Legg-Calvé-Perthes Disease Following Nephrotic Syndrome With Long-Term Steroid Use in a Three-Year-Old Boy: A Case Report.

Nephrotic syndrome (NS) is one of the common pediatric diseases that require glucocorticoid treatment. Patients with NS might receive steroids for a long time if remission is not achieved. Evidence shows that long-term steroid use may induce osteoporosis in adults and children, and steroid use is well known to be related to avascular necrosis of the femoral head (ANFH) in adults. However, no pediatric case of AFNH caused by long-term steroid use due to NS has been reported. In this report, we describe the case of a three-year-old boy with a chief complaint of gait difficulty, who had been treated with glucocorticoid orally for a year because of NS. His body temperature was within the normal limit. His legs did not show trauma, redness, or swelling; however, he did not want his left thigh touched. A pelvic X-ray scan showed asymmetrical femoral heads due to the thinning of the left femoral head. Pelvic magnetic resonance imaging showed a low intensity of the left femoral head on the T2-weighted image and high and low mixed intensities on the fat-suppressed T2-weighted image. Deformation of the left femoral head was suspected. The epiphysial nucleus of the right femoral head was also small for his age. He was diagnosed with Legg-Calvé-Perthes disease and referred to an orthopedic clinic to begin rehabilitation with equipment to support his joints. Thus, we cannot completely conclude that glucocorticoid use and NS are not related to AFNH in children. Physicians must consider early diagnosis.

Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals characteristic elevation of type II interferon signature and STAT1 hyperactivation.

BACKGROUND: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive inflammatory disease caused by loss-of-function mutations in both alleles of the ADA2 gene. Most patients with DADA2 exhibit systemic vasculopathy consistent with polyarteritis nodosa, but large phenotypic variability has been reported, and the pathogenesis of DADA2 remains unclear. OBJECTIVES: This study sought to assess the clinical and genetic characteristics of Japanese patients with DADA2 and to gain insight into the pathogenesis of DADA2 by multi-omics analysis. METHODS: Clinical and genetic data were collected from 8 Japanese patients with DADA2 diagnosed between 2016 and 2019. ADA2 variants in this cohort were functionally analyzed by in vitro overexpression analysis. PBMCs from 4 patients with DADA2 were subjected to transcriptome and proteome analyses. Patient samples were collected before and after introduction of anti- TNF-α therapies. Transcriptome data were compared with those of normal controls and patients with other autoinflammatory diseases. RESULTS: Five novel ADA2 variants were identified in these 8 patients and were confirmed pathogenic by in vitro analysis. Anti-TNF-α therapy controlled inflammation in all 8 patients. Transcriptome and proteome analyses showed that upregulation of type II interferon signaling was characteristic of DADA2. Network analysis identified STAT1 as a key regulator and a hub molecule in DADA2 pathogenesis, a finding supported by the hyperactivation of STAT1 in patients' monocytes and B cells after IFN-γ stimulation. CONCLUSIONS: Type II interferon signaling and STAT1 are associated with the pathogenesis of DADA2.

[A Pediatric Case of Clinically Mild Encephalitis/Encephalopathy with a Reversible Splenial Lesion(MERS)with Recurrent TIA-like Symptoms over a Prolonged Period].

We report a rare case of pediatric clinically mild encephalitis/encephalopathy with a reversible splenial lesion(MERS)associated with transient ischemic attack(TIA)-like symptoms. A 13-year-old boy who presented with transient left hemiparesis and dysarthria was transferred to our hospital. He had experienced similar symptoms at the age of nine years and was diagnosed with MERS type 2 due to the typical clinical course and MR imaging findings. His elder brother showed a similar clinical history at the age of eight years. DW-MR images on admission revealed high signal intensity areas in the splenium of the corpus callosum and deep white matter. The territories were depicted as low intensity on apparent diffusion coefficient maps and slightly high intensity on T2-weighted images. Recurrence of MERS type 2 was considered because the symptoms of the patient disappeared within several hours and the abnormal signal intensities markedly decreased on the follow-up DWI performed eight days after initial MR imaging. The abnormal MR imaging findings completely disappeared after five weeks. After discharge, the patient experienced eight TIA-like episodes with a similar clinical course and MR imaging findings over a period of six years. MERS associated with TIA-like episodes is extremely rare, especially MERS associated with recurrent episodes in multiple phases over a long period, as seen in the present case. In addition, the findings in the last two MR imaging scans involving the internal capsule, thalamus, and midbrain were highly unusual and maybe considered to be indicative of an advanced form of MERS type 2, as reported in other familial cases.