ABSTRACT
This study examines a four-year-and-one-month-old male with no significant past medical, family, or surgical history who initially presented to the pediatric clinic with cough, rhinorrhea, conjunctivitis, emesis, leg and arm pain, and increased difficulty ambulating. The patient was transferred to the emergency department and tested positive for a non-COVID-19 coronavirus infection. The patient was stabilized, given intravenous fluids, and discharged only to return to the clinic the next day with the onset of a headache, right eye ptosis, an inability to bear weight, and bilateral upper and lower extremity weakness resulting in an ataxic gait. In addition to the neurological deficits, the patient was found to have an elevated blood pressure and pulse. The patient was promptly transferred to a tertiary care clinic. Through exclusion of various differentials via testing, the patient was diagnosed and managed for atypical Guillain-Barré syndrome. Targeted therapies were initiated to prevent dysautonomia-associated morbidity. Following management, the patient's condition vastly improved and he was admitted to rehabilitation bringing him back to optimal health. This study underlines the importance of prompt identification of atypical presentations of Guillain-Barré syndrome which may aid in avoiding preventable morbidity and mortality.
ABSTRACT
Forkheadbox N1 (FOXN1) gene mutation in humans is a rare cause of thymic hypoplasia and T cell immunodeficiency. This gene is the master transcriptional regulator of thymic epithelial cells and disruptions have been described in consequence to a variety of antepartum complications. FOXN1 mutation-mediated immune deficiency is typically associated with severe combined immunodeficiency and alopecia universalis (SCID/NUDE phenotypes) with homozygous alterations in human animal models. Less common, however, FOXN1 alterations can occur in a heterozygous form and provide a distinct phenotype of severe combined immunodeficiency (SCID) without alopecia. Here, we present one such case of a Caucasian child born with heterozygous FOXN1 mutation, first presenting with undetectable T cell levels at newborn screen. He was confirmed to have FOXN1 immunodeficiency in the heterozygous form through genetic testing. Early identification and initiation of appropriate interventions are crucial to reduce mortality from opportunistic pathogens associated with immunodeficiency. Furthermore, we need to appreciate the less common presentations of established diseases among young patients.
