A male full-term neonate was admitted at 30 minutes of life with pallor and 10 minutes of respiratory distress. Physical examination revealed pallor, increased intercanthal distance, low-set ears, a palpable cystic mass in the neck, hepatomegaly, a pedunculated, globular appendage attached to the right thumb, and an ectopic toenail on the right second toe. Laboratory testing showed severe anemia with hemoglobin of 44 g/L. Bone marrow examination demonstrated hypoplasia. Whole-exome sequencing identified a heterozygous pathogenic variant in the RPS19 gene, c.175T>C (p.Ser59Pro), establishing the diagnosis of Diamond-Blackfan anemia. On follow-up to 2 years and 2 months of age, both hemoglobin and reticulocyte counts remained within normal ranges. This case illustrates early-onset severe anemia in a neonate with genetically confirmed Diamond-Blackfan anemia and expands the phenotypic spectrum, informing clinical recognition and management.
Humans ; Anemia, Diamond-Blackfan/diagnosis* ; Male ; Infant, Newborn ; Ribosomal Proteins/genetics*

INTRODUCTION

Pure red cell aplasia (PRCA) is defined as anemia in the presence of severe reticulocytopenia and absent or markedly decreased erythroid precursors in the marrow. When associated with another disease entity, it is classified as secondary acquired PRCA. A rare entity, thymolipoma, which constitutes 2% to 9% of thymic tumors has been associated with PRCA in some studies. The prevalence of thymolipoma among patients with myasthenia gravis reaches 43.8%. This paper presents the rare presentation of myasthenia gravis associated with thymolipoma and PRCA.

We present the case of a 64-year-old female who was diagnosed with myasthenia gravis and has been on maintenance pyridostigmine (Mestinon) for 12 years. She presented with symptoms of anemia and became transfusion requiring. Routine chest CT showed a thymic mass which was confirmed to be a thymolipoma during biopsy. Bone marrow studies confirmed the absence of erythroids, hence the diagnosis of secondary acquired PRCA.

There have been case reports associating PRCA with thymolipomas. Thymolipomas, which constitute 2% to 9% of thymic tumors are found among patients with myasthenia gravis, but the majority remains asymptomatic despite increasing tumor size. PRCA with associated thymic mass shows improvement of symptoms with tumor removal and immunosuppression. Oral corticosteroids result in a response rate of 39% while cyclosporine results in 77% response. This can be tapered off once response has been achieved.

This case report emphasizes the importance of early bone marrow studies among patients with myasthenia gravis presenting with sudden onset anemia.

OBJECTIVE: To evaluate the efficacy, safety and relapse of cyclosporine A (CsA) and CsA combined with corticosteroid (CS) as the frontline therapy for patients with newly diagnosed acquired pure red cell aplasia (aPRCA). METHODS: The clinical features, treatment responses, relapses and clinical outcomes of patients with newly diagnosed aPRCA in Peking Union Medical College Hospital (PUMCH) from January 2015 to May 2020 were analyzed retrospectively. All the enrolled patients had been treated with either CsA or CsA+CS for at least 6 months and had been followed up for at least 12 months, with complete clinical data and consent forms. RESULTS: 96 patients including 72 treated with CsA and 24 treated with CsA+CS were enrolled. With comparable baseline characteristics and follow-up periods, patients treated with CsA or with CsA+CS had similar overall response rates (ORRs) and complete response rates (CRRs) at the 3rd, 6th and 12th month and at the end of follow-up (P>0.05). Meanwhile, no significant difference was found between the two groups in the optimal ORR, optimal CRR, time to response or time to complete response. CsA+CS and CsA groups had similar adverse event (AE) rates, but CsA+CS group had higher CS-related infection rate (P <0.05). One patient in CsA+CS group died of multiple infections. As for the relapse, the two groups had compatible relapse rates at different time points, time to relapse, overall relapse rate and relapse-free survival (P>0.05). CsA exposure time, rather than different therapy regimens, was the only influence factor for either ORR or relapse rate (P <0.05). CONCLUSION CsA monotherapy has similar efficacy, AE rate and relapse rate as compared with CsA+CS for patients with newly diagnosed aPRCA, and shows less CS-related AEs such as infection.
Humans ; Cyclosporine/therapeutic use* ; Retrospective Studies ; Red-Cell Aplasia, Pure/drug therapy* ; Adrenal Cortex Hormones/therapeutic use* ; Remission Induction ; Treatment Outcome ; Immunosuppressive Agents/therapeutic use*

