Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Doris Taha ◽  
Amita Adhikari ◽  
Leigh Anne Flore
Keyword(s):  
Neonatal Period ◽  
Thyroid Stimulating Hormone ◽  
African American Female ◽  
Free Triiodothyronine ◽  
Rare Form ◽  
Case Presentation ◽  
First Case ◽  
History Of ◽  
New Association ◽  
Tshr Gene

AbstractObjectivesActivating germline mutations of the thyroid-stimulating hormone receptor (TSHR) are responsible for a rare form of neonatal nonautoimmune hyperthyroidism (NAH). We report the first case of familial neonatal neonatal nonautoimmune associated with c.1856A>G (p.Asp619Gly) variant in the TSHR gene.Case presentationWe describe an eight-year-old African-American female presenting with neonatal NAH associated with an inherited heterozygous c.1856A>G (p.Asp619Gly) variant in the TSHR gene. This variant was previously described in one patient presenting with sporadic NAH in adolescence. Our patient was diagnosed with hyperthyroidism in the neonatal period. The mother had a history of hyperthyroidism and had thyroidectomy at the age of 4 years. The patient had goiter and elevated free thyroxine (FT4) and free triiodothyronine (FT3) levels that normalized with methimazole treatment; however, TSH level remained suppressed. Thyroid antibodies were negative. The patient also had bilateral exotropia, a trait shared by the mother and may represent a new association.ConclusionsFamilial neonatal NAH is associated with heterozygous c.1856A>G (p.Asp619Gly) variant of the TSHR gene.

scholarly journals Subacute Thyroiditis Presenting as Idiopathic Intracranial Hypertension

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Kanyanatt Boonyatarp ◽  
Kanoksri Samintharapanya ◽  
Thanawat Vongchaiudomchoke ◽  
Nuttaya Wachiraphansakul
Keyword(s):  
Intracranial Hypertension ◽  
Idiopathic Intracranial Hypertension ◽  
Case Reports ◽  
Vital Signs ◽  
Thyroid Stimulating Hormone ◽  
Subacute Thyroiditis ◽  
Free Triiodothyronine ◽  
Case Presentation ◽  
First Case ◽  
The Brain

Background. Several case reports have illustrated a rare neurological manifestation, idiopathic intracranial hypertension (IIH), in patients with thyrotoxicosis. However, none were diagnosed with thyroiditis. We report the case of a patient with subacute thyroiditis who presented with severe intractable headache due to IIH. Case Presentation. A 36-year-old woman visited Lampang Hospital in February 2021 complaining of neck pain and progressive severe intractable headache. Her vital signs and neurological examination were normal. Thyroid examination revealed a single 1 cm right thyroid nodule. A computed tomography (CT) scan of her brain illustrated diffuse brain edema. However, CT angiography and venography of the brain did not show abnormalities. The opening pressure of the cerebrospinal fluid was elevated (27 cmH2O). The free triiodothyronine level was 6.19 pg/mL, free thyroxine was 2.32 ng/dL, and thyroid-stimulating hormone was 0.0083 μIU/mL. Anti-Tg was positive at a low titer, but anti-TPO was negative. TRAb was also negative. Methimazole and acetazolamide were prescribed and monitored. The symptoms resolved completely within 2 weeks of onset. Thyroid hormones had returned to normal by 8 weeks. Conclusion. This is the first case report of subacute thyroiditis presenting with IIH.

scholarly journals Immediate post partum macular subretinal bleeding in a highly myopic patient: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Karen Bitton ◽  
J.-L. Bacquet ◽  
F. Amoroso ◽  
S. Mrejen ◽  
M. Paques ◽  
...  
Keyword(s):  
Valsalva Maneuver ◽  
Post Partum ◽  
Pathologic Myopia ◽  
Pathological Myopia ◽  
Case Presentation ◽  
Sudden Loss ◽  
Corrected Visual Acuity ◽  
First Case ◽  
History Of ◽  
Macular Hemorrhage

Abstract Background Pathologic myopia is a major cause of visual impairment and blindness. Case presentation We report a case of an immediate post partum macular subretinal bleeding observed in a highly myopic patient. A 30-years-old woman presented two days after childbirth for sudden loss of vision in her right eye. Multimodal imaging showed macular hemorrhage masking a subtle yellowish linear lesion corresponding to lacker crack. Due to the lack of evidence for choroidal neovascularization, a simple clinical and imaging monitoring was recommended. Six weeks later, we noted an improvement in her best-corrected visual acuity and a decreased in size of the macular hemorrhage. Conclusions This is the first case reporting a macular subretinal bleeding on macular lacquer cracks in a highly myopic patient in immediate post partum. Valsalva maneuver associated with vaginal delivery could explain the occurrence of the hemorrhage associated with lacquer crack. However, natural history of pathological myopia could not be excluded.

