A delayed diagnosis of hyperthyroidism in a patient with persistent vomiting in the presence of Chiari type 1 malformation.

IF 2.2 Q2 MEDICINE, GENERAL & INTERNAL
Diagnosis Pub Date : 2024-08-21 DOI:10.1515/dx-2024-0073
Diana Rodriguez-Hurtado, José Camones-Huerta, Claudia Núñez Mochizaki
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引用次数: 0

Abstract

Objectives: To present and discuss an uncommon clinical presentation of hyperthyroidism in a female patient with Chiari type 1 malformation. We explore how her medical history influenced the diagnostic process and ultimately contributed to the delayed diagnosis.

Case presentation: In this case study, we discuss an unusual presentation of hyperthyroidism in a 35-year-old female with Chiari type 1 malformation. Initially experiencing headaches, tremors, and dizziness, the patient consulted multiple specialists without a clear diagnosis. Later, she developed recurrent vomiting unrelated to food intake, significant weight loss (12 kg), and muscle weakness, leading to her hospitalization. After six months of clinical evaluation with several specialists (neurologists, neurosurgeons, and gastroenterologists), she was, finally, diagnosed with hyperthyroidism by an Internal Medicine physician in another private clinic. Treatment with thiamazole and propranolol led to the improvement of symptoms progressively. This case emphasizes the vital role of clinical reasoning, crucial problem-solving, and decision-making processes while addressing cognitive biases in medical specialization. Besides, it highlights the need for internist evaluation in outpatient care to ensure comprehensive assessment and prompt specialist referrals if needed.

Conclusions: This case accentuates the importance of internist evaluation for comprehensive care and timely specialist referrals. Recognizing unusual presentations, like thyrotoxic vomiting, and addressing cognitive biases, such as confirmation and anchor biases, are crucial for accurate and prompt diagnosis. This approach enhances diagnostic accuracy, minimizing unnecessary tests and costs, and alleviates patient suffering.

一名因Chiari 1型畸形而持续呕吐的患者被延迟诊断为甲状腺功能亢进症。
目的:介绍并讨论一名患有恰里1型畸形的女性甲状腺功能亢进症患者的罕见临床表现。我们将探讨她的病史是如何影响诊断过程并最终导致诊断延误的:在本病例研究中,我们讨论了一名患有恰里1型畸形的35岁女性甲亢患者的不寻常表现。患者最初出现头痛、震颤和眩晕,曾就诊于多位专科医生,但均未得到明确诊断。后来,她出现了与进食无关的反复呕吐、体重明显下降(12 千克)和肌肉无力等症状,导致她住院治疗。经过多位专科医生(神经科医生、神经外科医生和消化科医生)六个月的临床评估,她最终被另一家私人诊所的内科医生诊断为甲状腺功能亢进症。接受噻马唑和普萘洛尔治疗后,症状逐渐得到改善。本病例强调了临床推理、关键问题解决和决策过程的重要作用,同时也指出了医学专业中的认知偏差。此外,它还强调了内科医生在门诊护理中进行评估的必要性,以确保进行全面评估并在必要时及时转诊专科医生:本病例强调了内科医生评估对全面护理和及时专科转诊的重要性。识别甲状腺中毒性呕吐等不寻常的表现,消除认知偏差,如确认偏差和锚定偏差,对于准确和及时诊断至关重要。这种方法可以提高诊断的准确性,最大限度地减少不必要的检查和费用,减轻患者的痛苦。
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来源期刊
Diagnosis
Diagnosis MEDICINE, GENERAL & INTERNAL-
CiteScore
7.20
自引率
5.70%
发文量
41
期刊介绍: Diagnosis focuses on how diagnosis can be advanced, how it is taught, and how and why it can fail, leading to diagnostic errors. The journal welcomes both fundamental and applied works, improvement initiatives, opinions, and debates to encourage new thinking on improving this critical aspect of healthcare quality.  Topics: -Factors that promote diagnostic quality and safety -Clinical reasoning -Diagnostic errors in medicine -The factors that contribute to diagnostic error: human factors, cognitive issues, and system-related breakdowns -Improving the value of diagnosis – eliminating waste and unnecessary testing -How culture and removing blame promote awareness of diagnostic errors -Training and education related to clinical reasoning and diagnostic skills -Advances in laboratory testing and imaging that improve diagnostic capability -Local, national and international initiatives to reduce diagnostic error
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