Search

Mucolipidosis type‐II (ML‐II) is an ultra‐rare disorder caused by deficiency of N‐acetylglucosaminyl‐1‐phosphotransferase enzyme due to biallelic pathogenic variants in GNPTAB gene. There are a few known about the natural history of ML‐II. In this study, we presented the natural course of 24 patients diagnosed with ML‐II. Mean age at diagnosis was 9.3 ± 5.7 months. All patients had coarse face, developmental delay, and hypotonia. The mean survival time was 3.01 ± 1.4 years. The oldest patient was 6.5 years old. Twelve patients died due to lung infection and respiratory failure. We observed early and significant radiological findings of ML‐II were different from typical dysostosis multiplex such as femoral cloaking, rickets‐like changes, and talocalcaneal stippling. These are significant findings observed in the fetal or newborn period which is considered to be highly characteristic of ML‐II and disappears in the first year. Cloaking, rickets‐like changes, and stippling were not observed in patients older than three months of age and this suggests that these findings disappear within the first year. These radiological features can be used as important clues for diagnosis. We detected eight different pathogenic variants in GNPTAB gene, three of them were novel. [ABSTRACT FROM AUTHOR]

Cerebral Creatine Deficiency Syndromes (CCDS) are congenital metabolic disorders in the creatine metabolism pathway. In this study, we evaluated the clinical, phenotypic, radiological and genetic features of patients with CCDS. We tried to identify early diagnosis clues in patients. Especially, we reviewed the causes of delay in patients with late diagnosis. In line with these findings, the diagnosis is confirmed by enzyme tests and next generation sequencing based whole genome sequencing. In this study, 6 patients whose diagnosis was genetically confirmed were presented (5 GAMT mutations (someone is complete homozygous deletion in GAMT gene), 1 SLC6A8 mutation). 5 of these patients were from the same family, and 4 patients were patients with a late diagnosis. Two of the 4 patients who were diagnosed late were moderate and two had severe phenotype. The neurological findings consisted of patients with different clinical findings such as speech disorder, cognitive retardation, autism and epilepsy. Patients received appropriate treatment for the type of cerebral creatine deficiency. While response to treatment was good in early diagnosed cases, a partial clinical improvement was detected in cases diagnosed late. The patient, who was started treatment before neurological symptoms appeared, was neurodevelopmentally normal. It was observed that there was a strong relationship between age at diagnosis and phenotype and prognosis. We compared the clinical findings, phenotype and genotype characteristics of patients with CCDS. We reviewed the causes of delay in patients with late diagnosis. Thus, we wanted to raise awareness about early diagnosis and treatment of CCDS, one of the rare metabolic diseases. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study is to evaluate the diagnosis characteristics, clinic findings, phenotypical and genotypical features of children with GM2 gangliosidoses. Materials and Methods: The file records of 14 patients diagnosed with GM2 gangliosidoses in our clinic were retrospectively reviewed. The GM2 gangliosidoses diagnosis was confirmed by determining the levels of serum total hexosaminidase and β-hexosaminidase activity with genetic analysis. Results: We identified a total of seven different mutations, three of which were novel (one in the HEXA gene and two in the HEXB gene) in 14 patients. We found a high frequency of c.1100_1111del (p.Gly367_Tyr370del) mutation in HEXA affected patients. The mean age at diagnosis was 13.4±6.3 months and 14.2±4.2 months for patients with Tay–Sachs disease (TSD) and Sandhoff disease (SD) respectively. Neuroregression was present in 92.9% of our patients. Of the 14 patients, 11 had epilepsy, 10 had developmental delay, 6 had hyperacusis, 6 had cherry-red spots and 6 had macrocephaly, but none of the patients had organomegaly. Conclusion: GM2 gangliosidoses disease should be considered for children with developmental regression and/or delay. For early diagnosis, enzyme analysis and gene detection should be performed in children with suspected GM2 gangliosidoses in the presence of clinical findings. [ABSTRACT FROM AUTHOR]

Copyright of Mersin Üniversitesi sağlık Bilimleri Dergisi is the property of Mersin University and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi is the property of Turkish Journal of Pediatric Disease and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)