scholarly journals Congenital hyperinsulinism in newborns and young children: the state of the problem and the results of surgical treatment

2021 ◽  
pp. 226-239
Author(s):  
A. A. Sukhotskaya ◽  
V. G. Bairov ◽  
I. L. Nikitina ◽  
L. B. Mitrofanova ◽  
A. A. Perminova ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Correct Diagnosis ◽  
Psychomotor Development ◽  
Research Centre ◽  
Complete Relief ◽  
Congenital Hyperinsulinism ◽  
Biochemical Basis ◽  
Intravenous Glucose ◽  
Partial Pancreatectomy ◽  
Pet Ct

Congenital hyperinsulinism causes irreversible damage to the cerebral cortex with subsequent disability in children. The article presents the features of etiopathogenesis, clinical picture of the disease. The histological variants of pancreatic lesions are analyzed in detail. The principles of correct diagnosis are formulated. A new in Russia method for the preoperative determination of the histological form of the disease, which is carried out at the y, Almazov National Medical Research Centre since 2017, – PET/ CT with 18F-DOPA, explained the biochemical basis of its clinical application and the examination technique. The principles of the selection of drug therapy with possible complications, the need for an adequate assessment of its effectiveness are described. If it is impossible to achieve a stable target euglycemia without the need for intravenous glucose infusion, surgical correction of the disease is indicated. In schematic drawings and intraoperative photographs, approaches to surgical treatment are described, the stages of operations and possible complications are clearly disassembled. The results of surgical interventions at the N.N. V.A. Almazov for 01.2017–02.2021, where 39 children with congenital hyperinsulinism were operated on. According to PET/CT with 18F-DOPA, 15 diffuse and 24 focal forms were diagnosed. After surgery, in 12 (31%) patients, a diffuse lesion of the gland was confirmed, in 23 (59%) – a focal nature of the lesion, in 4 (10%) – an atypical form was diagnosed intraoperatively. Of 39 children, 36 (92%) have complete relief of hyperinsulinism, a significant improvement in psychomotor development, of which 9 (23%) need insulin replacement therapy with minimal dosages, these are 8 children with a diffuse form of the disease and 1 child with an atypical one. Intraand postoperative complications were not observed. Thus, partial pancreatectomy for focal forms, subtotal for atypical and near total for diffuse forms, can cope with hypoglycemia due to congenital hyperinsulinism and prevent damage to the central nervous system of newborns and infants.

scholarly journals SURGICAL TREATMENT OF FOCAL FORMS OF CONGENITAL HYPERINSULINISM: IS ALL CLEAR?

2020 ◽  
Vol 23 (6) ◽  
pp. 296-302
Author(s):  
Anna A. Sukhotskaya ◽  
V. G. Bairov ◽  
I. L. Nikitina ◽  
D. V. Ryzhkova ◽  
L. B. Mitrofanova ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Motor Development ◽  
Complete Recovery ◽  
Psychomotor Development ◽  
Research Centre ◽  
Complete Relief ◽  
Positive Trend ◽  
Congenital Hyperinsulinism ◽  
Focal Lesions ◽  
Partial Pancreatectomy

Introduction. 30-60% of all patients with congenital hyperinsulinism have a delayed psychomotor development, and 15-25% of them have severe organic brain damage, including epilepsy. Timely diagnostics and intensive treatment can prevent severe neurological complications. With the ineffectiveness of conservative therapy, surgical treatment is a necessary alternative. Objective. To define indications for various options of surgical correction of focal forms of congenital hyperinsulinism. Material and Methods. In the Department of Pediatric Surgery of V.A. Almazova National Medical Research Centre, in 2017-03.2019, 14 children with focal forms of congenital hyperinsulinism were operated after analyzing their PET-CT findings; in 2 patients out of them they were doubtful. Results. 13 (93%) patients had a complete relief of hyperinsulinism and a significant improvement in their psycho-motor development. 10 (71%) of 14 children had a complete recovery; 1 (7%) - a significant positive trend. 3 (21%) patients needed insulin therapy with minimal dosages. They all were children with an atypical (mixed adenomatous-diffuse) form of hyperinsulinism. Conclusions. In case of focal lesions in the pancreas, partial pancreatectomy with maximal preservation of healthy tissue, defined by the express biopsy, and with any lesion localization is indicated. For atypical forms, the volume for pancreatectomy dissection is defined individually.

