PMID- 36528881
OWN - NLM
STAT- MEDLINE
DCOM- 20230202
LR  - 20230202
IS  - 2354-4716 (Electronic)
IS  - 0172-780X (Linking)
VI  - 43
IP  - 4
DP  - 2022 Nov 30
TI  - Rare clinical manifestation of multiple endocrine neoplasia type 1.
PG  - 199-207
AB  - OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is a rare disorder 
      characterized by tumors in various endocrine glands. It is caused by a mutation 
      in the MEN1 gene. This gene encodes menin, a protein that regulates cell 
      proliferation. The clinical manifestation of the syndrome most commonly involves 
      hyperparathyroidism and pancreatic, pituitary gland, and adrenocortical adenomas. 
      Although the first symptoms of the disease usually occur in patients under the 
      age of 20, the data on MEN1 in children is scarce. Here, we report a case study 
      of a familial MEN1 syndrome with a central nervous system ganglioglioma, 
      a manifestation that has not been characterized so far. CASE REPORT: The 
      diagnosis of a 17-year-old boy with hypoglycemia of unknown origin revealed the 
      presence of a pancreatic tumor. As kidney stone disease and acute pancreatitis 
      were reported in his father, and his asymptomatic sister was initially diagnosed 
      with a pancreatic tumor, a familial MEN1 syndrome was suspected. Indeed, a 
      pathogenic mutation within the MEN1 gene was detected. Further diagnosis revealed 
      primary hyperparathyroidism in both children and their father, which is typical 
      of MEN1. The girl also presented with hydrocephalus caused by ganglioglioma of 
      the central nervous system. Surgical treatment was successfully conducted in both 
      children. CONCLUSIONS: The reported family case provides evidence of the 
      diagnostic and therapeutic difficulties related to the MEN1 syndrome. In 
      children, the benefits of an early surgery should be considered in relation to 
      the risks of possible surgical complications and consequences of a loss of 
      endocrine gland function.
FAU - Petriczko, Elzbieta
AU  - Petriczko E
AD  - Department of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and 
      Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.
FAU - Marcinkiewicz, Katarzyna
AU  - Marcinkiewicz K
AD  - Department of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and 
      Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.
FAU - Prokurat, Andrzej
AU  - Prokurat A
AD  - Department of Pediatric Surgery, Provincial Children's Hospital, Bydgoszcz, 
      Poland.
FAU - Sagan, Leszek
AU  - Sagan L
AD  - Department of Neurosurgery and Pediatric Neurosurgery, Pomeranian Medical 
      University, Szczecin, Poland.
FAU - Malkowski, Bogdan
AU  - Malkowski B
AD  - Department of Positron Emission Tomography and Molecular Imaging, Nicolaus 
      Copernicus University in Torun, Ludwik Rydygier Collegium Medicum, Bydgoszcz, 
      Poland.
FAU - Biczysko-Mokosa, Agnieszka
AU  - Biczysko-Mokosa A
AD  - Department of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and 
      Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.
FAU - Horodnicka-Jozwa, Anita
AU  - Horodnicka-Jozwa A
AD  - Department of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and 
      Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.
FAU - Andrysiak-Mamos, Elzbieta
AU  - Andrysiak-Mamos E
AD  - Department of Endocrinology, Metabolic Diseases, and Internal Diseases, 
      Pomeranian Medical University, Szczecin, Poland.
FAU - Syrenicz, Anhelli
AU  - Syrenicz A
AD  - Department of Endocrinology, Metabolic Diseases, and Internal Diseases, 
      Pomeranian Medical University, Szczecin, Poland.
FAU - Kostrzeba, Ewa
AU  - Kostrzeba E
AD  - Department of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and 
      Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.
FAU - Walczak, Mieczyslaw
AU  - Walczak M
AD  - Department of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and 
      Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.
LA  - eng
PT  - Case Reports
PL  - Sweden
TA  - Neuro Endocrinol Lett
JT  - Neuro endocrinology letters
JID - 8008373
SB  - IM
MH  - Male
MH  - Female
MH  - Child
MH  - Humans
MH  - Adolescent
MH  - *Multiple Endocrine Neoplasia Type 1/complications/diagnosis/genetics
MH  - Acute Disease
MH  - *Ganglioglioma/complications
MH  - *Pancreatitis
MH  - *Pancreatic Neoplasms/diagnosis/genetics/complications
MH  - *Brain Neoplasms/complications
EDAT- 2022/12/19 06:00
MHDA- 2023/02/03 06:00
CRDT- 2022/12/18 16:42
PHST- 2021/08/17 00:00 [received]
PHST- 2022/08/20 00:00 [accepted]
PHST- 2022/12/19 06:00 [pubmed]
PHST- 2023/02/03 06:00 [medline]
PHST- 2022/12/18 16:42 [entrez]
AID - NEL430422C02 [pii]
PST - ppublish
SO  - Neuro Endocrinol Lett. 2022 Nov 30;43(4):199-207.