Acute Mastoiditis With Intracranial Complications in a Young Adult With History of Cranioplasty: The Rule in the Post-Antibiotic Era.

The presentation of acute mastoiditis has become erratic over the last decades secondary to the wide use of broad-spectrum antibiotics. While establishing this diagnosis requires a high degree of suspicion, imaging is necessary because of the concurrence of intracranial complications. Therefore, the diagnostic hypothesis of acute mastoiditis must prompt the evaluation for the presence of intracranial complications, such as intracranial epidural abscess (ICEA) formation. Hereby, we present a case of a 33-year-old woman presented to the ED of our institution with symptoms consistent with acute mastoiditis. She had a history of a methyl-methacrylate (MMA) cranioplasty performed 10 years before presentation for debulking of an epidermoid cyst. She was found to have the formation of an ICEA. Development of infection in patients with MMA cranioplasty is seen most commonly within one year of the implantation with the late presentation being a rare occurrence. Treatment in these cases is comprised of antibiotic therapy, but most importantly of the removal of the infected foreign material to prevent further complications from the infection.

Reactivation of Epstein-Barr Virus Presenting as Massive Splenomegaly after Initiation of Golimumab Treatment.

Epstein-Barr virus infection is most commonly asymptomatic in the acute setting, where the end result of infection is the adoption of a viral latency phenotype. The virus can reactivate later in life leading to the abnormal proliferation of the infected B, T, or NK cells. Hereby, we report a 71-year-old female with seronegative rheumatoid arthritis who presented with massive splenomegaly, pancytopenia, and positivization of antibodies against double-stranded deoxyribonucleic acid (dsDNA) after initiation of the anti-tumor necrosis factor (TNF) golimumab. The diagnosis of EBV-associated lymphoproliferative disorder (LPD) was demonstrated by elevation of the plasmatic EBV viral load. Withdrawal of the anti-TNF and treatment with the anti-CD20 antibody rituximab were able to revert the clinical abnormalities. EBV-associated LPDs are described after initiation of other anti-TNF agents, such as infliximab, but no reports of golimumab-associated EBV LPD are found in the literature. The mechanisms for this occurrence are not clear, but these are known to involve expression of a panel of viral proteins specific to the viral latency phenotypes.

A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.

The generalized form of UDP-galactose-4'-epimerase (GALE) deficiency causes hypotonia, failure to thrive, cataracts, and liver failure. Individuals with non-generalized forms may remain asymptomatic with uncertain long-term outcomes. We report a 2-year-old child compound heterozygous for GALE p.R51W/p.G237D who never developed symptoms of classic galactosemia but has a history of congenital combined mitral and tricuspid valve malformation and pyloric stenosis, and presented with pancytopenia. Variant pathogenicity was supported by predictive computational tools and decreased GALE activity measured in erythrocytes. GALE function extends to the biosynthesis of glycans by epimerization of UDP-N-acetyl-galactosamine and -glucosamine. Interrogation of the Gene Ontology consortium database revealed several putative proteins involved in normal hematopoiesis and atrioventricular valve morphogenesis, requiring N-glycosylation for adequate functionality. We hypothesize that by limiting substrate supply due to GALE deficiency, alterations in N-linked protein glycosylation can explain the patient's phenotype.