Diagnostic Errors ; Humans ; Male ; Multiple Endocrine Neoplasia Type 2a/diagnosis* ; Myocarditis/diagnosis*

PURPOSE: The aim of this study was to review the common conditions associated with mandibular canal widening. MATERIALS AND METHODS: General search engines and specialized databases including Google Scholar, PubMed, PubMed Central, Science Direct, and Scopus were used to find relevant studies by using the following keywords: “mandibular canal,” “alveolar canal,” “inferior alveolar nerve canal,” “inferior dental canal,” “inferior mandibular canal,” “widening,” “enlargement,” “distension,” “expansion,” and “dilation.” RESULTS: In total, 130 articles were found, of which 80 were broadly relevant to the topic. We ultimately included 38 articles that were closely related to the topic of interest. When the data were compiled, the following 7 lesions were found to have a relationship with mandibular canal widening: non-Hodgkin lymphoma, osteosarcoma, schwannoma, neurofibroma, vascular malformation/hemangioma, multiple endocrine neoplasia syndromes, and perineural spreading or invasion. CONCLUSION: When clinicians encounter a lesion associated with mandibular canal widening, they should immediately consider these entities in the differential diagnosis. Doing so will help dentists make more accurate diagnoses and develop better treatment plans based on patients' radiographs.
Dentists ; Diagnosis ; Diagnosis, Differential ; Humans ; Lymphoma, Non-Hodgkin ; Mandibular Nerve ; Multiple Endocrine Neoplasia ; Neurilemmoma ; Neurofibroma ; Odontogenic Cysts ; Odontogenic Tumors ; Osteosarcoma ; Search Engine

A 9-year-old boy presented with increased sweating and abdominal pain. His mother and uncle had been diagnosed with bilateral pheochromocytoma and medullary thyroid carcinoma. Magnetic resonance imaging of the boy's abdomen revealed a 7.5 cm×7.0 cm×6.0 cm mass with a thick peripheral enhancing wall and fluid-fluid level at the right suprarenal region. His ¹²³I-meta-iodobenzylguanidine (MIBG) scan showed a large mass with increased MIBG uptake in the right adrenal gland. The levels of serum norepinephrine, urine epinephrine/norepinephrine, metanephrine, and vanillylmandelic acid were elevated. He, his mother, and two sisters tested positive for the known mutation of multiple endocrine neoplasia type 2A, Cys634Tyr in RET proto-oncogene. Laparoscopic tumor excision and right adrenalectomy were performed. Final diagnosis was pheochromocytoma with malignant behavior, based on adrenal gland scoring scale. However, there was no overt metastasis. After surgery, his symptoms resolved and abnormal laboratory tests were normalized.
3-Iodobenzylguanidine ; Abdomen ; Abdominal Pain ; Adrenal Glands ; Adrenalectomy ; Child ; Diagnosis ; Humans ; Magnetic Resonance Imaging ; Male ; Metanephrine ; Mothers ; Multiple Endocrine Neoplasia Type 2a ; Multiple Endocrine Neoplasia ; Neoplasm Metastasis ; Norepinephrine ; Pheochromocytoma ; Proto-Oncogenes ; Siblings ; Sweat ; Sweating ; Thyroid Neoplasms ; Vanilmandelic Acid

The primary causes of uncontrolled diabetes are poor life-style, infection, ischemic heart disease and inappropriate usage of oral anti-diabetic agents and insulin. Supplementary causes are stroke, acute pancreatitis and endocrine diseases. Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant syndrome characterized by primary hyperparathyroidism, pituitary neoplasia, and foregut lineage neuroendocrine tumors, and is associated with increased glucose levels. We present a case of a 69-year-old woman who had polyuria, polydipsia, weight loss and hyperglycemia over 6 months. She had hypertrophy of the face, hand, and foot, and active bleeding and large folds were observed in the stomach and duodenum upon esophagogastroduodenoscopy. She also had high levels of IGF-1 and gastrin and got the failure of growth hormone suppression after an oral glucose load (75 g). These findings suggested a diagnosis of acromegaly and gastrinoma, which was clinically diagnosed along with MEN 1. The patient improved glycemic control and symptoms after being treated with somatostatin analogues and insulin therapy over a 5-month follow-up period. Here, we report a case of MEN 1 in type 2 diabetes mellitus with a poorly controlled blood glucose level. Clinicians should consider endocrine disease in patients with poor glycemic control in diabetes.
Acromegaly ; Aged ; Blood Glucose ; Diabetes Mellitus* ; Diabetes Mellitus, Type 2 ; Diagnosis ; Duodenum ; Endocrine System Diseases ; Endoscopy, Digestive System ; Female ; Follow-Up Studies ; Foot ; Gastrinoma ; Gastrins ; Glucose ; Growth Hormone ; Hand ; Hemorrhage ; Humans ; Hyperglycemia ; Hyperparathyroidism, Primary ; Hypertrophy ; Insulin ; Insulin-Like Growth Factor I ; Multiple Endocrine Neoplasia Type 1* ; Multiple Endocrine Neoplasia* ; Myocardial Ischemia ; Neuroendocrine Tumors ; Pancreatitis ; Polydipsia ; Polyuria ; Somatostatin ; Stomach ; Stroke ; Weight Loss