scholarly journals SURGICAL TREATMENT OF ATIPICAL FORMS OF CONGENITAL HYPERINSULINISM

2020 ◽  
Vol 24 (2) ◽  
pp. 83-88
Author(s):  
A. A. Sukhotskaya ◽  
V. G. Bairov ◽  
L. B. Mitrofanova ◽  
D. V. Ryzhkova ◽  
I. L. Nikitina ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Motor Development ◽  
Medical Center ◽  
Neurological Complications ◽  
Psychomotor Development ◽  
Complete Relief ◽  
Congenital Hyperinsulinism ◽  
National Medical ◽  
Pet Ct ◽  
Organic Brain

Introduction. 30-60% of all patients with congenital hyperinsulinism have a delayed psychomotor development, and 15-25% of them have a severe organic brain damage, including epilepsy. The timely diagnostics and intensive care can prevent severe neurological complications. If the conservative therapy is not effective, then the surgical treatment is a need. Objective: To demonstrate features of surgical correction of atypical forms of congenital hyperinsulinism. Material and methods. 11 children with atypical forms of congenital hyperinsulinism were operated on in the department of pediatric surgery in the V.A. Almazov National Medical Center in 2017-03.2019. Results. 2 children demonstrated a complete relief of hyperinsulinism in 9 months (1.5 years) of follow-up; one patient had a significant improvement of his psycho-motor development. Conclusion. Some children with presumably focal forms of hyperinsulinism, by PET-CT findings, may have histologically atypical forms. In the atypical lesion of the pancreas, an intraoperative biopsy dramatically changes the planned volume of pancreatectomy up to almost total removal of the gland.

scholarly journals Dependence of pancreas resection volume on PET-tomography and express biopsy findings

2021 ◽  
Vol 25 (1) ◽  
pp. 11-18
Author(s):  
A. A. Sukhotskaya ◽  
V. G. Bairov ◽  
A. A. Perminova ◽  
L. B. Mitrofanova ◽  
I. L. Nikitina ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Imaging Techniques ◽  
Research Centre ◽  
Differential Diagnostics ◽  
Subtotal Resection ◽  
Congenital Hyperinsulinism ◽  
Partial Pancreatectomy ◽  
Pet Ct ◽  
Diffuse Form ◽  
Group 2

Introduction. Recently, achievements in molecular genetics, imaging techniques (PET/CT), medicamentous therapy as well as in surgical treatment have promoted a better control of hypoglycemia and, consequently, better outcomes in children with congenital hyperinsulinism.Purpose. To specify indications, volume and outcomes of surgical treatment in patients with congenital hyperinsulinism depending on pathology form, differential diagnostics with PET / CT and intraoperative express biopsy.Material and methods. 41 children with congenital hyperinsulinism were operated in the department of pediatric surgery in Almazov National Medical Research Centre (Saint-Petersburg) during 2011 – September 2020. In Group 1, there were 6 children who had standard treatment with subtotal resection of the pancreas (95%). In Group 2, there were 35 patients who had PET tomography with 18-F-DOPA before surgery and intraoperative express biopsy of pancreas tissue. The analyzed patients were operated on in 2017-September 2020. PET tomography with 18-F-DOPA findings revealed that these children had 10 diffuse forms and 22 focal forms; the other 3 children had a disputable picture.Results. After surgery, diffuse form was confirmed in 10 (29%) children; focal form - in 21 (60%) children; 4 (11%) patients had the atypical form which was diagnosed intraoperatively. Of 35 children from Group 2, 33 (94%) had complete hyperinsulinism reversal, significant improvement in their psycho-motor function; however, 10 (29%) of them require insulin replacement therapy with minimal dosages - 8 children with the diffuse form of hyperinsulinism and 2 children with the atypical one. There were no intra- and postoperative complications. 20 (95%) out of 21 children with focal forms recovered completely. The authors also describe problems and peculiarities of urgent histological examination.Conclusion. Thus, partial pancreatectomy in focal forms, subtotal in atypical ones and almost total in diffuse forms allows to cope with hypoglycemia caused by congenital hyperinsulinism.

