Oh rats! Intracellular rod‐like inclusions in an adolescent with Shwachman–Diamond syndrome

Mayhew, Jonathan; Luttrell, Harrison; Barros, Kathryn; Blazin, Lindsay; Nichols, Cydney; Avashia‐Khemka, Nidhi; Lavik, John‐Paul; Relich, Ryan F.; Skinner, Deryll; Zhou, Jiehao; Saraf, Amanda; Khaitan, Alka

doi:10.1002/pbc.30918

Cited by 1 publication

(1 citation statement)

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“…Rat-bite fever, an important bacterial zoonosis primarily caused by Streptobacillus moniliformis, was reported in a female adolescent SDS patient requiring mechanical ventilation for 6 days and hemodialysis for 6 weeks while also presenting with purpuric lesions, sepsis and extended necrotic areas on the arm and forearm. Altered immune regulation from increased mTOR activity in SDS was proposed to contribute to the severe presentation of the patient [ 20 ]. Endocrine disorders in SDS include insulin-dependent diabetes, hypogonadotropic hypogonadism, hypothyroidism and growth hormone deficiency (reviewed in [ 21 ]).…”

Section: Introductionmentioning

confidence: 99%

Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature

Veltra,

Marinakis,

Kotsios

et al. 2024

Children

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Shwachman Diamond Syndrome (SDS) is a multi-system disease characterized by exocrine pancreatic insufficiency with malabsorption, infantile neutropenia and aplastic anemia. Life-threatening complications include progression to acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS), critical deep-tissue infections and asphyxiating thoracic dystrophy. In most patients, SDS results from biallelic pathogenic variants in the SBDS gene, different combinations of which contribute to heterogenous clinical presentations. Null variants are not well tolerated, supporting the theory that the loss of SBDS expression is likely lethal in both mice and humans. A novel complex genotype (SBDS:c.[242C>G;258+2T>C];[460-1G>A]/WFS1:c.[2327A>T];[1371G>T]) was detected in a family with recurrent neonatal deaths. A female neonate died three hours after birth with hemolytic anemia, and a male neonate with severe anemia, thrombocytopenia and neutropenia succumbed on day 40 after Staphylococcus epidermidis infection. A subsequent review of the literature focused on fatal complications, complex SBDS genotypes and/or unusual clinical presentations and disclosed rare cases, of which some had unexpected combinations of genetic and clinical findings. The impact of pathogenic variants and associated phenotypes is discussed in the context of data sharing towards expanding scientific expert networks, consolidating knowledge and advancing an understanding of novel underlying genotypes and complex phenotypes, facilitating informed clinical decisions and disease management.

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Section: Introductionmentioning

confidence: 99%