Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases.

Spondyloenchondrodysplasia with immune dysregulation related to ACP5 (SPENCDI, OMIM number 607944) is an uncommon immune-skeletal dysplasia with heterogeneous manifestations and variable severity. It is characterized by spondylar and metaphyseal lesions, immune dysfunction, and neurological involvement. Here we report the clinical, radiological and genetic aspects of 4 girls with SPENCDI treated at a children's hospital.

Initial management of acute hyperammonemia in pediatrics.

Hyperammonemia is a medical emergency. There are no publications regarding the availability of resources, supplies, and knowledge necessary for the initial management of hyperammonemia by pediatricians in Argentina; however, according to the authors' experience, the necessary resources are not available all year round in a large portion of our territory. Based on such state of affairs, an international bibliographic review on this topic and the authors' experience, we developed a series of ecommendations for the initial pediatric management of this emergency, with the objective of reducing deficiencies, allowing adequate clinical suspicion leading to a timely diagnosis and emergency management and a rational use of pharmacological resources (some of which are costly) to reduce the morbidity and mortality associated with hyperammonemia.

[Aciduria argininosuccínica: informe de un caso de inicio neonatal].

Urea cycle defects are inborn errors of metabolism produced by a defect in one of the enzymes responsible for the detoxification of ammonia, which generates its accumulation in the body. The clinical manifestations can present early, with high morbidity and mortality, or late onset. The heterogeneity of the symptoms and the lack of clinical suspicion in neonates leads to a wrong diagnosis, which can be confused with neonatal sepsis or cerebral hemorrhages.

A few challenges in mucopolysaccharidosis type I.

Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to clinical suspicion of severe and attenuated forms; spinal and eye disease care, from diagnosis to follow-up and treatment; allergic reactions caused by enzyme replacement therapy, their diagnosis and treatment. And lastly, transition to adult care.

Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.

Human ALG2 encodes an α 1,3mannosyltransferase that catalyzes the first steps in the synthesis of N-glycans in the endoplasmic reticulum. Variants in ALG2cause a congenital disorder of glycosylation (CDG) known as ALG2-CDG. Up to date, nine ALG2-CDG patients have been reported worldwide.

Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.

Background: Congenital Disorders of Glycosylation (CDG) are genetic diseases caused by hypoglycosylation of glycoproteins and glycolipids. Most CDG are multisystem disorders with mild to severe involvement.

Methods: We studied 554 patients (2007-2017) with a clinical phenotype compatible with a CDG.

[Juvenile form of Sandhoff disease: first case reported in Argentina].

Sandhoff disease is a neurodegenerative, lysosomal and autosomal recessive disease caused by mutations in the HEXB gene. Three forms are recognized: infantile, juvenile and adult. Previously, an endogamous population in Córdoba, Argentina, was identified with a high incidence of Sandhoff disease, all reported cases were of the infantile type.

Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification.

The genetic diagnosis algorithm for mitochondrial (mt) diseases starts looking for deletions and common mutations in mtDNA. MtDNA's special features, such as large and variable genome copies, heteroplasmy, polymorphisms, and its duplication in the nuclear genome as pseudogenes (NUMTs), make it vulnerable to diagnostic misleading interpretations. Multiplex Ligation-dependent Probe Amplification (MLPA) is used to detect copy number variations in nuclear genes and its application on mtDNA has not been widely spread.