PMID- 35296318
OWN - NLM
STAT- MEDLINE
DCOM- 20220328
LR  - 20220328
IS  - 1472-6823 (Electronic)
IS  - 1472-6823 (Linking)
VI  - 22
IP  - 1
DP  - 2022 Mar 16
TI  - Occult insulinoma with treatment refractory, severe hypoglycaemia in multiple 
      endocrine neoplasia type 1 syndrome; difficulties faced during diagnosis, 
      localization and management; a case report.
PG  - 68
LID - 10.1186/s12902-022-00985-w [doi]
LID - 68
AB  - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN 1) syndrome is a rare, 
      complex genetic disorder characterized by increased predisposition to 
      tumorigenesis in multiple endocrine and non-endocrine tissues. Diagnosis and 
      management of MEN 1 syndrome is challenging due to its vast heterogeneity in 
      clinical presentation. CASE PRESENTATION: A 23-year-old female, previously 
      diagnosed with Polycystic Ovarian Syndrome (PCOS) and pituitary microprolactinoma 
      presented with drowsiness,confusion and profuse sweating developing over a period 
      of one day. It was preceded by fluctuating, hallucinatory behavior for two weeks 
      duration. There was recent increase in appetite with significant weight gain. 
      There was no fever, seizures or symptoms suggestive of meningism. Her Body mass 
      index(BMI) was 32 kg/m(2).She had signs of hyperandrogenism. Multiple cutaneous 
      collagenomas were noted on anterior chest and abdominal wall. Her Glasgow Coma 
      Scale was 9/15. Pupils were sluggishly reactive to light. Tendon reflexes were 
      exaggerated with up going planter reflexes. Moderate hepatomegaly was present. 
      Rest of the clinical examination was normal. Laboratory evaluation confirmed 
      endogenous hyperinsulinaemic hypoglycaemia suggestive of an insulinoma. 
      Hypercalcemia with elevated parathyroid hormone level suggested a parathyroid 
      adenoma. Presence of insulinoma, primary hyperparathyroidism and pituitary 
      microadenoma, in 3(rd) decade of life with characteristic cutaneous tumours was 
      suggestive of a clinical diagnosis of MEN 1 syndrome. Recurrent, severe 
      hypoglycaemia complicated with hypoglycaemic encephalopathy refractory to 
      continuous, parenteral glucose supplementation and optimal pharmacotherapy 
      complicated the clinical course. Insulinoma was localized with selective arterial 
      calcium stimulation test. Distal pancreatectomy and four gland parathyroidectomy 
      was performed leading to resolution of symptoms. CONCLUSIONS: Renal calculi or 
      characteristic cutaneous lesions might be the only forewarning clinical 
      manifestations of an undiagnosed MEN 1 syndrome impending a life-threatening 
      presentation. Comprehensive management of MEN 1 syndrome requires 
      multi-disciplinary approach with advanced imaging modalities, advanced surgical 
      procedures and long-term follow up due to its heterogeneous presentation and the 
      varying severity depending on the disease phenotype.
CI  - (c) 2022. The Author(s).
FAU - Ranaweerage, Rasika
AU  - Ranaweerage R
AUID- ORCID: 0000-0002-5065-5940
AD  - Registrar in General Medicine, National Hospital of Sri Lanka, Ward 45/46, 
      Colombo, Sri Lanka. rranaweerage@gmail.com.
FAU - Perera, Shehan
AU  - Perera S
AD  - Registrar in General Medicine, National Hospital of Sri Lanka, Ward 45/46, 
      Colombo, Sri Lanka.
FAU - Sathischandra, Harsha
AU  - Sathischandra H
AD  - Registrar in General Medicine, National Hospital of Sri Lanka, Ward 45/46, 
      Colombo, Sri Lanka.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20220316
PL  - England
TA  - BMC Endocr Disord
JT  - BMC endocrine disorders
JID - 101088676
SB  - IM
MH  - Adult
MH  - Female
MH  - Humans
MH  - *Hypoglycemia/diagnosis/etiology/surgery
MH  - *Insulinoma/diagnosis/etiology/surgery
MH  - *Multiple Endocrine Neoplasia Type 1/complications/diagnosis/surgery
MH  - Pancreatectomy
MH  - Parathyroidectomy
MH  - Young Adult
PMC - PMC8925226
OTO - NOTNLM
OT  - Collagenomas
OT  - Insulinoma
OT  - Multiple endocrine Neoplasia type 1
OT  - Refractory hypoglycaemia
OT  - Selective arterial calcium stimulation test
COIS- The authors declare that they do not have any competing interests.
EDAT- 2022/03/18 06:00
MHDA- 2022/03/29 06:00
PMCR- 2022/03/16
CRDT- 2022/03/17 05:30
PHST- 2021/05/16 00:00 [received]
PHST- 2022/03/09 00:00 [accepted]
PHST- 2022/03/17 05:30 [entrez]
PHST- 2022/03/18 06:00 [pubmed]
PHST- 2022/03/29 06:00 [medline]
PHST- 2022/03/16 00:00 [pmc-release]
AID - 10.1186/s12902-022-00985-w [pii]
AID - 985 [pii]
AID - 10.1186/s12902-022-00985-w [doi]
PST - epublish
SO  - BMC Endocr Disord. 2022 Mar 16;22(1):68. doi: 10.1186/s12902-022-00985-w.