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Congenital hypoaldosteronism is a rare autosomal recessive or dominant endocrinopathy with variable penetrance, secondary to primary defects in aldosterone synthesis that could lead to hypovolemia, hyponatremia, hyperkalemia, failure to thrive, microcephaly, seizures, neurodevelopmental delay, or hearing loss. We present the case of a Colombian patient with congenital hypoaldosteronism, who owns two variants in the CPY11B2 gene, and a heterozygous pathogenic variant for nonclassical congenital adrenal hyperplasia. However, the patient missed follow-up and treatment for 6 years. At the age of 7 years, he resumed medical follow-up with laboratory findings of hyperreninemia and hypoaldosteronism, as well as clinical findings of strabismus, left mixed hyperacusis, and pathological short stature (-4.3 SD). Therefore, a trial of fludrocortisone therapy was started with subsequent improvement in renin levels, weight gain, and growth velocity. After 10 months of the start of the medication, he presented hypertension. There is no literature about the late treatment of this condition for pathological short stature.
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Primary hyperparathyroidism is a disease with multisystemic and heterogeneous manifestations, characterized by underlying high parathormone concentrations. Despite neuropsychiatric involvement being one of the manifestations, psychosis is rare. This is the case of a 68-year-old female with a 10-day clinical course of anorexia, mutism, dysphagia, constipation, and weight loss. The patient had disorganized speech associated with paranoid delusions. Prior to this visit, the patient was recently diagnosed with a mixed anxiety-depressive disorder. For this reason, treatment with antidepressants in combination with atypical antipsychotics was administered without a satisfactory response. Neuroimaging, infectious panel, and toxicology screening showed no abnormal findings. Hypercalcemia secondary to a retropharyngeal ectopic parathyroid adenoma was the causative etiology of her primary hyperparathyroidism, and hypercalcemia treatment resolved the psychotic episode. We highlight the importance of recognizing psychosis as a possible initial presentation of hyperparathyroidism and hypercalcemia. Ruling out organic etiologies prior to diagnosing a primary cause of psychosis is crucial, as their treatment can reverse the psychotic symptoms.
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Myxedema coma is an emergency that develops from non-diagnosed or severe hypothyroidism and requires early recognition and management. Cardiac manifestations are uncommon and pose a challenge in the recognition of myxedema coma. We present the case of a 76-year-old male with a history of thyroidectomy secondary to a follicular carcinoma, who presented with dyspnea, generalized edema, drowsiness, disorientation, memory loss, and episodic generalized tonic-clonic seizures. Antiepileptic and diuretic treatment for seizures and heart failure exacerbation did not improve the symptoms. Further blood analysis revealed a thyroid-stimulating hormone and free thyroxine of 163 mUL/L and 0.64 ng/dL, respectively. Treatment with intravenous hydrocortisone and levothyroxine led to progressive clinical improvement. Uncommon clinical manifestations such as cardiac and non-specific neurologic symptoms should be considered as manifestations of myxedema coma. A comatose mental status is not a universal manifestation, and milder symptoms should be considered. An adequate assessment, including diagnostic scores and prompt hormonal supplementation prevents fatal consequences.
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Familial hyperchylomicronemia syndrome is a monogenic autosomal recessive disorder that causes severe and refractory hypertriglyceridemia. This uncommon condition is challenging to diagnose and treat and can lead to comorbidities such as acute pancreatitis. Although treatment options are limited in the pediatric population, strict diets and treatments approved for other dyslipidemias may be implemented in familial hyperchylomicronemia syndrome, given the lack of pharmacological interventions available. We report a 14-year-old female presented to the emergency room with abdominal pain suggestive of acute pancreatitis. Biochemical analysis revealed a triglyceride value of 4260 mg/dL. Treatment for triglyceride reduction with a strict CHILD-2 triglyceride-lowering diet, insulin infusion, fibrates, and multiple plasmapheresis were initially insufficient. Primary hypertriglyceridemia was suspected, and genetic testing identified a homozygous pathogenic variant in the lipoprotein lipase gene, diagnosing familial hyperchylomicronemia syndrome. She was discharged with a maximum dose of fibrate, statin, omega-3 fatty acids, and a restrictive diet. At her 1-month and 9-month follow-ups, her triglyceride values were 756 and 495 mg/dL, respectively, without incident complications. Familial hyperchylomicronemia syndrome is an uncommon condition with limited available literature and treatment options, especially in the pediatric population. Acute pancreatitis secondary to severe hypertriglyceridemia is a condition with a high risk of mortality which requires prompt clinical suspicion and treatment.
