[Hypotonic infant].

Hypotonia of the newborn or infant is defined as decreased resistance to passive movement and is a frequent diagnostic challenge in pediatric practice. The hypotonic syndrome is a working diagnosis and its etiology must be identified to determine associated morbidities, prognosis, and management. Rapid advances in bioinformatics and molecular genetic testing allow for early accurate diagnoses in the diagnostic process.

Neuromuscular complications of severe COVID-19 in paediatric patients: Medium-term follow-up.

Neuromuscular complications in paediatric patients with severe coronavirus disease 2019 (COVID-19) are poorly characterised. However, adult patients with severe COVID-19 reportedly present with frequent neuromuscular complications that mainly include critical illness polyneuropathy (CIP), critical illness myopathy (CIM), and focal neuropathies. We examined the records of all paediatric patients with severe COVID-19 who were mechanically ventilated and experienced neuromuscular complications from our single tertiary centre between March 2020 and August 2021.

[Influenza A-associated acute necrotizing encephalopathy].

Introduction: Acute necrotizing encephalopathy of childhood (ANEC) is a rare disease characterized by alteration of consciousness and multiple symmetric brain lesions mainly involving the thalamus. It presents a high mortality rate and severe sequelae.

Objective: To describe a school-age patient with influenza A-related ANEC with favorable evolution.

Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly.

Neutral lipid storage disease with myopathy is an ultra-rare, inherited autosomal recessive neuromuscular metabolic disorder caused by pathogenic variants in PNPLA2. It typically presents in adults as a progressive myopathy and is associated with myocardiopathy, hepatic involvement, and high creatine kinase levels. Only three children and adolescents with neutral lipid storage disease with myopathy have been reported.

Guillain-Barré Syndrome and Hydrocephalus in an infant with Wiskott-Aldrich Syndrome.

Introduction: Guillain-Barre Syndrome (GBS) is rarely diagnosed in the first year of life. The association of GBS with Wiskott-Aldrich syndrome (WAS) is even less frequent and has been previously reported in only two children to our knowledge. Hydrocephalus is a known but rare complication of GBS.

Pediatric sciatic neuropathy: Clinical presentation and long term follow up.

Introduction: Sciatic neuropathy is rare and difficult to diagnose in pediatrics, and its long-term course has not been completely understood.

Objective: To analyze the clinical presentation and evolution of a group of pediatric patients with sciatic neuropathy.

Patients And Method: Retrospective anal ysis of the clinical characteristics of pediatric patients with sciatic neuropathy treated in two hospitals of Santiago between 2014 and 2018.

Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant.

Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1. Among the subtypes, myotonia permanens, associated with the Gly1306Glu variant of SCN4A, is a relatively less frequent but more severe form. Most reports of non-dystrophic myotonias describe European populations.

Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience.

Introduction: Mucopolysaccharidoses (MPS) are rare and clinically heterogeneous lysosomal storage disorders. Carpal tunnel syndrome (CTS) is a frequent complication in MPS types I, II, VI, and VII. CTS symptoms are difficult to recognize in these children, and often there is a lack of appropriate investigations.

[Fibrodysplasia ossificans progressiva. Report of one case].

Fibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.000.000.

Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports.

Background: The myopathic form of carnitine palmitoyltransferase type II deficiency is an inherited autosomal recessive metabolic myopathy usually starting in childhood. Most reports have been on European and Japanese populations, and no Native South American patients have been reported to date. The p.

Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.

Introduction: The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM).

Methods: Whole-body magnetic resonance imaging (WBMRI) was used in 9 patients using T1-weighted turbo spin-echo (T1-TSE) sequences and short tau inversion recovery (STIR) in 5 patients.

Results: Analysis of signal and volume abnormalities by T1-TSE sequences in 109 muscles showed a homogeneous pattern characterized by a recognizable combination of atrophy and signal abnormalities in selected muscles of the neck, trunk, pelvic girdle, and lower limbs.

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

Distal arthrogryposis (DA) is a heterogeneous subgroup of arthrogryposis multiplex congenita (AMC), a large family of disorders characterized by multiple congenital joint limitations due to reduced fetal movements. DA is mainly characterized by contractures afflicting especially the distal extremities without overt muscular or neurological signs. Although a limited number of genes mostly implicated in the contractile apparatus have been identified in DA, most patients failed to show mutations in currently known genes.

Whole body muscle MRI protocol: pattern recognition in early onset NM disorders.

A paediatric and adult whole-body MRI (WB-MRI) protocol using a 1.5-T MRI system was used to examine 117 individuals (106 patients, 11 asymptomatic relatives). Genetic diagnosis was obtained in 38 subjects (RYR1, LMNA, COL6, DNM2, GAA, TPM2, SGCA, MYH7, NEB, SMN, FKBP14).