scholarly journals SURGICAL TREATMENT OF THE CONGENITAL HYPERINSULINISM: A PRELIMINARY ANALYSIS

2019 ◽  
Vol 23 (3) ◽  
pp. 124-127
Author(s):  
Anna A. Sukhotskaya ◽  
V. G. Bairov ◽  
I. L. Nikitina ◽  
D. V. Ryzhkova ◽  
L. B. Mitrofanova ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Pediatric Surgery ◽  
Preliminary Analysis ◽  
Imaging Techniques ◽  
Complete Recovery ◽  
Congenital Hyperinsulinism ◽  
Partial Pancreatectomy ◽  
Pet Ct ◽  
The Central Nervous System ◽  
Diffuse Form

Introduction. Advances in molecular genetics, imaging techniques (PET/CT), medicamentous therapy and surgical treatment in the recent decades have improved hypoglycemia control and , thus, improved treatment outcomes in children with congenital hyperinsulinism. Purpose. To define indications for different techniques of surgical correction in patients with congenital hyperinsulinism depending on the disease form. Material and methods. 23 children were operated on for congenital hyperinsulinism in the department of pediatric surgery in the Almazov Medical Research Center from 2011 till 2018. In 2011-2016, 5 children were operated on by the standard approach which included subtotal pancreas resection (95%). Since 2017, PET tomography with 18-F-DOPA and intraoperative rapid biopsy of the pancreas have been introduced into the curative algorithm. In 2017-2018, 18 children were operated: 6 patients with the diffuse form and 10 - with the focal one. Two more children had controversial outcomes. Results. Fifteen children (83%) had complete hyperinsulinism control and significant improvement in their psycho-motor function. Out of 18 children, 10 (56%) had a complete recovery: among them - 8 (89%) out of 9 children with the focal form of hyperinsulinism and 2 (22%) out of 9 children with the diffuse form. Two children (11%) had a marked positive dynamics. Six patients (33%) needed insulin therapy with minimal dosages - all were children with the diffuse form of hyperinsulinism (6 (67% ) out of 9). Conclusion. Partial pancreatectomy in patients with focal forms or subtotal pancreatectomy in patients with diffuse and atypical forms allow to eliminate hypoglycemia caused by the congenital hyperinsulinism and to prevent damage to the central nervous system in newborns and infants.

scholarly journals Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism

2013 ◽  
Vol 2013 ◽  
Author(s):  
Suresh Chandran ◽  
Fabian Yap Kok Peng ◽  
Victor Samuel Rajadurai ◽  
Yap Te Lu ◽  
Kenneth T E Chang ◽  
...  
Keyword(s):  
Ct Scan ◽  
Severe Hypoglycaemia ◽  
Congenital Hyperinsulinism ◽  
List Type ◽  
Focal Lesions ◽  
Hyperinsulinaemic Hypoglycaemia ◽  
Partial Pancreatectomy ◽  
Diffuse Disease ◽  
Pet Ct ◽  
Pet Ct Scan

