CASE REPORT: Severe neonatal presentation of Chronic Granulomatous Disease

Introduction: There are few reports regarding neonatal presentation of CGD. Severe liver compromise in CGD at this age has not been described before. Additionally, Exophiala dermatitidis infection in these patients have only been reported once. Aim: Report a patient with neonatal presentation of X-CGD and severe cholestasis hepatitis; who developed E. dermatitidis pulmonary infection. Case report: 20-day-old male newborn infant, BCG vaccinated, born to non-consanguineous parents, was admitted to the neonatal intensive care unit for jaundice, hepatosplenomegaly and ascites. Initial laboratory findings: high bilirubin (total and direct) and liver enzymes levels; thrombocytopenia and anaemia. Metabolic disorders and TORCH infections were ruled out. Bone marrow biopsy: normal. Abdominal ultrasound demonstrated hepatosplenomegaly with a heterogeneous pattern. Liver biopsy showed granulomas with negative microbial cultures. Dihydrorhodamine test was performed, which showed defective hydrogen peroxide production. At 2 months old (mo), XL-CGD was suspected, and CYBB Sanger sequencing revealed a pathogenic variant (c.766delC). Positive data of the initial evaluation: Total CT scan: consolidation in the upper and low right lung lobe. Despite negative lung biopsy and culture, anti-fungal and anti-tuberculosis treatments were initiated. Search for HSCT donor was started, non-histoidentical related donors were found. At 4 mo he showed persistent fever and respiratory distress. MAS/HLH criteria were met. He received steroids and high-dose immunoglobulin, resulting in clinical remission. At 7 mo, presented with worsening images in chest CT scan, leading to a lung biopsy. Fungal culture: positive for E. dermatitidis. Combination of surgical excision, posaconazole, terbinafine and caspofungin led to the control of the infection. Subsequent lung biopsy cultures: negative. He has recently undergone a haploidentical HSCT.
Discussion: -Although rare, it is important to consider the neonatal onset of CGD. -Cholestasis hepatitis represents an uncommon clinical presentation in CGD.
-For E. dermatitis infection combination of surgical excision with antifungals seems useful as a treatment.

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