No abstract

We present a one-month-old male brought in with diffuse large skin abscesses, failure to thrive, and hepatic failure. His status depreciated rapidly, requiring intensive care unit admission as a result of septic shock and multiple incision and drainage surgeries for skin abscesses. Wound site cultures yielded <i>Staphylococcus aureus</i> and urine culture positive for <i>Candida albicans</i>; however, extensive further investigations for causative infectious versus immune-related etiologies remained unfruitful. Despite broad-spectrum antibiotic, antifungal, and antituberculosis coverage, the child’s condition deteriorated further. Within a month of admission, parents were informed of an abnormal neonatal screening report from the hospital where he was born, as presumptively positive for galactosemia. Feeds were immediately shifted to non-lactose formulation, and diagnosis was then confirmed via genetic testing. Jaundice, coagulopathy, inflammatory markers, and weight gain all steadily improved thereafter, and the child was repatriated for continuity of care. Our case demonstrates a unique disease manifestation of a well-known, often forgotten disorder and reemphasizes the importance of rapid institution of lactose-free formula milk.

We present the case of a thirteen-year-old, morbidly obese boy admitted with right hip septic arthritis and severe sepsis. Blood and joint aspirate cultures confirmed growth of methicillin-resistant <i>Staphylococcus aureus</i>. Parenteral antibiotic therapy was administered according to culture sensitivity reports, and several joint re-explorations were required for drainage of pus recollection at the hip site. Over a month-long inpatient stay culminated in an episode of profuse fresh bleeding from the right hip wound site, with subsequent CT angiography confirming mycotic aneurysm development at the deep branch of the femoral artery. Emergent endovascular embolization and coil insertion ensued, allowing steady improvement till discharge home.

A 3-month-old female was referred to our facility for evaluation of recurrent severe infections. Her medical history was rich with frequent hospital admissions for intravenous antibiotic courses, blood transfusions on two separate occasions, and a recent growth of <i>Pseudomonas aeruginosa</i> on bronchoalveolar lavage culture. During inpatient stay, culture-sensitive antibiotics, broad-spectrum antifungals, and blood products were administered. Her blood, urine, and spinal fluid cultures, as well as serum/respiratory viral screening panels, yielded nil. In view of persistent high-grade fever, raised inflammatory markers, and recurrent infections, whole-exome sequencing was performed with the suspicion of an underlying immunodeficiency syndrome and/or primary hemophagocytic lymphohistiocytosis (HLH). A homozygous pathogenic variant <i>c.229C&#x3e;T(p.R77X)</i> in the <i>NCF-2 (neutrophil cytosolic factor 2)</i> gene was detected, with no concurrent primary HLH mutations. Thus, a diagnosis of chronic granulomatous disease with secondary HLH was confirmed. Aggressive continuation of antimicrobial therapy soon led to defervescence, recession of inflammatory markers, and improvement in general wellbeing. Notably, the institution of definitive HLH treatment protocol was not required as the triggering element was targeted. The patient was then repatriated on prophylactic antibiotics with strong recommendation for bone marrow transplantation.