Results 51 to 60 of about 1,145,248 (156)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1543-1557, August 2026.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Unusual MRI features in a case of presumed canine tick‐borne meningoencephalomyelitis

Veterinary Record Case Reports, Volume 14, Issue 3, August 2026.
Abstract A 7‐year‐old, standard, wire‐haired dachshund presented with quickly progressive multifocal central nervous system signs, which localised to the brainstem and cervical myelopathy, including reduced cervical and thoracic limb muscle tone and withdrawal reflexes. Magnetic resonance imaging revealed bilateral, approximately symmetric, T2‐weighted
Jon Prager, Alex Smith, Hélène Vandenberghe   +2 more
wiley   +1 more source

Pituitary metastasis presenting with visual loss and Foster–Kennedy syndrome: Case report and review of literature

Indian Journal of Ophthalmology. Case Reports
Foster–Kennedy syndrome (FKS) is often associated with intracranial pathologies in the anterior cranial fossa. Herein, we describe an unusual case of pituitary metastasis presenting as FKS and severe visual loss with a relevant literature review.
Sumit Monga, Vimal K Agarwal, Deepti Verma, Naveen Agarwal   +3 more
doaj   +1 more source

Mycoplasma bovis involved in pituitary abscess syndrome in a beef heifer concomitantly infected with haemoparasites

Veterinary Record Case Reports, Volume 14, Issue 3, August 2026.
Abstract This case report describes pituitary abscess syndrome (PAS) in a 20‐month‐old Blonde d'Aquitaine heifer with cranial nerve deficits (V, VII, VIII, IX, X and XII) associated with facial hemiparesis, head tilt, ataxia and dysphagia, pneumonia and otitis interna.
Chloé Saada, Manon Gonçalves‐Brandao, Hortensia Robert, Renaud Maillard, Laurent‐Xavier Nouvel   +4 more
wiley   +1 more source

The presenting visual symptoms of optic chiasmal disease

, 2022
\ua9 The Author(s) 2022.Recognising optic chiasmal disease early is important in order to avoid irreversible visual loss and the potential risk of mortality for patients. Yet, there is frequently a delay in the initial diagnosis.
Hickman SJ, Jefferis JM, Innes WA
core   +3 more sources

Congenital orbital teratoma

Indian Journal of Ophthalmology, 2013
We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which
Shereen Aiyub, WengOnn Chan, John Szetu, Laurence J Sullivan, John Pater, Peter Cooper, Dinesh Selva   +6 more
doaj   +1 more source

Can acromegaly be controlled in all cases?

Journal of Neuroendocrinology, Volume 38, Issue 8, August 2026.
Abstract Acromegaly is a rare disease, due in most of the cases to a growth hormone (GH)‐secreting pituitary adenoma (PA), namely neuroendocrine tumour (PitNET). The treatment of patients with acromegaly is multimodal and multi‐step, including surgery, medical therapies, and radiotherapy.
Sabrina Chiloiro, Francesco Padovano Sorrentino, Alessandra Vicari, Antonella Giampietro, Pier Paolo Mattogno, Quintino Giorgio D'Alessandris, Rosalinda Calandrelli, Tommaso Tartaglione, Marco Gessi, Simona Gaudino, Laura De Marinis, Guido Rindi, Francesco Doglietto, Antonio Bianchi, Alfredo Pontecorvi   +14 more
wiley   +1 more source

A unique case of phaeohyphomycosis subretinal abscess in a patient with arthropathy and lung pathology

Indian Journal of Ophthalmology, 2013
A 67-year-old former gold miner with rheumatoid arthritis, treated with steroids and methotrexate, presented to eye casualty with a painful right eye.
Bryan J Matthews, David Partridge, Richard M Sheard, Ian G Rennie, Hardeep Singh Mudhar   +4 more
doaj   +1 more source

Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)

Journal of Paediatrics and Child Health, Volume 62, Issue 8, Page 1499-1508, August 2026.
ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani, Giulia Gortani, Andrea Magnolato, Flora Maria Murru, Elisabetta Cattaruzzi, Laura Diplotti, Paola Michieletto, Silvia Giganti, Davide Zanon, Alessandra Maestro, Valentina Kiren, Egidio Barbi, Irene Bruno   +12 more
wiley   +1 more source