Early diagnostic clues of mucolipidosis type II: Significance of radiological findings.

Mucolipidosis type-II (ML-II) is an ultra-rare disorder caused by deficiency of N-acetylglucosaminyl-1-phosphotransferase enzyme due to biallelic pathogenic variants in GNPTAB gene. There are a few known about the natural history of ML-II. In this study, we presented the natural course of 24 patients diagnosed with ML-II.

Actions speak louder than words: Home visits and its effect on dietary adherence in patients with phenylketonuria.

Aim: Phenylketonuria (PKU) is an inherited metabolic disorder in which accumulation of phenylalanine (Phe) leads to poor neurological outcomes without treatment. Dietary therapy is the main treatment and nonadherence is associated with elevated blood Phe levels and correspondingly poor neuropsychiatric outcomes. This study aimed to examine the effect of home visits on blood Phe levels in PKU patients.

Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis.

Gaucher disease (GD) is the most frequent lysosomal storage disorder due to biallelic pathogenic variants in GBA gene. Only homozygous D409H variant has been associated with the cardiovascular phenotype which is also known as Gaucher disease type 3c. In this descriptive study, we presented phenotypic heterogeneity and a novel clinical finding among 13 patients with GD type 3c.

Continuous Erector Spinae Plane Catheter for Analgesia After Infant Thoracotomy: A Case Report.

The erector spinae plane block is an emerging technique for the provision of thoracolumbar analgesia with reported pediatric applications. We describe the placement of a continuous erector spinae plane catheter at the T5-T6 level in a 7-month-old infant who was undergoing thoracotomy for left upper lobectomy due to congenital pulmonary airway malformation. This technique resulted in outstanding analgesia without the need for opioid rescue analgesia.