Multiple endocrine neoplasia type 2B (MEN 2B) is an autosomal dominant disorder characterized by medullary thyroid cancer, pheochromocytoma, neuroma and Marfanoid feature. Medullary thyroid cancer occurs in more than 95% patients of MEN 2B and increases mortality. So, the early diagnosis of multiple endocrine neoplasia is very important, because in the early diagnosed and treated medullary thyroid cancer, the prognosis is excellent. This is a case of multiple endocrine neoplasia type 2B that diagnosed early by conjunctival neuroma. A 15-year-old female patient was presented with both conjunctival masses that occurred 6 months ago. The excisional biopsy revealed conjunctival neuroma. The multiple endocrine tumor was suspected, further evaluation was performed. Medullary thyroid cancer was confirmed by thyroid ultrasound and fine needle aspiration. Finally, MEN type 2B was confirmed by a RET mutation genetic testing.
Adolescent ; Biopsy ; Biopsy, Fine-Needle ; Early Diagnosis ; Female ; Genetic Testing ; Humans ; Male ; Mortality ; Multiple Endocrine Neoplasia Type 2b* ; Multiple Endocrine Neoplasia* ; Neuroma* ; Pheochromocytoma ; Prognosis ; Thyroid Gland ; Thyroid Neoplasms ; Ultrasonography

Osteoporosis has been defined as a disease characterized by low bone mass and microarchitectural deterioration of bone tissue, leading to enhanced bone fragility and a consequent increase in fracture risk. The World Health Organization's standard criterion for the diagnosis of osteoporosis in postmenopausal women and older men is a T-score of ≤-2.5 at the lumbar spine, femur neck, or total hip by bone mineral density measured by dual energy X-ray absorptiometry. To diagnose osteoporosis, quantitative computed tomography, and ultrasound can be used. In this article, we will discuss the methods of diagnosing osteoporosis including imaging techniques and serum turnover markers and the indications of osteoporosis.
Absorptiometry, Photon ; Bone and Bones ; Bone Density ; Diagnosis* ; Female ; Femur Neck ; Global Health ; Hip ; Humans ; Multiple Endocrine Neoplasia Type 1 ; Osteoporosis* ; Spine ; Ultrasonography

Multiple endocrine neoplasia (MEN) mutation is an autosomal dominant disorder characterized by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumors. The incidence of insulinoma in MEN is relatively uncommon, and there have been a few cases of MEN manifested with insulinoma as the first symptom in children. We experienced a 9-year-old girl having a familial MEN1 mutation. She complained of dizziness, occasional palpitation, weakness, hunger, sweating, and generalized tonic-clonic seizure that lasted for 5 minutes early in the morning. At first, she was only diagnosed with insulinoma by abdominal magnetic resonance images of a 1.3 × 1.5 cm mass in the pancreas and high insulin levels in blood of the hepatic vein, but after her father was diagnosed with MEN1. We found she had familial MEN1 mutation, and she recovered hyperinsulinemic hypoglycemia after enucleation of the mass. Therefore, the early genetic identification of MEN1 mutation is considerable for children with at least one manifestation.
Alleles ; Base Sequence ; Child ; DNA Mutational Analysis ; Female ; Humans ; Hypoglycemia/diagnosis ; Insulin/blood ; Insulinoma/diagnostic imaging/*pathology ; Magnetic Resonance Imaging ; Multiple Endocrine Neoplasia Type 1/*diagnosis/pathology ; Pancreatic Neoplasms/diagnostic imaging/*pathology ; Pedigree ; Polymorphism, Single Nucleotide ; Proto-Oncogene Proteins/genetics ; Seizures/complications

Multiple endocrine neoplasia type 1 is an autosomal dominant disease caused by the MEN1 germline mutation. A 25-year-old male was admitted for loss of consciousness. Initial laboratory data showed hypoglycemia and hypercalcemia. The image study showed two insulinoma in the pancreas head and body. MIBI scan was positive in the left lower parathyroid gland. After diagnosis of insulinoma and hyperparathyroidism, MEN1 was suspected, but there was no family history of endocrine disease. Enucleation of the insulinoma in the pancreatic head and body was performed. After the operation, the blood sugar level was normalized and no hypoglycemic symptoms were observed. Testing of germline mutations of the MEN1 gene was performed by direct DNA sequence analysis after obtaining informed consent. In the genetic study, a frameshift mutation was found in exon 2 which deleted 16 nucleic acids (c.326_341del16) and resulted in a truncation at codon 113. This mutation was not reported previously. We found a novel and de novo mutation of the MEN1 gene. Genetic study is necessary in case of young-age, multiple endocrine tumors.
Adult ; Blood Glucose ; Codon ; Diagnosis ; Endocrine System Diseases ; Exons ; Frameshift Mutation ; Germ-Line Mutation* ; Head ; Humans ; Hypercalcemia ; Hyperparathyroidism* ; Hypoglycemia ; Informed Consent ; Insulinoma* ; Male ; Multiple Endocrine Neoplasia Type 1* ; Nucleic Acids ; Pancreas ; Parathyroid Glands ; Sequence Analysis, DNA ; Unconsciousness