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Diabetic ketoacidosis is a life-threatening complication associated with type 1 diabetes (T1D). Recent evidence suggests that SARS-CoV-2 could trigger diabetic ketoacidosis in type 1 diabetes susceptibility and previous insulitis; however, the data on SARS-CoV-2-infected patients with diabetic ketoacidosis as their type 1 diabetes are still limited. We report a 13-year-old Latinamerican male with symptoms and laboratory tests diagnostic of diabetic ketoacidosis and positive SARS-CoV-2 reverse transcription polymerase chain reaction, who required mild COVID-19 care management, fluid resuscitation, and insulin infusion at a regular dose, without further complications after the acute infection. Clinical/biochemical improvement allowed outpatient endocrinology follow-up with insulin therapy and continuous glucose monitoring. To our knowledge, we report the first case of diabetic ketoacidosis as the debut of type 1 diabetes in a Colombian pediatric patient with concurrent SARS-CoV-2 infection. Therefore, this report aims to contribute to the global research on SARS-CoV-2 and diabetic ketoacidosis and discuss the approach to these concomitant pathologies.
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Coronavirus 19 disease (COVID-19) presents a highly variable clinical presentation and course, ranging from asymptomatic patients to rapidly progressive, fatal pneumonia. The known heterogeneous outcomes can affect both previously healthy patients and those with significant comorbidities, who develop clinical courses with possibly more multisystemic compromise. Likewise, the development of thrombotic phenomena during the acute course of the disease is associated with complications that worsen patient prognosis. We present a case report of a 45-year-old multiparous patient with a history of overweight and chronic use of oral hormonal contraception with low doses of levonorgestrel and estradiol as the only risk factors favoring the development of thrombotic events. During her outpatient COVID-19 clinical course, she developed massive pulmonary thromboembolism resulting in secondary obstructive shock, which required pharmacological thrombolysis. At discharge, hormonal contraception was considered contraindicated, and the patient was released from our institution with continued oral anticoagulant therapy. COVID-19 infection, contraceptive hormone therapy, and overweight are known risk factors for the development of thromboembolic events. The impact of their concomitance has not been studied to date. From our experience, we discuss the impact these risk factors have when present together and invite others to report similar cases.
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BACKGROUND: Thyroid eye disease is an autoimmune disorder of the orbital retrobulbar tissue commonly associated with dysthyroid status. The most frequent condition is hyperthyroidism, although it is also present in hypothyroid and euthyroid patients. The prevalence of thyroid conditions in patients with thyroid eye disease had been previously evaluated; however, there is no consensus on a global prevalence. The study aims to estimate the prevalence of hyperthyroidism, hypothyroidism, and euthyroidism in patients with TED, through a systematic review of literature. METHODS: We conducted a systematic review of the literature following the PRISMA guidelines, in MEDLINE, COCHRANE, EMBASE, Science Direct, and LILACS databases. Inclusion criteria were primary studies of patients with a diagnosis of thyroid eye disease made by an ophthalmologist or with diagnosis criteria, with measurement of thyroid function (TSH, T3, and free T4), and diagnosis of the primary thyroid condition. A quality assessment was made through the Joanna Briggs Institute Quality tools. Finally, we extracted relevant details about the design, the results, and the prevalence of thyroid disorders in thyroid eye disease. RESULTS: The initial search revealed 916 studies, of which finally thirteen met inclusion criteria. Six studies were performed in Europe (Germany, Wales, and Spain), five in Asia (Iran, South Korea, Japan, and Singapore), one in North America (USA), and one in Africa (Ghana). The global prevalence, in patients of thyroid eye disease, was 10.36% for hypothyroidism, 7.9% for euthyroidism, and 86.2% for hyperthyroidism. CONCLUSIONS: Professionals should be aware that thyroid eye disease can be present in patients with a normal thyroid function. The assessment for these patients is based on orbital images; serum TSH, T3, and free T4; antibody levels as thyrotropin receptor antibodies; and thyroperoxidase levels. Additionally, we want to encourage research in this field in other regions of the world such as Latin America. SYSTEMATIC REVIEW REGISTRATION: PROSPERO ID CRD42020107167.