Humans ; Anemia, Aplastic/genetics* ; Red-Cell Aplasia, Pure ; Chromosome Disorders

OBJECTIVES: To investigate the distribution of body mass index (BMI) and risk factors for obesity in children with Diamond-Blackfan Anemia (DBA). METHODS: The children with DBA who attended National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, from January 2003 to December 2020 were enrolled as subjects. The related clinical data and treatment regimens were recorded. The height and weight data measured within 1 week before or after follow-up time points were collected to calculate BMI. The risk factors for obesity were determined by multivariate regression analysis in children with DBA. RESULTS: A total of 129 children with DBA were enrolled, among whom there were 80 boys (62.0%) and 49 girls (38.0%), with a median age of 49 months (range 3-189 months). The prevalence rate of obesity was 14.7% (19/129). The multivariate logistic regression analysis showed that the absence of ribosomal protein gene mutation was closely associated with obesity in children with DBA (adjusted OR=3.63, 95%CI: 1.16-11.38, adjusted P=0.027). In children with glucocorticoid-dependent DBA, obesity was not associated with age of initiation of glucocorticoid therapy, duration of glucocorticoid therapy, and maintenance dose of glucocorticoids (P>0.05). CONCLUSIONS There is a high prevalence rate of obesity in children with DBA, and the absence of ribosomal protein gene mutation is closely associated with obesity in children with DBA.
Child ; Male ; Female ; Humans ; Anemia, Diamond-Blackfan/genetics* ; Pediatric Obesity/complications* ; Glucocorticoids/therapeutic use* ; Prevalence ; Risk Factors ; Ribosomal Proteins/genetics* ; Mutation

Congenital pure red cell aplasia, also known as Diamond-Blackfan anemia (DBA), is a hereditary disease characterized by pure red cell aplasia and congenital malformation. Its main clinical features are anemia, dysplasia, and tumor susceptibility. Ribosomal protein (RP) gene mutation is the main pathogenesis of DBA. The most common type of gene mutation is RPS19 gene mutation. Heterozygous mutations in as many as 19 RP genes and other non-RP genes mutations have been identified in DBA. This review summarized briedfly the latest research advances in the pathogenesis of DBA.
Anemia, Diamond-Blackfan ; Humans ; Mutation ; Ribosomes

Consensus ; Humans ; Red-Cell Aplasia, Pure

Humans ; Red-Cell Aplasia, Pure

OBJECTIVE: To study the clinical features, treatment, and prognosis of pure red cell aplasia (PRCA) in children. METHODS: A retrospective analysis was performed for the clinical data of 16 children with PRCA. The outcome and prognosis of patients treated with prednisone combined with Huaiqihuang granules versus prednisone alone were evaluated. RESULTS: All the 16 children complained of symptoms of anemia including pale or sallow complexion. Of 12 children undergoing pathogen test, 7 (58%) were found to have pathogen infection, among which human cytomegalovirus was the most common. Lymphocyte subsets were measured for 7 children, among whom 5 (71%) had lymphocyte immune disorder. Six children were found to have abnormalities in immunoglobulin and complement. The 8 children treated with prednisone combined with Huaiqihuang granules had a median follow-up time of 21.5 months, among whom 1 was almost cured, 1 was relieved, and 6 were obviously improved; the median onset time of treatment was 1 month, and 2 children had disease recurrence in the course of drug reduction or withdrawal. The 8 children in the prednisone alone treatment group had a median follow-up time of 34 months, among whom 4 were almost cured, and 4 were obviously improved; the median onset time of treatment was 2.5 months, and 4 children had recurrence during drug reduction or withdrawal. CONCLUSIONS Children with PRCA usually complain of anemia-related symptoms. Laboratory tests show pathogen infection in some children with PRCA, and most of children have immune disorders. Glucocorticoids have a good therapeutic effect, but some children relapse in the course of drug reduction or withdrawal. Combined treatment with prednisone and Huaiqihuang granules may have a faster onset of action and less possibility of recurrence.
Child ; Glucocorticoids ; Humans ; Prednisone ; Recurrence ; Red-Cell Aplasia, Pure ; Retrospective Studies

No abstract available.
Myelodysplastic Syndromes* ; Red-Cell Aplasia, Pure*