Summary background: Congenital hyperinsulinism (CHI) is a rare genetic disorder characterised by inappropriate insulin secretion in the face of severe hypoglycaemia. There are two histological subtypes of CHI namely diffuse and focal. Diffuse CHI is most common due to recessive mutations in ABCC8/KCNJ11 (which encode the SUR/KIR6.2 components of the pancreatic β-cell KATP channel) whereas focal CHI is due to a paternally inherited ABCC8/KCNJ11 mutation and somatic loss of heterozygosity for the 11p allele inside the focal lesion. Fluorine-18-l-dihydroxyphenylalanine positron emission tomography/computed tomography (18F-DOPA-PET/CT) is used in the pre-operative localisation of focal lesions prior to surgery. Diffuse CHI if medically unresponsive will require a near total pancreatectomy whereas focal CHI will only require a limited lesionectomy, thus curing the patient from the hypoglycaemia. Aims: To report the first case of genetically confirmed CHI in Singapore from a heterozygous paternally inherited ABCC8 mutation. Methods/Results: A term male infant presented with severe hyperinsulinaemic hypoglycaemia (HH) after birth and failed medical treatment with diazoxide and octreotide. Genetic testing (paternally inherited mutation in ABCC8/p.D1472N) suggested focal disease, but due to the unavailability of 18F-DOPA-PET/CT to confirm focal disease, a partial pancreatectomy was performed. Interestingly, histology of the resected pancreatic tissue showed changes typical of diffuse disease. Conclusion: Heterozygous paternally inherited ABCC8/KCNJ11 mutations can lead to diffuse or focal CHI. Learning points HH is a cause of severe hypoglycaemia in the newborn period. Paternal mutations in ABCC8/KCNJ11 can lead to diffuse or focal disease. 18F-DOPA-PET/CT scan is the current imaging of choice for localising focal lesions. Gallium-68 tetra-aza-cyclododecane-N N′N″N-‴-tetra-acetate octreotate PET scan is not a useful imaging tool for localising focal lesions. The molecular mechanism by which a heterozygous ABCC8 mutation leads to diffuse disease is currently unclear. Focal lesions are curable by lesionectomy and so genetic studies in patients with HH must be followed by imaging using 18F-DOPA-PET/CT scan.

scholarly journals Laparoscopic resections of the pancreas in children with hyperinsulinism

2021 ◽  
Vol 24 (6) ◽  
pp. 363-369 ◽  
Author(s):  
Yu. Yu. Sokolov ◽  
M. A. Melikyan ◽  
A. M. Efremenkov ◽  
D. N. Gubaeva ◽  
V. R. Druzhinin ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Professional Education ◽  
Intraoperative Complications ◽  
Rapid Development ◽  
Pancreatic Head ◽  
Research Centre ◽  
Somatostatin Analogue ◽  
Congenital Hyperinsulinism ◽  
Inherited Disease ◽  
Distal Common Bile Duct

Introduction. Congenital hyperinsulinism (CHI) is an inherited disease characterized by severe persistent hypoglycemia in the neonatal period due to insulin hypersecretion and rapid development of neurologic and systemic disorders. There are two main CHI forms: a diffuse one when hyper functioning of beta-cells affect the whole pancreas, and a focal one, characterized by an area of intact parenchyma. Currently, surgery is an acknowledged approach in focal forms, while in diffuse CHI forms surgical treatment is prescribed only in severe pharmacoresistant cases.Material and methods. A total of 11 patents with CHI, aged 1.5 - 26 months, had laparoscopic pancreatic resections at the department of pediatric surgery of Russian Medical Academy of Continuous Professional Education. All patients were examined , treated and prepared for surgery at the Endocrinology Research Centre ( Moscow). The focal CHI form was diagnosed in 3 children; the diffuse one - in 8 patients. In the focal CHI form, a focal resection was done: laparoscopic corpocaudal resection of the pancreas – 2 patients; resection of the pancreatic head with Roux–en-Y pancreaticojejunostomosis - 1 child. All children with diffused disease had laparoscopic near-total (98%) pancreatectomy.Results. In all cases, there were no intraoperative complications. Stenosis of the distal common bile duct developed in one child after the resection of pancreatic head which required a laparoscopic cholecystoduodenoanastomosis. There were no other complications. Two children with focal CHI were reported to recover completely; one patient suffered of hypoglycemia attacks not related to the increased insulin production. In diffuse cases, a stable euglycemia was achieved in 2 patients; 3 children had recurrent hypoglycemia attacks which required Somatostatin analogue therapy. One patient developed diabetes mellitus. In this case, follow-up period lasted for 2 months which is too short to assess the endocrinological outcome.Conclusion. The article presents the first Russian experience of laparoscopic pancreas resection in children with CHI. The laparoscopic approachcan be successfully applied in the surgical treatment of children with CHI.

