Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

Cardiac involvement (CI) in phosphomannomutase 2-congenital disorders of glycosylation (PMM2-CDG) is part of the multisystemic presentation contributing to high mortality rates. The most common cardiac manifestations are pericardial effusion, cardiomyopathy, and structural heart defects. A genotype-phenotype correlation with organ involvement has not yet been described.

The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia.

Rare diseases are an important population health issue and many promising therapies have been developed in recent years. In light of novel genetic treatments expected to significantly improve spinal muscular atrophy (SMA) patients' quality of life and the urgent need for SMA newborn screening (NBS), new epidemiological data were needed to implement SMA NBS in Estonia. We aimed to describe the birth prevalence of SMA in the years 1996-2020 and to compare the results with previously published data.

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.

Here we report on a case of MYH7-related myopathy in a boy with early onset of muscular weakness and delayed motor development in infancy. His most affected muscles were neck extensors showing a dropped head sign, proximal muscles of lower limbs with positive Gower's sign, and trunk muscles. Brain and spinal cord MRI scans, echocardiography, and laboratory analyses including creatine kinase and lactate did not reveal any abnormalities.

Outcome of infants with inflicted traumatic brain injury (shaken baby syndrome) in Estonia.

Unlabelled: This is a population-based prospective study to identify the long-term outcome of children with inflicted traumatic brain injury (ITBI). Twenty-two survivors were identified and followed up. Only 2 of 22 had no developmental problems at follow-up, 20 of 22 children were having different developmental problems, among them 3 of 22 were severely handicapped.

Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented.

In 2000-2004, we performed a focused search for individuals with Angelman syndrome (AS) and Prader-Willi syndrome (PWS) aiming to establish the prevalence data for the individuals born between 1984 and 2004 in Estonia. All persons with probable AS or PWS (n = 184) were studied using the DNA methylation test. Individuals with abnormal methylation were all further tested by chromosomal and FISH analysis, and if necessary for uniparental disomy and UBE3A gene mutation.

Inflicted traumatic brain injury (ITBI) or shaken baby syndrome (SBS) in Estonia.

Background: Inflicted traumatic brain injury (ITBI) or shaken baby syndrome (SBS) is recognized as a major cause of disability and death in the paediatric population.

Aim: To find out the incidence of ITBI in Estonia.

Methods: 26 cases of ITBI were recognized: four children died, 22 survived.