Sotos syndrome is a rare genetic disorder with autosomal dominant inheritance, marked by overgrowth with macrocephaly, a distinctive facial appearance, and intellectual impairment. It occurs due to pathogenic variants encompassing the NSD1 gene. In addition, Sotos-like syndromes are also recognized, including Malan syndrome, known as Sotos syndrome type 2, which is caused by variants encompassing the NFIX gene.
Herein we present a series of 3 pediatric patients diagnosed with Sotos syndrome type 1 and 1 patient with Sotos syndrome type 2 and discuss their genotypes and phenotypes.
Tuberous sclerosis complex (TSC) is a multisystemic genetic disorder with autosomal dominant inheritance, characterized by hamartomas that affect multiple organs, including the central nervous system, skin, heart, kidneys, and lungs. It occurs due to variants in the tumor suppressor genes TSC1 or TSC2. In this case series, we present a subgroup of 7 pediatric patients with variants in the TSC2 gene and discuss their genotypes, phenotypes as well as genotype-phenotype correlation.
Multiple sclerosis (MS) is one of the most debilitating diseases with a considerable financial burden and deteriorating effect on the quality of life for the affected individual, the family and the entire society. Although MS affects young adults, it can develop in children as well. In these cases, the diagnosis of MS could be rather challenging but it should be timely done in order to start the appropriate treatment and avoid unfavorable outcomes. We present the case of multiple sclerosis in a 13-year-old boy in Albania who initially was suspected to be affected by acute disseminated encephalomyelitis and describe the diagnosis procedure challenges.
Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are Xlinked recessive rare diseases caused by various mutations in the DMD gene which induce quantity reduction or absence of the dystrophin protein.Aims: To present variants of the DMD gene, predict clinical severity, and discuss genotype-phenotype correlation as well as potential therapies. Material and Methods: Data was collected from patients of Mother Teresa University Hospital Center, Tirana, Albania, whose diagnosis were confirmed through molecular examinations.Results: In this study, 18 male patients were enrolled. Gross mutations were detected in 11 patients, while point mutations were detected in 7 patients. The detected variants were pathogenic in 13 patients and likely pathogenic in 5 patients. The age at clinical onset was approximately 2 years old in 10 patients, 3 years old in 6 patients, 9 years old in 1 patient, and 14 years old in 1 patient. Age at the loss of ambulation was approximately 10 years in 3 patients, 11 years in 3 patients, 12 years in 2 patients, and 14 years old in 1 patient, while 9 patients are still ambulant. Signs and symptoms included muscular, skeletal, nervous, cardiovascular, and respiratory systems. Altogether, 16 patients were diagnosed with DMD and 2 patients were diagnosed with BMD.
Conclusion:The genetic analysis cannot predict the course and severity of the dystrophinopathy. Genetic test results must always be evaluated in the context of clinical findings, family history, and other data, yet they are crucial for therapy customization.
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