Acquired unilateral alacrima as a presenting sign of an intracranial tumor is exceptionally rare, and only described once previously in a case of nasopharyngeal carcinoma. The authors present a 32-year-old female patient who presents with a year-long history of alacrima and arhinorrhea. She was subsequently diagnosed with a petroclival chondrosarcoma extending into Meckel's cave and the cavernous sinus and underwent surgical debulking. To the authors' knowledge, this is the first reported case of acquired unilateral alacrima as a presenting feature of a skull base chondrosarcoma. This case serves to remind general ophthalmologists and oculoplastic surgeons alike that acquired alacrima may be the presenting feature of serious intracranial disease.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/IOP.0000000000001683 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Two siblings with triple A syndrome.
BMJ Case Rep
November 2024
Department of Medicine, Mahadevappa Rampure Medical College, Kalaburagi, Karnataka, India.
Triple A syndrome is a rare autosomal recessive disorder presenting as adrenal insufficiency, achalasia and alacrima, often accompanied by neurological complications. We present the cases of two siblings, a girl (patient 1) and a boy (patient 2) in their early adolescence, born from a consanguineous marriage. At the age of 4, patient 1 developed progressive dysphagia when consuming both solid and liquid foods, while patient 2 began displaying abnormal gait by 2 years.
View Article and Find Full Text PDFVery early and severe presentation of Triple A syndrome - case report and review of the literature.
Front Endocrinol (Lausanne)
October 2024
Department of Pediatrics, Faculty of Medicine and University, Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Article Synopsis
- Triple A syndrome (TAS), also known as Allgrove syndrome, is a rare genetic disorder characterized by three main symptoms: alacrima (lack of tears), achalasia (difficulty swallowing), and adrenal insufficiency.
- The disorder is caused by mutations in the ALADIN gene located on chromosome 12q13, affecting protein transport within cells and leading to various neurological issues in many patients.
- A case study details an infant who showed severe symptoms of TAS at just six months, resulting in complications like neurogenic bladder and acute pancreatitis, leading to a fatal outcome by 25 months, highlighting the importance of early diagnosis and awareness of the syndrome's variability.
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.
HGG Adv
October 2024
Department of Clinical Genetics, Erasmus University Medical Center, Dr. Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
Nuclear pore complexes (NPCs) regulate nucleocytoplasmic transport and are anchored in the nuclear envelope by the transmembrane nucleoporin NDC1. NDC1 is essential for post-mitotic NPC assembly and the recruitment of ALADIN to the nuclear envelope. While no human disorder has been associated to one of the three transmembrane nucleoporins, biallelic variants in AAAS, encoding ALADIN, cause triple A syndrome (Allgrove syndrome).
View Article and Find Full Text PDFHELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases.
Genes (Basel)
May 2024
Pediatric Research, Murcian Institute for Biosanitary Research (IMIB) Pascual Parrilla, 30120 Murcia, Spain.
Article Synopsis
- HELIX syndrome, caused by mutations in the claudin 10 b protein, presents with symptoms like hypohidrosis, xerophthalmia, and skin issues, and was detailed in a 2017 study involving only ten families.
- In this study, two adult brothers from a consanguineous Spanish family exhibited various symptoms, including skin anomalies and salt-losing nephropathy due to a novel genetic deletion.
- The findings suggest that early recognition of symptoms associated with HELIX syndrome can prevent misdiagnosis, emphasizing the need for specific genetic testing to ensure timely diagnosis and management.
Isolated Congenital Lacrimal Gland Agenesis.
Cureus
April 2024
Department of Radiology, Boston Children's Hospital, Boston, USA.
Congenital alacrima is an uncommon condition marked by a lack of tear production that is present from birth. This condition often occurs in conjunction with various syndromes but can also result from isolated lacrimal gland agenesis. Congenital alacrima should be evaluated in the differential diagnosis for pediatric patients presenting with symptoms of dry eyes, especially in cases without xerostomia or other systemic rheumatologic findings.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!