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1.
BMJ Case Rep ; 17(1)2024 Jan 16.
Artigo em Inglês | MEDLINE | ID: mdl-38232995

RESUMO

Dizziness is one of the most common complaints encountered in the outpatient clinic, which is difficult to diagnose, especially in older patients because of the multifactorial nature of the disease. Although not commonly recognised, anhidrosis can also cause dizziness.We report a case of a woman in her 70s who presented with long-term recurrent dizziness. She had a history of frequent hospitalisations for heatstroke. Physical examination revealed markedly less sweating in the left axilla and soles than in the right. Minol test revealed that most of the left side of her body, including the face, was anhidrotic. She was diagnosed with idiopathic segmental anhidrosis. We administered steroid pulse therapy without observing any significant effects.Although anhidrosis is a rare disorder, a careful interview and physical examination should be conducted to confirm a history of heatstroke and the absence of sweating to avoid missing the disease.


Assuntos
Golpe de Calor , Hipo-Hidrose , Feminino , Humanos , Idoso , Hipo-Hidrose/diagnóstico , Hipo-Hidrose/etiologia , Tontura/etiologia , Sudorese , Vertigem , Golpe de Calor/complicações
2.
BMJ Case Rep ; 17(1)2024 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-38195184

RESUMO

Chondrodermatitis nodularis helicis (CNH) is a painful, inflammatory condition that impacts the skin of the ear. It is commonly associated with pressure on the pinna causing a nodule that may have erythema, bleeding and exudate. We present a case of a woman in her 60s with a history of basal cell carcinoma who presented with a new tender spot on the antihelix of her left ear. The tenderness of the new spot forced her to switch from holding her phone to her left ear to using her right ear. A shave biopsy confirmed CNH and ruled out non-melanoma skin cancer. Although most prior cases report association with sleeping on the side of the affected ear, this case was attributed to cell phone use. It is important to remember that non-traditional sources of pressure can also lead to CNH.


Assuntos
Dermatite , Neoplasias Cutâneas , Feminino , Humanos , Orelha Externa , Hemorragia , Pele , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/diagnóstico , Pessoa de Meia-Idade , Idoso
3.
BMJ Case Rep ; 17(2)2024 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-38331450

RESUMO

A woman in her 70s presented with epigastric pain accompanied by radiating pain. Despite various examinations showing no abnormalities, tenderness was identified on palpation of the xiphoid process. The symptoms were alleviated with a local injection of lidocaine, leading to a diagnosis of xiphodynia. While previous cases have often reported a decrease in the xiphoid process-sternal angle, this case exhibited minimal reduction in the xiphoid process-sternal angle. Conversely, compression findings were observed in the soft tissues, including the rectus abdominis, anterior to the xiphoid process. This case report suggests that in the imaging diagnosis of xiphodynia, consideration of compression findings in the soft tissues anterior to the xiphoid process may also be valuable.


Assuntos
Doenças Ósseas , Processo Xifoide , Feminino , Humanos , Dor no Peito , Reto do Abdome/diagnóstico por imagem , Esterno , Idoso
4.
BMJ Case Rep ; 17(4)2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38670568

RESUMO

We describe a patient who had failed renal transplant after 13 years, eventually requiring a graft nephrectomy and discontinuation of immunosuppressive therapy, including antithymocyte globulin, tacrolimus and mycophenolate while on steroid avoidance protocol. Within a few months of complete discontinuation of the immunosuppressive medications, she developed lower back pain associated with numbness in her right anterolateral thigh. The radiological imaging demonstrated multiple bony lesions throughout her axial and appendicular skeleton with normal pulmonary findings. A computerised tomography-guided bone biopsy from the left iliac crest revealed fragments of bone with granulomatous inflammation, thus making the diagnosis of extrapulmonary sarcoidosis. Initiating treatment with prednisone resulted in near-complete resolution of symptoms. Long-term immunosuppressive therapy is administered to all renal transplant recipients to help prevent acute rejection and loss of renal allograft. This case highlights that immunosuppressants can conceal the presence of underlying conditions in transplant patients.