In iodine-induced thyrotoxicosis, steroid therapy today could keep the surgical knife at bay

2018 ◽  
Vol 31 (5) ◽  
pp. 585-588 ◽  
Author(s):  
Rohan K. Henry ◽  
Monika Chaudhari
Keyword(s):  
Steroid Therapy ◽  
Medical Literature ◽  
Urinary Iodine ◽  
Thyroid Stimulating Hormone ◽  
Thyroid Function Tests ◽  
Case Presentation ◽  
Total Triiodothyronine ◽  
History Of ◽  
Daily Allowance

Abstract Background: Amiodarone-induced thyrotoxicosis (AIT) type 2, characterized as a destructive thyroiditis, is well described in the medical literature; however, iodine-induced thyrotoxicosis (IIT) is not, though the latter has similar features and can be managed similarly. Case presentation: We present a 17-year-old female who presented with a history of an intermittent goiter with thyroid function tests (TFTs): thyroid-stimulating hormone (TSH)<0.015 (0.4–4 μU/mL), free thyroxine (T4)≥6 (0.7–2.1 ng/dL) and total triiodothyronine (T3) 651 (50–200 mg/dL). Thyroid antibodies were all negative. Despite methimazole therapy for 6 weeks, hyperthyroidism proved refractory to medical management. 123I scan uptake was suppressed. With hyperthyroidism being recalcitrant to therapy, a nutritional history revealed consumption of an iodine supplement containing at least 7 times the recommended daily allowance (RDA) for 5 years, contributing to the Jod-Basedow phenomenon. Urinary spot and 24-hour urinary iodine were both elevated. Though a surgical consult was obtained, surgery was cancelled once TFTs improved and then normalized with steroid therapy. The TFTs and urinary iodine levels remained normal post steroid therapy. Conclusions: We suggest that in addition to the need for a thorough nutritional history, a trial of corticosteroids should be utilized in the management of IIT which can present with findings similar to AIT type 2 which is recalcitrant to thionamide therapy. If successful, corticosteroids may delay or prevent surgical management thus avoiding possible complications with the latter approach.

scholarly journals Tocilizumab for massive refractory pleural effusion in an adolescent with systemic lupus erythematosus

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Arianna De Matteis ◽  
Emanuela Sacco ◽  
Camilla Celani ◽  
Andrea Uva ◽  
Virginia Messia ◽  
...  
Keyword(s):  
Pleural Effusion ◽  
Lupus Erythematosus ◽  
High Dose ◽  
Common Symptom ◽  
Systemic Lupus ◽  
Malar Rash ◽  
Case Presentation ◽  
Double Stranded Dna ◽  
First Case ◽  
History Of

Abstract Background Pleural effusion in systemic lupus erythematous (SLE) is a common symptom, and recent studies demonstrated that IL-6 has a pivotal role in its pathogenesis. Case presentation We report a case of a 15 years old Caucasian boy with a history of persistent pleural effusion without lung involvement or fever. Microbiological and neoplastic aetiologies were previously excluded. Based on the presence of pleuritis, malar rash, reduction of C3 and C4 levels and positivity of antinuclear antibody (ANA) and anti-double stranded DNA (dsDNA), the diagnosis of juvenile SLE (JSLE) was performed. Treatment with high dose of intravenous glucocorticoids and mycophenolate mofetil was started with partial improvement of pleural effusion. Based on this and on adults SLE cases with serositis previously reported, therapy with intravenous tocilizumab (800 mg every two weeks) was started with prompt recovery of pleural effusion. Conclusion To the best of our knowledge, this is the first case of JSLE pleuritis successfully treated with tocilizumab.

scholarly journals Probable Hydrochlorothiazide-Induced Myopericarditis: First Case Reported

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Toufik Mahfood Haddad ◽  
Muhammad Sarfraz Nawaz ◽  
Ahmed S. Abuzaid ◽  
Smrithy Upadhyay ◽  
Pallavi Bellamkonda ◽  
...  
Keyword(s):  
Pericardial Effusion ◽  
Past History ◽  
Uncontrolled Hypertension ◽  
African American Female ◽  
Pericardial Disease ◽  
First Case ◽  
Segmental Wall Motion ◽  
Segmental Wall ◽  
History Of ◽  
Artery Disease