PURPOSE: To report a case of multiple endocrine neoplasia type 2B (MEN 2B) diagnosed early based on conjunctival neuroma. CASE SUMMARY: A 15-year-old female presented with red eye and conjunctival mass in both eyes. A 5 x 5 mm-sized yellowish conjunctival mass adjacent to the limbus was observed in her right eye and a 3 x 3 mm-sized mass in her left eye. Excisional biopsy was performed and the patient was diagnosed with conjunctival neuroma. Other abnormalities were not found on the ophthalmic examination, but she had characteristic appearances such as thickened upper eyelid, mild telecanthus and nodular edematous upper lip. She was transferred to the Endocrinology Department for systemic evaluation in consideration of multiple endocrine neoplasia. Abdominal pelvic computed tomography and a 24-hr urine collection analysis showed asymptomatic pheochromocytoma. Thyroid ultrasonography and fine-needle biopsy revealed medullary thyroid carcinoma. Finally, MEN type 2B was confirmed by using a RET mutation gene test. CONCLUSIONS: Thyroid carcinoma can occur in MEN 2B in combination with pheochromocytoma and mucosal neuroma. Thickened corneal nerve fiber and perilimbal conjunctival mass have been regarded as ophthalmologic characteristics of MEN 2B and may be accompanied by telecanthus, thickened upper eyelid and marfanoid habitus. A biopsy of the mass is required for pathological diagnosis. Medullary thyroid carcinoma is the most significant clinical component of MEN 2B syndrome and thyroidectomy is indicated. MEN 2B may be a rare syndrome, but its consequences are serious and the ophthalmologist may play a lifesaving role in its diagnosis.
Adolescent ; Biopsy ; Biopsy, Fine-Needle ; Diagnosis ; Early Diagnosis* ; Endocrinology ; Eyelids ; Female ; Humans ; Lip ; Male ; Multiple Endocrine Neoplasia ; Multiple Endocrine Neoplasia Type 2b* ; Nerve Fibers ; Neuroma* ; Pheochromocytoma ; Thyroid Gland ; Thyroid Neoplasms ; Thyroidectomy ; Ultrasonography ; Urine Specimen Collection

BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited disorder characterized by the simultaneous occurrence of endocrine tumors in target tissues (mainly the pituitary, endocrine pancreas, and parathyroid glands). MEN1 is caused by mutations in the MEN1 gene, which functions as a tumor suppressor and consists of one untranslated exon and nine exons encoding the menin protein. This condition is usually suspected when we encounter patients diagnosed with tumors in multiple endocrine organs, as mentioned above. METHODS: A 65-year-old woman who underwent surgery for a pancreatic tumor (serous cystadenoma) 5 years previously was referred to our hospital due to neurologic symptoms of diplopia and left ptosis. Brain magnetic resonance imaging revealed a 3.4-cm lesion originating from the cavernous sinus wall and extending into the sellar region. It was thought to be a nonfunctioning tumor from the results of the combined pituitary function test. Incidentally, we found that she also had a pancreatic tumor, indicating the necessity of genetic analysis for MEN1. RESULTS: Genomic analysis using peripheral leukocytes revealed a heterozygous c.1621G>A mutation in the MEN1 gene that was previously reported to be either a pathogenic mutation or a simple polymorphism. We pursued a stereotactic approach to the pituitary lesion, and microscopic findings of the tumor revealed it to be an intrasellar cavernous hemangioma, a rare finding in the sellar region and even rarer in relation to oculomotor palsy. The patient recovered well from surgery, but refused further evaluation for the pancreatic lesion. CONCLUSION: There is great emphasis placed on genetic testing in the diagnosis of MEN1, but herein we report a case where it did not assist in diagnosis, hence, further discussion on the role of genetic testing in this disease is needed. Also, in cases of pituitary tumor with cranial nerve palsy, despite its low prevalence, intrasellar cavernous hemangioma could be suspected.
Aged ; Brain ; Cavernous Sinus ; Cranial Nerve Diseases ; Diagnosis ; Diagnostic Errors* ; Diplopia ; Exons ; Female ; Genetic Testing ; Hemangioma, Cavernous* ; Humans ; Islets of Langerhans ; Leukocytes ; Magnetic Resonance Imaging ; Multiple Endocrine Neoplasia Type 1* ; Neurologic Manifestations ; Paralysis ; Pituitary Function Tests ; Pituitary Neoplasms ; Prevalence