Resident University of Puerto Rico Carolina, Puerto Rico
Case Diagnosis: Progressive neurodegenerative disorder, a rare pediatric complication of Bruton's disease, a Primary immune deficiency (PIDs) disorders
Case Description: An 18-year-old male with Bruton's disease chronically treated with IVIGs who presented with 2-year history of progressive speech difficulties, dizziness, poor balance and coordination. Also, had urinary incontinence and dysphagia. Denied head trauma, prior illness, weight loss or illicit drugs. Physical examination remarkable for dysarthria, hand tremor, spastic hemiparesis, UMN signs, cerebellar dysfunction and mild cognitive impairment, executive function.
Hospital workup, including laboratories, EEG and images were normal, ruling out infection, metabolic, toxic, inflammatory and oncologic etiologies, except for Brain MRI, ANA test and CSF, which were remarkable for diffuse cerebral atrophy and prominent sulci, ANA positive (1:80), and elevated CSF protein, respectively.
Discussions: In our case, we detail a young male with Bruton agammaglobulinemia exhibiting symptoms of a progressive encephalopathy uncommonly linked with primary immunodeficiency disorders. Through comprehensive serology, neuropsychological and imaging evaluations, we observed early-stage cognitive impairments, especially in frontal lobe functions, progressing to severe cognitive and physical disabilities. The exact mechanisms, potentially rooted in autoimmunity from unregulated immune responses, remain elusive.
Conclusions: In this case report, we detail a rare pediatric presentation of progressive encephalopathy characterized by persistent severe functional deficits, rooted in a background of x-linked agammaglobulinemia chronically treated with IVIGs. Although CNS complications commonly arise from persistent enteroviral infections, our case reflects the uncommon instances of progressive encephalopathy of unknown etiology seen in x-linked agammaglobulinemia. Patient’s limited functional progress, despite interventions, is largely due to severe motor and cognitive deficits. Recognizing these details, especially given their potential for irreversible neurologic sequelae, underscores underscore the critical need for physicians to ensure timely diagnosis and the vital importance of early pharmacological intervention, rehabilitation and long-term support to either reintegrate patients into society or help them adjust to lasting disabilities.