Hydrochlorothiazide has never been reported as a reason for myopericarditis. An African American female, with past history of hypertension, coronary artery disease, and sulfa allergy, presented with indolent onset and retrosternal chest pain which was positional, pleuritic, and unresponsive to sublingual nitroglycerin. Her medications included hydrochlorothiazide (HCTZ) which was started three months ago for uncontrolled hypertension. Significant laboratory parameters included erythrocyte sedimentation rate (ESR) of 47 mm/hr and peak troponin of 0.26 ng/mL. Transthoracic echocardiogram (TTE) revealed preserved ejection fraction with no segmental wall motion abnormalities; however, it showed moderate pericardial effusion without tamponade physiology. We hypothesize that this myopericarditis could be due to HCTZ allergic reaction after all other common etiologies have been ruled out. There is a scarcity of the literature regarding HCTZ as an etiology for pericardial disease, with only one case reported as presumed hydrochlorothiazide-induced pericardial effusion. Management involves discontinuation of HCTZ and starting anti-inflammatory therapy.

scholarly journals Neonatal Sacrococcygeal Neuroblastoma Mimicking a Teratoma

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Leticia Gely ◽  
Humberto Lugo-Vicente ◽  
María Correa-Rivas ◽  
Kary Bouet ◽  
Zayhara Reyes Bou ◽  
...  
Keyword(s):  
Puerto Rico ◽  
Physical Examination ◽  
Preoperative Diagnosis ◽  
Neonatal Period ◽  
Newborn Infants ◽  
Stage Iv ◽  
Sacrococcygeal Teratoma ◽  
First Case ◽  
History Of ◽  
Adequate Prenatal Care

We reported the first case of a congenital intrapelvic presacral neuroblastoma in Puerto Rico managed in the early neonatal period. The preoperative diagnosis was a sacrococcygeal teratoma Altman stage IV classification. This case confirms the importance of a comprehensive physical examination and observation of low-risk newborn infants with a history of adequate prenatal care and an unremarkable fetal ultrasonogram during pregnancy.

scholarly journals Spinal subarachnoid haemorrhage secondary to spinal rheumatoid vasculitis: a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yeqing Xiao ◽  
Jie Yang ◽  
Jian Xia ◽  
Yunhai Liu ◽  
Qing Huang ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Central Nervous System ◽  
Subarachnoid Haemorrhage ◽  
Therapeutic Effects ◽  
Rheumatoid Vasculitis ◽  
Low Disease Activity ◽  
Case Presentation ◽  
First Case ◽  
History Of ◽  
The Central Nervous System

Abstract Introduction Spinal subarachnoid haemorrhage is extremely rare in cases of subarachnoid haemorrhage and possesses servere characteristics. Additionally, spinal rheumatoid vasculitis is rare for spinal subarachnoid haemorrhage. The pathogenesis is unknown. Case presentation A 52-year-old woman with a 10-year history of seropositive rheumatoid arthritis was managed with leflunomide and celecoxib, and stable low disease activity was achieved. The patient had also been diagnosed with spinal subarachnoid haemorrhage secondary to isolated spinal rheumatoid vasculitis and obtained good therapeutic effects. Conclusion This is the first case to describe spinal subarachnoid haemorrhage secondary to isolated spinal vasculitis in a patient with rheumatoid arthritis, which provides more proof of anomalous neovascularization in the central nervous system in rheumatoid arthritis.

scholarly journals Subgaleal hematoma evacuation in a pediatric patient: A case report and review of the literature

2020 ◽  
Vol 11 ◽  
pp. 243
Author(s):  
Tye Patchana ◽  
Hammad Ghanchi ◽  
Taha Taka ◽  
Mark Calayag
Keyword(s):  
Pediatric Patients ◽  
Neonatal Period ◽  
Clinical Course ◽  
African American Female ◽  
Review Of The Literature ◽  
Hair Pulling ◽  
Imaging Characteristics ◽  
Subgaleal Hematoma ◽  
History Of