A Case Report on Congenital Hyperinsulinism

2020 ◽  
Vol 34 (3) ◽  
pp. 170-171
Author(s):  
Sandip Pagdar ◽  
Kunj Jobanputra ◽  
Mohit Sahni
Keyword(s):  
Case Report ◽  
Surgical Treatment ◽  
Genetic Study ◽  
Homozygous Deletion ◽  
Congenital Hyperinsulinism ◽  
Heterozygous Deletion ◽  
Partial Pancreatectomy ◽  
Initial Management ◽  
Abcc8 Gene ◽  
Gene Study

Introduction: Congenital hyperinsulinism (CH) is the most common reason for persistent hypoglycemia in neonates. Insulin levels increased inappropriately in the presence of hypoglycemia. Initial management is nonsurgical, but if it fails then partial pancreatectomy is done, which is a surgical procedure. Objective: To report newborn with CH and update medical and/or surgical treatment. Case report: It is reporting of a term newborn with severe symptomatic hypoglycemia not responding to medical treatment. Gene study was done—ABCC8 gene has been identified as homozygous deletion of exon 13 and parents ger08Y—showing heterozygous deletion of exon 13. Genetic study was consistent with focal CH. Discussion: This report presents diagnosis and clinical features of CH.

scholarly journals Continuous subcutaneous infusion of somatostatin analogues in the treatment of congenital hyperinsulinism

2020 ◽  
Vol 66 (3) ◽  
pp. 81-87
Author(s):  
Maria A. Melikyan ◽  
Diliara N. Gubaeva ◽  
Maria A. Kareva
Keyword(s):  
Quality Of Life ◽  
Pediatric Patients ◽  
Research Centre ◽  
Infusion Therapy ◽  
Congenital Hyperinsulinism ◽  
Intravenous Glucose ◽  
Subcutaneous Infusion ◽  
Number Of Patients ◽  
Continuous Subcutaneous Infusion

BACKGROUND: Congenital hyperinsulinism (CHI) is a severe disease with a high risk of development of neurological complications due to persistent hypoglycemia. The use of an analog of somatostatin (octreotide) in patients with the resistance to the first-line drug allows to avoid surgical intervention. However, the octreotide is currently used in the form of frequent fractional injections due to the short duration of its effect. We present in this article our own experience of using octreotide in continuous subcutaneous infusion in pediatric patients in order to improve the quality of life. AIM To evaluate the efficiency and safety of the regime of continuous subcutaneous infusion of octreotide with the use of micro-dispensers (pumps) in children with diazoxide-resistant course of CHI. MATERIALS AND METHODS: An observational single-centre dynamic research was carried out on the basis of the Federal State Budgetary Institution Endocrinology Research Centre of the Ministry of Health of the Russian Federation. The study included pediatric patients with CHI and proven diazoxide-resistant course who were initially treated with octreotide in the form of intermittent subcutaneous injections. The researches compared the indicants of efficiency and safety of therapy on treatment of intermittent injections and after transfer to continuous subcutaneous infusion of the drug. The duration of each method of administration was at least 2 weeks. RESULTS: 16 patients took part in the research. The median for the total duration of octreotide usage in the examined patients was 3 months. According to the results of the work, the use of micro-dispensers for continuous subcutaneous administration of octreotide allowed to reduce the number of patients with episodes of hypoglycemia for more than 4 times (13/16 vs. 3/16); p=0,001). Also, there was a significant decrease in the number of patients with hyperglycemic episodes (4/16 vs. 0/16); p=0.000) and reduced dose of intravenous glucose (6.8 vs 5.2 mg/kg/min; p=0.042) as a result of continuous therapy, which indicates the advantages of smooth continuous administration comparing to single injections. We have not detected any significant side effects of the treatment. Elevated liver enzyme levels, dyspeptic symptoms and gallstone formation in some patients did not require cancellation of therapy. There were no hormonal disorders in the form of hypothyroidism and somatotropic hormone deficiency against the background of continuous octreotide infusion. CONCLUSIONS: Thus, the use of octreotide in patients with diazoxide-resistant course of СHI in continuous subcutaneous infusion using pumps has a number of advantages over the standard method of intermittent subcutaneous injection. This method of administration allows to achieve better glycemic control and reduce the risks from infusion therapy with highly concentrated glucose solutions, which undoubtedly improves the quality of life of patients.

