This is a case report of a 48-year-old-woman with scoliosis since early childhood. Recent radiographic spinal assessment revealed the presence of distinctive spinal abnormalities. To the best of our knowledge this is the first clinical report describing a constellation of unusual changes in an elderly woman with a history of infantile idiopathic scoliosis.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1892029 | PMC |
http://dx.doi.org/10.1186/1752-1947-1-25 | DOI Listing |
Eur J Ophthalmol
January 2025
Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples "Federico II", Naples, Italy.
Introduction: Severe visual deprivation during infancy can lead to long-term changes in ocular development, including significant differences in axial length (AL) between eyes. This case report presents three adult patients with monocular infantile visual deprivation who developed substantial AL interocular differences. The aim is to explore the impact of early visual deprivation on AL and its potential implications for myopia progression.
View Article and Find Full Text PDFMol Genet Metab
December 2024
The Children's Hospital of Philadelphia, Neurology, 3401 Civic Center Blvd, Philadelphia 19104, PA, USA. Electronic address:
Metachromatic leukodystrophy (MLD) is a progressive demyelinating disorder resulting from the toxic accumulation of sulfatides. The stereotyped neurodegeneration of MLD is well understood, and cases are categorized into subtypes by age at neurologic onset: late infantile (LI), juvenile (J), and adult. The systemic burden of disease, such as gallbladder involvement, however, is less well characterized.
View Article and Find Full Text PDFInt J Surg Case Rep
December 2024
Department of Pediatric Surgery, Tribhuvan University Teaching Hospital, Kathmandu, Nepal.
Introduction: Achalasia, a rare esophageal disorder with an annual incidence of 0.11 per 100,000 in children, is characterized by impaired lower esophageal sphincter (LES) relaxation and peristalsis. Infantile cases are extremely uncommon and often linked to genetic conditions like Allgrove and Down syndrome.
View Article and Find Full Text PDFEpilepsia
December 2024
Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
Objective: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.
View Article and Find Full Text PDFDev Med Child Neurol
December 2024
Department of Neurology and Neurological Sciences, Stanford University, CA, USA.
Aim: To describe the neurodevelopment and quality of life in SLC13A5 (solute carrier family 13 member 5) citrate transporter disorder (developmental and epileptic encephalopathy 25, DEE25), a rare genetic early infantile epileptic encephalopathy caused by deficiency of a sodium-citrate transporter, characterized by heavy seizure burden in the neonatal period.
Method: We analyzed longitudinal neurodevelopmental outcomes from a prospective natural history study of DEE25, using standardized assessments of Mullen Scales of Early Learning, Peabody Developmental Motor Scales, and Vineland Adaptive Behavior Scales.
Results: There was significant global impairment across the cohort, with variable quality of life and limited genotype-phenotype correlation.
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