Background: Subgaleal hematoma (SGH) is generally documented within the neonatal period and is rarely reported as a result of trauma or hair braiding in children. While rare, complications of SGH can result in ophthalmoplegia, proptosis, visual deficit, and corneal ulceration secondary to hematoma extension into the orbit. Although conservative treatment is preferential, expanding SGH should be aspirated to reduce complications associated with further expansion. Case Description: A 12-year-old African-American female with no recent history of trauma presented with a chief complaint of headache along with a 2-day history of enlarging 2–3 cm ballotable bilateral frontal mass. Hematological workup was negative. The patient’s family confirmed a long history of hair braiding. The patient was initially prescribed a period of observation but returned 1-week later with enlarging SGH, necessitating surgical aspiration. Conclusion: SGH is rare past the neonatal period, but can be found in pediatric and adolescent patients secondary to trauma or hair pulling. Standard workup includes evaluation of the patient’s hematological profile for bleeding or coagulation deficits, as well as evaluation for child abuse. Although most cases of SGH resolve spontaneously over the course of several weeks, close follow-up is recommended. The authors present a case of a 12-year-old female presenting with enlarging subgaleal hemorrhages who underwent surgical aspiration and drainage without recurrence. A literature review was also conducted with 32 pediatric cases identified, 20 of which were related to hair pulling, combing, or braiding. We review the clinical course, imaging characteristics, surgical management, as well as a review of the literature involving subgaleal hemorrhage in pediatric patients and hair pulling.

scholarly journals Mixed cortico-medullary adrenal carcinoma in children: looks are deceptive!!

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Arti Khatri ◽  
Nidhi Mahajan ◽  
Niyaz Ahmed Khan ◽  
Natasha Gupta
Keyword(s):  
Past History ◽  
Case Reports ◽  
Final Diagnosis ◽  
Adrenal Carcinoma ◽  
Case Presentation ◽  
First Case ◽  
Contrast Enhanced ◽  
Paediatric Age ◽  
History Of ◽  
Enhanced Computed Tomography

Abstract Background Mixed cortico-medullary adrenal carcinoma (MCMAC) is an extremely rare entity with scarce literature on its cytomorphology. Case presentation A 2-year-old girl presented with abdominal pain for 3 days and a past history of fever with significant weight loss. On examination, a non-tender left hypochondrial firm mass and an enlarged left supraclavicular node were found. Twenty-four-hour urinary levels of VMA were marginally high. Contrast-enhanced computed tomography of the abdomen showed a suprarenal heterogeneous mass encasing major vessels. Aspiration cytology of both mass and node showed similar features comprising a predominant population of singly scattered large cells with moderate cytoplasm, eccentric nucleus and prominent nucleolus in a necrotic background. Tumour cells expressed Synaptophysin and Melan-A. In view of increasing respiratory distress, debulking surgery was performed, and histopathology of the specimen revealed the presence of both malignant medullary and cortical components supported by immunohistochemistry making a final diagnosis of MCMAC. The patient succumbed to death in the postoperative period. The cytology slides were reviewed and were seen to show a dual cell population. Conclusion Coexistent malignant cortical and medullary tumour of the adrenal gland is the first case reported in the paediatric age group in the literature with only three previous case reports in adults.

scholarly journals Case report: clues to the diagnosis of an unsuspected massive levothyroxine overdose

CJEM ◽  
2015 ◽  
Vol 17 (6) ◽  
pp. 692-698 ◽  
Author(s):  
Kirstie M. Allen ◽  
Veronica B. Crawford ◽  
John V. Conaglen ◽  
Marianne S. Elston
Keyword(s):  
Thyroid Hormone ◽  
Pediatric Population ◽  
Thyroid Stimulating Hormone ◽  
Sex Hormone Binding Globulin ◽  
Hormone Binding ◽  
Free Triiodothyronine ◽  
History Of ◽  
Symptoms And Signs ◽  
Free Thyroxine Level ◽  
Biochemical Features

AbstractThere is currently little literature pertaining to levothyroxine overdose apart from minor or accidental overdoses in the pediatric population. In particular, there is little information available on how to confidently differentiate levothyroxine overdose from endogenous causes of thyrotoxicosis when there is no history available at the time of assessment.We report a levothyroxine (15,800 mcg) and citalopram (2,460 mg) overdose in a 55-year-old woman presenting with seizure and tachycardia in which the diagnosis was not initially suspected. Clinical data, including a long history of treated hypothyroidism and lack of a goiter; and biochemical findings, such as an incompletely suppressed thyroid-stimulating hormone (TSH) level, despite a markedly elevated free thyroxine level (FT4), a normal sex hormone-binding globulin level at baseline, and an undetectable thyroglobulin, supported the diagnosis of thyrotoxicosis due to a massive exogenous thyroid hormone overdose. Treatment was given to decrease free triiodothyronine (FT3) conversion and increase thyroid hormone clearance with dexamethasone and cholestyramine. The patient made a full recovery.Levothyroxine overdose can result in subtle symptoms and signs clinically, even when in massive quantities. This can make diagnosis challenging. Biochemical features, such as the pattern of thyroid hormone elevation and thyroglobulin levels, help differentiate exogenous thyroid hormone overdose from endogenous causes of thyrotoxicosis.

Sign in / Sign up

Export Citation Format

Share Document