FDG-PET/CT Assessment of Pulmonary Sarcoidosis: A Guide for Internists

2018 ◽  
Vol 15 (1) ◽  
pp. 21-25 ◽  
Author(s):  
Marco Tana ◽  
Silvio di Carlo ◽  
Marcello Romano ◽  
Massimo Alessandri ◽  
Cosima Schiavone ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Fdg Pet ◽  
Correct Diagnosis ◽  
Pulmonary Sarcoidosis ◽  
High Resolution Computed Tomography ◽  
Inflammatory Conditions ◽  
Positron Emission ◽  
Pet Ct ◽  
Noncaseating Granulomas ◽  
Fdg Pet Ct

Background:18F-fluorodeoxyglucose positron emission tomography integrated with computed tomography (18-F-FDG-PET/CT) is getting wide consensus in the diagnosis and staging of neoplastic disorders and represents a useful tool in the assessment of various inflammatory conditions. </P><P> Discussion: Sarcoidosis is an uncommon disease characterized by the systemic formation of noncaseating granulomas. Lungs are the sites most often affected, and investigation with high resolution computed tomography and biopsy is essential to achieve a correct diagnosis. 18-F-FDGPET/ CT is effective in the assessment of pulmonary sarcoidosis by demonstrating pulmonary and extrathoracic involvement and findings correlate well with pulmonary function in patients affected.Conclusion:This review would illustrate the usefulness and limits of 18-F-FDG-PET/CT in the assessment of pulmonary sarcoidosis.

scholarly journals Molecular Imaging with 18F-FDG PET/CT and 99mTc-MIBI SPECT/CT in Osteitis Fibrosa Cystica Generalisata

Diagnostics ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 1355
Author(s):  
Adrien Holzgreve ◽  
Matthias P. Fabritius ◽  
Thomas Knösel ◽  
Lena M. Mittlmeier ◽  
Johannes Rübenthaler ◽  
...  
Keyword(s):  
Molecular Imaging ◽  
Fdg Pet ◽  
Correct Diagnosis ◽  
Osteitis Fibrosa ◽  
Osteitis Fibrosa Cystica ◽  
Pet Ct ◽  
Brown Tumors ◽  
18F Fdg ◽  
99Mtc Mibi ◽  
Fdg Pet Ct

Benign so-called “brown tumors” secondary to hyperparathyroidism are a rare diagnostic pitfall due to their impressively malignant-like character in various imaging modalities. We present the case of a 65-year-old male patient with multiple unclear osteolytic lesions on prior imaging suspicious for metastatic malignant disease. Eventually, findings of 18F-FDG PET/CT staging and 99mTc-MIBI scintigraphy resulted in revision of the initially suspected malignant diagnosis. This case illustrates how molecular imaging findings non-invasively corroborate the correct diagnosis of osteitis fibrosa cystica generalisata with the formation of multiple benign brown tumors.

Sign in / Sign up

Export Citation Format

Share Document