Clinical features analysis of non-classic infantile glycogen storage disease type Ⅱ / 中华实用儿科临床杂志

Objective To summarize the clinical features of non-classic infantile glycogen storage disease type Ⅱ for early diagnosis.Methods The clinical data including the clinical manifestations and investigation of the 3 nonclassic infantile glycogen storage disease type Ⅱ were retrospectively reviewed from Jun.to Jul.2011.All the 3 cases were diagnosed by measuring acid α-glucosidase (GAA) activity in blood sample.Results All the 3 patients presented development delay,limb muscle weakness without hepatomegaly.Two cases of them presented weakness of respiratory muscle.The serum creatine kinase,aspartate aminotransferase and alanine aminotransferase were high in all the 3 patients.Electromyography studies indicated that one of the patients with susceptible myopathy,one patient with neurogenic damage and one patient with mixed damage of the neuromascular.Echographic evidence of hypertrophic cardiomyopathy was detected in 2 patients.GAA activity of the 3 patients in blood sample had diagnostic value.Conclusions Nonclassic infantile glycogen storage disease type Ⅱ is easy to be missed due to its non-significant clinical manifestations.The results suggested that GAA activity in blood sample should be screened for the patients with motor development delay,decreased muscle weakness/exercise tolerance and increased of serum creatine kinase.

Diagnosis of Fanconi anemia in children with atypical clinical features: a primary study / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Fanconi anemia is a severe congenital disorder associated with mutations in a cluster of genes responsible for DNA repair. Arriving at an accurate and timely diagnosis can be difficult in cases of Fanconi anemia with atypical clinical features. It is very important to increase the rate of accurate diagnosis for such cases in a clinical setting. The purpose of this study is to explore the clinical diagnosis of Fanconi anemia in children with atypical clinical features.</p><p><b>METHODS</b>Six cases of Fanconi anemia with atypical clinical features were enrolled in the study, and their clinical features were recorded, their FANCA gene transcription was assessed by RT-PCR, and FANCA mutations and the ubiquitination of FANCD2 protein were analyzed using DNA sequencing and western blotting respectively.</p><p><b>RESULTS</b>All six cases showed atypical clinical features including no apparent deformities, lack of response to immune therapy, and progressively increasing bone marrow failure. They also have significantly increased fetal hemoglobin, negative mitomycin-induced fracture test results, and carry a FANCA gene missense mutation. Single protein ubiquitination of FANCD2 was not observed in those patients.</p><p><b>CONCLUSION</b>The combination of clinical features, FANCA pathogenic gene mutation genotype and the absence of FANCD2 protein ubiquitination are helpful in the accurate and timely diagnosis of Fanconi anemia in children.</p>