Optic nerve hypoplasia is a congenital disc anomaly associated with growth hormone deficiency (GHD). Pseudotumor cerebri is an adverse event associated with growth hormone treatment (hGH) and manifested by increased intracranial pressure and papilledema. Pseudopapilledema is a generic ophthalmologic term encompassing several conditions, including congenital disc anomalies. It is benign and can be distinguished from papilledema by physical examination. The objective of this report is to document that congenital disc abnormalities, which can be confused with papilledema, occur in children with GHD. Three patients with GHD had fundoscopic examinations suggestive of papilledema and possibly pseudotumor cerebri. The abnormal optic nerves were characteristic of pseudo-papilledema, and appear to be a variant of optic nerve hypoplasia. The finding of optic disc abnormality during hGH may reflect pseudo-papilledema and not pseudotumor cerebri. Of equal importance, the reported patients indicate that the finding of pseudopapilledema in short children should suggest the possibility of GHD.
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http://dx.doi.org/10.1515/jpem.1998.11.2.261 | DOI Listing |
Rationale: Congenital ectropion uveae (CEU) is a rare, nonprogressive anomaly characterized by the proliferation of the iris pigment epithelium on the anterior surface of the iris, often associated with glaucoma. Due to its rarity and complexity, standardized glaucoma surgical management is limited. To our knowledge, the application of glaucoma drainage devices in CEU is rarely documented.
View Article and Find Full Text PDFJ Neurol
January 2025
Department of Neurology and Neurosciences, Donostia University Hospital, Biogipuzkoa Health Research Institute, Donostia-San Sebastián, Spain.
Background: Alpha-actinin-2, a protein with high expression in cardiac and skeletal muscle, is located in the Z-disc and plays a key role in sarcomere stability. Mutations in ACTN2 have been associated with both hypertrophic and dilated cardiomyopathy and, more recently, with skeletal myopathy.
Methods: Genetic, clinical, and muscle imaging data were collected from 37 patients with an autosomal dominant ACTN2 myopathy belonging to 11 families from Spain and Belgium.
J Community Genet
January 2025
Laboratório de Hormônios e Genética Molecular-LIM42, Disc de Endocrinologia do Hospital das Clínicas, da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Neonatal screening is a critical public health initiative introduced worldwide to detect severe congenital disorders early in life. This study provides an updated overview of public neonatal screening in Brazil, highlighting the transition from initial pilot projects to a robust national program. Through the analysis of recent data up to 2023, we discuss the coverage and regional efficiencies of the program.
View Article and Find Full Text PDFJ Pediatr Orthop B
March 2025
Department of General Surgery and Medical Surgical Specialties, Section of Orthopaedics and Traumatology, A.O.U.P. Policlinico Rodolico - San Marco, University of Catania, Catania.
This study evaluated the static, postural, dynamic, and clinical outcomes among five groups of patients: a bilateral CTEV (congenital talipes equinovarus) group treated with tenotomy ( n = 14), bilateral CTEV group treated conservatively ( n = 6), unilateral CTEV group treated with tenotomy ( n = 7), unilateral CTEV group treated conservatively ( n = 3), and control group ( n = 20). Data were collected through baropodometric examinations and clinical evaluations using Pirani, clubfoot assessment protocol, foot and ankle disability index (FADI), and American Orthopedic Foot and Ankle Society scores. Bilateral CTEV patients treated with tenotomy showed no statistically significant differences compared to healthy controls.
View Article and Find Full Text PDFNeurospine
December 2024
Department of Neurosurgery, Chosun University Hospital, Gwangju, Korea.
This case report and video demonstrate the technique of full-endoscopic J-shaped transforaminal L5 exiting nerve decompression in Bertolotti syndrome. Bertolotti syndrome, characterized by a congenital lumbosacral transitional vertebra, often results in mechanical lower back pain and nerve root compression. A 69-year-old male presented with progressive radiating pain in the right leg and tingling in the L5 dermatome.
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