Pheochromocytoma/Paraganglioma Syndrome Type 1 Presenting with Atypical Symptoms and a Novel Pathogenic Variant in the SDHD Gene: A Case Report.
Arch Iran Med
; 27(8): 447-451, 2024 Aug 01.
Article
in En
| MEDLINE
| ID: mdl-39306716
ABSTRACT
This case report presents a 10-year-old patient diagnosed with pheochromocytoma/paraganglioma syndrome type 1 (PPGL1), underlined by a novel heterozygous pathogenic variant (c.154_161del, p.ser52Profster14) in the SDHD gene. Initially, the patient manifested symptoms unusual for pheochromocytoma, including polyuria and polydipsia; however, further diagnostic investigations revealed a pheochromocytoma (PCC) tumor in the adrenal gland. Subsequently, whole exome sequencing (WES) test identified a pathogenic frameshift variant in the SDHD gene, strongly suggestive of PPGL1. This study highlights the importance of considering atypical symptoms in diagnosing rare pediatric pheochromocytoma/paraganglioma tumors and underscores the value of genetic testing in identifying underlying genetic causes, thereby facilitating personalized management of the condition.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pheochromocytoma
/
Succinate Dehydrogenase
/
Adrenal Gland Neoplasms
Limits:
Child
/
Humans
/
Male
Language:
En
Journal:
Arch Iran Med
Year:
2024
Document type:
Article