The case highlights an atypical manifestation of CNS involvement in HIES.
• It expands the spectrum of neurological complications associated with HIES.
• The occurrence of PTC without papilledema in a child with HIES is a rare clinical observation.

Implications:

• This case underscores the importance of considering neurological complications, including atypical presentations of PTC, in children with HIES.
• Further research is warranted to elucidate the specific mechanisms linking HIES and CNS abnormalities like PTC.
• Recognizing these associations can aid in earlier diagnosis and management of HIES patients with neurological symptoms.