Cristina Ribeiro

Persistent primary hyperparathyroidism: an uncommon location for an ectopic gland - Case report and review

Primary hyperparathyroidism (PHPT) is a common endocrine disorder that mainly affects middle-aged women. Patients are usually asymptomatic. The disease might be ascribable to hyperplasia, carcinoma, and single or multiple adenomas. PHPT may be sporadic or familial, the latter comprising multiple endocrine neoplasia type 1 or 2A, familial benign hypocalciuria hypercalcemia, and hyperparathyroidism-jaw tumor syndrome. The most common causes for persistent PHPT are multiglandular disease, and missed abnormal ectopic or orthotopic parathyroid glands. Imaging localization studies should precede a new surgical intervention. Ectopic parathyroid glands are rarely located at the aortopulmonary window. For diagnosis confirmation, (99m)Tc-sestamibi SPECT/CT seems to be an advantageous test. Another possibility is to perform (99m)Tc-sestamibi followed by thoracic CT or MRI. Parathyroidectomy may be performed by means of median sternotomy, thoracotomy, or video-assisted thoracoscopy. We describe a case of persistent primary hyperparathyroidism due to the presence of an ectopic parathyroid gland found at the aortopulmonary window. As the investigation necessary to clarify the etiology of recurrent nephrolithiasis proceeded, the diagnosis of PHPT was determined. The patient underwent subtotal parathyroidectomy; nevertheless, PHPT persisted. Genetic syndromes that could account for this condition were excluded. Imaging studies available at that time were not able to locate abnormal glands; moreover, the patient refused to undergo surgical exploration. Later, the patient underwent (99m)Tc-sestamibi SPECT/CT, which revealed a parathyroid gland at the aortopulmonary window.

“Broken heart” syndrome in an elder abuse case: forensic considerations from the case

Abstract“Takotsubo” cardiomyopathy (also known as stress cardiomyopathy or “broken heart syndrome”) is a recently recognised transient condition that frequently mimics acute coronary syndrome. It is typically precipitated by acute emotional stress. Elder abuse is the infliction of physical, emotional or psychological harm on an older adult. As in other forms of abuse, elder abuse is a complex problem, easily prone to misconceptions and, therefore, to under-reporting. Herein, the authors present a case of a 76-year-old Caucasian woman, living in a dysfunctional family environment, who presented to her local Emergency Department with acute chest pain following an altercation with her daughter. Diagnostic criteria for “takotsubo” cardiomyopathy were met, namely, ST-segment elevation and T-wave changes, a mild increase of cardiac enzymes, an akinesia of the mid-portion and apex of the left ventricle and no significant epicardial coronary artery disease. The victim was admitted to the Cardiac Department on the second day and her condition improved over the following week. She was discharged and sent home after the situation was reported to competent authorities and subsequently to medico-legal services, who assessed the situation while still in-hospital. The case implications are discussed, as well as the impact that such cases may have when addressing elder abuse management and prevention, with a view to improving the forensic examination of these patients.

A case report for differential diagnosis: Integrative medicine vs child abuse

The authors present the case of a ten-year-old Chinese boy who was taken to a hospital due to the presence of suspicious bruises on his body. The child was examined in the National Institute of Legal Medicine by forensic doctors and a forensic psychologist. Clinical characteristics of the case are summarized stressing that a better understanding of some kinds of integrative medicine (IM) may help to differentiate injuries resulting from those practices. This is the only and unique case diagnosed by the medico-legal services in Portugal. In fact a great range of IM practice has the potential to create confusion in the diagnosis of physical child abuse. This study focuses on the differential diagnosis of one specific kind of frequent skin injury usually seen in situations of both child abuse and IM (in this case TuiNa) - bruises. As the number of people who practice Traditional Chinese Medicine and other forms of IM increases in the Western world, the child protection community would benefit from familiarizing itselves with these practices to prevent social and/or legal conflicts that may arise from mistaken diagnoses of abuse. The objective of this case report is to emphasize the relevance of comprehensive and interdisciplinary evaluation of child abuse cases taking into account the specifics of each case, to achieve a proper diagnosis.

