Association between the Clinical, Laboratory and Ultrasound Characteristics and the Etiology of Peripheral Lymphadenopathy in Children.

Peripheral lymphadenopathy affects most children at least once in a lifetime and represents a major reason for concern. Therefore, we aimed to identify the most common causes of peripheral lymphadenopathy in hospitalized children and to determine the clinical, laboratory and ultrasound characteristics that enable fast, easy and accurate etiological diagnosis. We performed a cross-sectional study including 139 children who were hospitalized because of peripheral lymphadenopathy. Ultrasound of lymph nodes was performed in 113 (81.3%) patients. Lymphadenopathy was generalized in nine (6.5%) patients. Malignant etiology was established in only three (2.2%) patients. Bacterial lymphadenitis, infectious mononucleosis (IM) and cat scratch disease (CSD) were diagnosed in 66 (47.5%), 31 (22.3%) and 29 (20.9%) patients, respectively. Bacterial lymphadenitis was significantly associated with neutrophilia (p < 0.01), and increased C-reactive protein levels (p < 0.01). IM was associated with pharyngitis (p < 0.01), leukocytosis without neutrophilia (p = 0.03) and increased blood liver enzyme levels (p < 0.01). CSD was associated with recent contact with a cat (p < 0.01), absence of a fever (p < 0.01) and normal white blood cell count (p < 0.01). Thorough history and clinical examination in combination with a few basic laboratory tests enable fast and accurate differentiation between the most common etiologies of lymphadenopathy in children to avoid unnecessary procedures and hospitalizations.

Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) - Case series.

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, X-linked recessive multisystem lysosomal storage disease due to iduronate-2-sulfatase enzyme deficiency. We presented three unrelated Slovenian patients with the severe form of MPS II that received three different management approaches: natural course of the disease without received specific treatment, enzyme replacement therapy (ERT), and hematopoietic stem cell transplantation (HSCT). The decision on the management depended on disease severity, degree of cognitive impairment, and parent's informed decision. The current benefits of MPS II treatments are limited. The lifelong costly intravenous ERT brings significant benefits but the patients with severe phenotypes and neurological involvement progress to cognitive decline and disability regardless of ERT, as demonstrated in published reviews and our case series. The patient after HSCT was the only one of the three cases reported to show a slowly progressing cognitive development. The type of information from the case series is insufficient for generalized conclusions, but with advanced myeloablative conditioning, HSCT may be a preferred treatment option in early diagnosed MPS II patients with the severe form of the disease and low disease burden at the time of presentation.