Front Endocrinol (Lausanne) 2021 18;12:655290. Epub 2021 Feb 18.
Movement Disorders Clinic, Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital (IRCCS), Rome, Italy.
J Pediatr Endocrinol Metab 2021 Jun 24. Epub 2021 Jun 24.
Department of Pediatrics, Teine Keijinkai Hospital, Sapporo, Japan.
Objectives: Thyroid storm (TS) is a rare but life-threatening condition caused by decompensated hyperthyroidism. There is no consensus on how to diagnose pediatric TS. We report three pediatric cases of TS presenting with central nervous system (CNS) and gastrointestinal (GI) symptoms as the initial presentation of Graves' disease. Read More
Pediatric Endocrinology, NYU Langone Medical Center, New York, USA.
Objectives: Hashimoto's thyroiditis (HT) is characterized by lymphocytic thyroid infiltration. Gradual thyroid failure can occur due to thyroid cell apoptosis. Rarely neurological autoimmunity due to glutamic acid decarboxylase (GAD) antigen can co exist with HT. Read More
J Pediatr Endocrinol Metab 2021 Jun 23. Epub 2021 Jun 23.
Department of Pediatric Metabolism, Dr. Sami Ulus Maternity and Child Health Training and Research Hospital, Ankara, Turkey.
Objectives: X-linked adrenoleukodystrophy (X-ALD), is a peroxisomal inborn error of metabolism caused due to the loss of function variants of gene that leads to accumulation of very long chain fatty acids (VLCFAs) in several tissues including the neurological system. Childhood cerebral X-ALD (CCALD) is the most common and severe form of X-ALD, if left untreated. Allogenic hematopoietic stem cell transplantation (HSCT) is the only available therapy that halts neurological deterioration in CCALD. Read More
Department of Pediatrics, Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.
Objectives: Congenital disorders of glycosylation (CDGs) are a group of genetic disorders due to hypoglycosylation of proteins and lipids. A type I pattern is associated with defects in glycan assembly and transfer (CDG-I; cytosol; and endoplasmic reticulum defects), a type II pattern is seen in processing defects of the Golgi apparatus. MAN1B1-CDG is an autosomal recessive CDG-II due to mutations in the 1,2-mannosidase gene (MAN1B1), mainly characterized by psychomotor disability, facial dysmorphism, truncal obesity, and hypotonia. Read More
J Pediatr Endocrinol Metab 2021 Jun 21. Epub 2021 Jun 21.
Department of Pediatric Neurology, Ankara, Turkey.
Objectives: Congenital disorders of glycosylation (CDGs) are rare inherited metabolic disorders associated with facial dysmorphism and in the majority of the patients, there is an important neurological impairment. Epilepsy was a main concern in rare forms of the disease. There are two groups of the disease: CDG-I results from the defects in glycan addition to the N-terminal and CDG-II occurs due to defects in the processing of protein bound glycans. Read More