Rastreio de síndrome poliglandular autoimune em uma população de pacientes com diabetes melito tipo 1

OBJECTIVE To characterize a cohort of patients with type 1 diabetes mellitus (T1DM) on the presence of other autoimmune disorders that could establish the diagnosis of autoimmune polyglandular syndrome (APS). SUBJECTS AND METHODS We included 151 patients with T1DM. The following clinical parameters were analyzed: gender, current age, disease duration, previous history of autoimmune disorders, and familial history for diabetes mellitus. Each patient was analyzed to detect autoimmune markers of thyroiditis, adrenocortical insufficiency, gastritis, and celiac disease, as well as possible associated dysfunctions. RESULTS A cohort with 51.7% males, average current age of 33.4 ± 13 years and disease duration of 14.4 ± 9.6 years was analyzed. Previous history of autoimmunity was found in 2%, and familial history for diabetes mellitus in 31.1% of the cohort. Frequency of autoimmune markers was 24% for thyroiditis, 9.4% for adrenocortical insufficiency, 17.2% for gastritis, and 2% for celiac disease. APS was diagnosed on 25.2% of the patients. APS and autoimmune thyroiditis risk was higher in females. Disease duration correlated directly with gastric autoantibodies, and inversely with positive islet cell, glutamic acid decarboxylase, and tyrosine phosphatase antibodies. We noticed a correlation between autoimmune markers for thyroiditis and gastritis, as well as between celiac disease and adrenocortical insufficiency. CONCLUSION Considering APS prevalence and prognosis, the need for APS screening in patients with T1DM is emphasized. Early diagnosis of other autoimmune disorders will enable us to adjust each patient treatment and follow-up.

Non-fatal gunshot wounds in the context of intimate partner violence. The importance of a multidisciplinary approach: A case report

According to Portuguese law, if a case of intimate partner violence is noticed or suspected by a professional working in public services, reporting it to the police, medico-legal services or directly to the public prosecutor is mandatory. However, in most cases, reporting does not take place, despite its vital importance in triggering the multidisciplinary intervention that will ensure the correct and timely diagnosis and protection of the victim. In the present case, the victim, a 37 year-old woman, was sexually and physically abused by her husband in their home, and was physically abused again at the victims mothers house. The victim mentioned that her husband struck her in the head with a hammer and shot a handgun while in her mothers house. However, she denied having a gunshot wound. The couples daughter was also slapped in the face by her father. The police took the victim to the emergency room of a central hospital to receive medical attention, while the medical examiner on duty was called to the same emergency room to perform a medico-legal evaluation in the context of the intimate partner violence reported to the police. Medico-legal assessment revealed scalp injuries that had not been detected during the first inspection by the emergency room attending physicians who had performed a neurological examination, which revealed no neurological dysfunction. A cranial computed tomography with three-dimensional reconstitution and virtual dissection, requested by the medical examiner, revealed two projectiles trapped in between the inner and the outer table of the cranium, with linear fractures only in the inner table and no brain injuries. Gynecological examination with the collection of biological evidence, also performed by the medical examiner, made it possible to identify a male DNA profile matching her husbands. The victim was subjected to neurosurgery and a follow-up, and was released one month after the traumatic event. A forensic psychological evaluation, performed one month after the traumatic event, revealed the presence of reactive symptoms to the occurrence. This multidisciplinary intervention and the use of modern diagnosis imaging techniques allowed for a timely diagnosis and treatment, adequate protection of the victim and her family, as well as the identification of the aggressor, who was arrested.

Long-term survival in a patient with brain metastases of papillary thyroid carcinoma

We present the case of a 43-year-old woman who underwent total thyroidectomy with bilateral lymphadenectomy for a papillary thyroid carcinoma (PTC), solid variant (T4bN1bMx), with V600E BRAF mutation. After ablative therapy, she presented undetectable thyroglobulin (Tg) but progressively increasing anti-Tg antibodies (TgAbs). During follow-up, nodal, lung and brain metastases were identified. She was submitted to surgical excision of lung lesions, radiosurgery of brain metastases and five radioiodine treatments. The latest brain MRI showed no lesions, pulmonary CT showed stable micronodules and there was progressive reduction in TgAbs. This is a peculiar case of a PTC with lung and brain metastatic lesions detected through TgAbs. Initial histological and molecular study suggested a more aggressive clinical behaviour, which was eventually confirmed. Although PTC brain metastases are extremely rare and present poor prognosis, our patient presented a good response to treatment and longer survival than usually reported for similar cases.