Prenatal diagnosis of Di George syndrome of the fetus with tetralogy of Fallot

Prenatal diagnosis of deletion 22q11.2 of the fetus in the second trimester of pregnancy, suspected on the basis of congenital heart disease (tetralogy of Fallot) in the combination with thymus hypoplasia, is presented. The pregnancy was interrupted.

Di George syndrome: Catch 22 (A case report)

The deletion of chromosome 22q11.2 is described as Velocardiofacial Syndrome orDi George Syndrome. CATCH 22 stands for cardiac defect, abnormal faces, thymichypoplasia, cleft palate, hypocalcaemia.Other defects seen are velopharyngeal insufficiency with or without cleft palate,immune problems, feeding difficulties, hypocalcaemia, learning disabilities,behavioral abnormalities and lastly characteristic facial features.A high prevalence ofdental caries, abnormalities of tooth shape, eruption and number, and enamel defectssuch as hypomineralisation and hypoplasia are also seen in these patients.A case of 7year old child with Veligocardiofacial syndrome is discussed in thisarticle. Facial dysmorphism and common dental manifestations is typically noticeablein patients with this syndrome. Enamel aberrations related to hypocalcemia mayresult in a higher frequency of dental caries. The dentists need to be aware of thedental features of this condition in order to refer them to the adequate specialists.

Endokrin szövődmények primer immundeficientiában

Experimental and clinical data suggest a complex interaction between the endocrine and immune systems. However, only few epidemiological studies are available dealing with endocrine complications in different types of primary immunodeficiency diseases. It is well documented that there is a close association between immunodeficiency syndromes and the development of autoimmune disorders. Most of the endocrine dysfunctions are caused mainly by immune dysregulation and autoimmunity like in APECED (autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy) and IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndromes. In these disorders, an immunologically mediated destructive process by autoreactive T cells damages multiple endocrine organs like the thyroid, parathyroid, adrenal cortex and endocrine pancreas. In some other forms of immunodeficiencies, like Di George syndrome, endocrine disturbances are mainly caused by the underlying genetic disorders but autoimmunity may also take part in the process. The aim of this paper is to give an overview of the different forms of endocrine disturbances and their pathological background in APECED and IPEX syndromes, Di George syndrome and ataxia telangiectasia. Orv Hetil. 2018; 159(49): 2065–2072.

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease

Deletion at 22q11.2 responsible for Di George syndrome (DGs) is a risk factor for early-onset Parkinson’s disease (EOPD). To date, all patients reported with 22q11.2 deletions and parkinsonian features are negative for a family history of PD, and possible mutations in PD-related genes were not properly evaluated. The goal of this paper was to identify variants in PD genes that could contribute, together with 22q11.2 del, to the onset of parkinsonian features in patients affected by Di George syndrome. To this aim, sequencing analysis of 4800 genes including 17 PD-related genes was performed in a patient affected by DGs and EOPD. The analysis identified mutation p.Gly399Ser in OMI/HTRA2 (PARK13). To date, the mechanism that links DGs with parkinsonian features is poorly understood. The identification of a mutation in a PARK gene suggests that variants in PD-related genes, or in genes still not associated with PD, could contribute, together with deletion at 22q11.2, to the EOPD in patients affected by DGs. Further genetic analyses in a large number of patients are strongly required to understand this mechanism and to establish the pathogenetic role of p.Gly399Ser in OMI/HTRA2.