Neurodevelopment of Critical ILL Neonates at the Age of 12 Months.

Critically ill neonates who survive are often left with dire consequences. Cerebral palsy, other neurological and motor deficiencies, intellectual disability, and various degrees of cognitive and behavioral deficiencies all result from neonatal critical diseases. We investigated psychomotor development in 20 children with hypoxic-ischemic encephalopathy (HIE), and as newborns often have multiple comorbidities, the following as well: HIE with respiratory distress syndrome (RDS), infections, hypo and hyperglycemia and hypocalcemia.

Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a genetically and clinically heterogeneous disorder with four described subtypes. Autosomal recessive syndrome of cerebellar ataxia, mental retardation, and disequilibrium type 4 (CAMRQ4) is caused by mutations in the gene. We report an 8-year-old boy with choreoathetosis, hypotonia, without the ability to keep his head up and profound mental retardation.

Two Brothers from Macedonia with Gitelman Syndrome.

Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the gene. The clinical features may overlap with other disorders, such as Bartter syndrome type 3, HNF1B nephropathy or even mitochondrial disease, but can be distinguished by molecular genetic analysis. Here we report on two preschool brothers, who presented with a several months' history of episodes of carpopedal spasms and muscle aches.

Peripheral Insulin Edema and Pericardial Effusion in a 12-Year-Old Newly Diagnosed Girl with Type 1 Diabetes.

: Insulin induced edema (IIE) is a rare condition, usually found in newly diagnosed diabetes patients, either after insulin treatment initiation or after dose increment. It is a self-limited process, rarely associated with serosal effusions. Teenage girls with type 1 diabetes (T1DM) are most commonly affected.