Pituicytoma is a rare low degree tumor that arises from pituicytes in the infundibulum and posterior pituitary gland. As they do not have characteristic radiological features, they can be misdiagnosed as pituitary adenoma, meningioma, or craniopharyngioma. Clinically, patients can present with hormonal disturbances, headaches and visual field defects. A 46 year old male who presented with visual field defects and symptoms suggestive of panhypopituitarism for the past 3 years, is described. As a personal history, he had neurofibromatosis type 1 and his daughter, with the same disease, who has been operated of astrocytoma. Upon clinical assessment, the patient's ophthalmic examination was bitemporal hemianoptia, and hormonal evaluation confirmed hypopituitarism. Pituitary magnetic resonance imaging showed a suprasellar homogeneous enhancing post-gadolinium mass causing chiasmatic displacement. Transnasal transsphenoidal resection was performed. Postoperatively, the patient developed diabetes insipidus. Histopathology showed patterns consistent with pituicytoma. and immunohistochemistry confirmed it. Total resection remains the goal of treatment.
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J Am Acad Child Adolesc Psychiatry
December 2024
Murdoch Children's Research Institute, Australia and The University of Melbourne, Australia.
Objective: This meta-analysis aimed to robustly estimate differences in attention-deficit/hyperactivity disorder (ADHD) symptoms between children and adolescents with and without neurofibromatosis type 1 (NF1).
Method: Systematic literature searches were conducted in Scopus, PsycINFO, Web of Science, PubMed, and ProQuest in September 2022 with a supplemental search conducted in Google Scholar in February 2023. The searches identified 2153 unique articles.
Abdom Radiol (NY)
December 2024
Department of Radiology, The First Affiliated Hospital, Sun Yat-Sen University, No.58, Second Zhongshan Road, Yuexiu District, Guangzhou, Guangdong, 510080, China.
Pancreatic neuroendocrine neoplasms (pNENs) are the second most common pancreatic malignancy. While most cases are sporadic, a small proportion is associated with genetic syndromes, such as Multiple Endocrine Neoplasia (MEN), Von Hippel-Lindau Syndrome (VHL), Neurofibromatosis Type 1 (NF1), and Tuberous Sclerosis Complex (TSC). This review aims to use pNENs as a clue to reveal the full spectrum of disease, providing a comprehensive understanding of diagnosis.
View Article and Find Full Text PDFNeurol India
November 2024
Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.
Objective: To catalog and correlate the clinical features and mutational spectrum of neurofibromatosis type 1 (NF1) patients attending a tertiary care center in India.
Methods: NF1 patients with confirmed molecular diagnosis from 2014 to 2021 were included in the study. The molecular tests used for the diagnosis were exome sequencing, targeted gene sequencing, and Multiple Ligation Probe Assay.
JAAD Case Rep
December 2024
Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas.
J Clin Med
December 2024
Département de Neurochirurgie, CHU Clermont-Ferrand, 63000 Clermont-Ferrand, France.
: Vestibular schwannomas (VSs), also called acoustic neuromas, are benign tumors affecting the vestibulocochlear nerve, often leading to hearing loss and balance issues. This condition is particularly challenging in patients with neurofibromatosis type 2 (NF2), where VSs tend to develop bilaterally. Conventional treatments, such as surgery and radiotherapy, although effective, carry risks like hearing loss and nerve damage.
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