ABSTRACT
<p><b>OBJECTIVE</b>To study clinical features and gene mutations in Shwachman-Diamond syndrome (SDS), a rare autosomal recessive disease, in children.</p><p><b>METHOD</b>Clinical manifestations, laboratory examinations, image studies, and genetic testing of two cases with SDS were presented, analyzed, and discussed; 311 SDS cases from the related literature since 2004 were reviewed.</p><p><b>RESULT</b>(1) The two cases both presented with characteristic exocrine pancreatic insufficiency evidenced by abnormal pancreas on imaging and growth retardation, persistent or intermittent neutropenia (<1500×10(6)/L) and/or anemia, and skeletal abnormalities. Analysis of the SBDS gene revealed the same compound heterozygous genotype (c.183_184TA > CT, c.258+2T > C) for both subjects. This genotype is the result of the inheritance of abnormal alleles from both healthy parents. (2) Among 311 cases, 75 cases having complete clinical data were characterized by exocrine pancreatic dysfunction (61/75; 81.3%), hematologic abnormalities with single- or multi-lineage cytopenia (64/75; 85.3%), and bone abnormalities (47/75; 62.7%). c.183_184TA > CT, c.258+2T > C, and c. [ 183_184TA > CT; 258+2T > C] are the major types of SBDS gene mutation(85/138;61.6%).</p><p><b>CONCLUSION</b>SDS is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multi-lineage cytopenia, and bone abnormalities. The diagnosis of SDS relies on a combination of clinical features and gene-based tests. The SDS patients need long term follow-up and management.</p>
Subject(s)
Child , Humans , Infant , Male , Bone Marrow Diseases , Diagnosis , Genetics , DNA Mutational Analysis , Exocrine Pancreatic Insufficiency , Diagnosis , Genetics , Exons , Genes, Recessive , Heterozygote , Lipomatosis , Diagnosis , Genetics , Mutation , Neutropenia , Proteins , GeneticsABSTRACT
Objective To explore the related diseases,main causes and clinical features of children with basal ganglia calcification(BGC).Methods Thirty cases with BGC detected by CT were studied retorspectively,and its clinical symptoms and image were summarized.Results Many factors and diseases were related to BGC,such as hypothyroidism,intrauterine infection,intrauterine hypoxia,epilepsy,posttraumatic cerebral lacunar infarction.Main clinical manifestations of BGC in children were twich,mental retardation,disorders of limb movements etc.The CT scan showed localized punctuate calcification in basal ganglia.Conclusions The main causes of BGC in children are hypothyroidism,intrauterine infection and intrauterine hypoxia,and the clinical manifestations are diverse.For children with CT-detected BGC should diagnose its causes;and for unknown causes cases should strengthen follow-up.