Assuntos
Imunossupressores , Transplante de Rim , Sarcoidose , Humanos , Feminino , Sarcoidose/tratamento farmacológico , Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Doenças Ósseas/diagnóstico por imagem , Doenças Ósseas/etiologia , Doenças Ósseas/induzido quimicamente , Tomografia Computadorizada por Raios X , Pessoa de Meia-Idade , Prednisona/uso terapêutico , Prednisona/administração & dosagem
5.
BMJ Case Rep ; 17(4)2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38627053

RESUMO

This case of Pleisimonas shigelloides bacteremia resulting after a catfish barb injury highlights an unusual presentation of a common condition that requires alternative therapy for successful treatment. An otherwise healthy male in his early 40s presented to the emergency department with sepsis and rapidly spreading cellulitis shortly after a catfish injury at a freshwater lake. His broad-spectrum antibiotics were narrowed to ciprofloxacin when P. shigelloides grew from his blood culture. The case presents a unique mode of bacteremia, as usually P. shigelloides bacteremia develops in immunocompromised hosts after bowel wall translocation. The venomous nature of catfish barbs also contributed to the severity and rapidity of his presentation secondary to the local tissue effects of envenomation. With proper antibiotics and supportive care, he made a full recovery.


Assuntos
Bacteriemia , Peixes-Gato , Infecções por Bactérias Gram-Negativas , Plesiomonas , Animais , Humanos , Masculino , Infecções por Bactérias Gram-Negativas/diagnóstico , Infecções por Bactérias Gram-Negativas/tratamento farmacológico , Infecções por Bactérias Gram-Negativas/complicações , Bacteriemia/tratamento farmacológico , Bacteriemia/complicações , Antibacterianos/uso terapêutico
6.
BMJ Case Rep ; 17(7)2024 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-38991564

RESUMO

Previous studies have linked persistent elevations in growth hormone (GH) and insulin-like growth factor-1 (IGF-1) to cardiac abnormalities including aortic root dilation. Guidelines in the management of this dilation below the size recommended for surgery have not been well defined but follow-up and intervention when appropriate could be life-saving. We report the case of a man in his 60s who had been living with undiagnosed acromegaly for many years. His initial assessment through point-of-care ultrasound raised concerns about potential cardiac enlargement, prompting further investigation with a formal echocardiogram, which revealed a significant aortic root dilation measuring 4.5 cm. Subsequent blood tests confirmed elevated levels of IGF-1. Brain MRI showed a focal lesion in the pituitary gland, which was surgically resected, confirming the diagnosis of a GH-secreting pituitary adenoma. One year after surgery, a repeat CT angiogram of the chest demonstrated a stable size of the aortic root aneurysm.


Assuntos
Acromegalia , Humanos , Masculino , Acromegalia/diagnóstico por imagem , Pessoa de Meia-Idade , Fator de Crescimento Insulin-Like I/metabolismo , Fator de Crescimento Insulin-Like I/análise , Ecocardiografia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/cirurgia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/diagnóstico por imagem , Adenoma Hipofisário Secretor de Hormônio do Crescimento/complicações , Dilatação Patológica , Imageamento por Ressonância Magnética , Adenoma/cirurgia , Adenoma/diagnóstico por imagem , Adenoma/complicações , Adenoma/patologia , Neoplasias Hipofisárias/diagnóstico por imagem , Neoplasias Hipofisárias/cirurgia , Neoplasias Hipofisárias/complicações
7.
BMJ Case Rep ; 17(9)2024 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-39277194

RESUMO

Nonepisodic angioedema with eosinophilia (NEAE) is characterised by a single episode of angioedema localised to the extremities and peripheral eosinophilia. While NEAE can develop in response to infection or vaccination, NEAE associated with acute parvovirus B19 (B19V) infection is rare. We describe the case of a young woman with NEAE that developed during acute B19V infection. She presented with 1-week history of pruritus and polyarthralgia in the extremities, followed by the development of peripheral oedema, and was positive for anti-B19V IgM antibody. Her arthralgia improved within 2 weeks without any specific intervention; however, the oedema and pruritic erythema persisted and the peripheral eosinophil count increased. A short course of prednisolone therapy for suspected NEAE alleviated the symptoms, which have not recurred for more than 2 years. Thus, we believe that the patient was affected by NEAE and that NEAE can develop following acute B19 infection.


Assuntos
Angioedema , Eosinofilia , Parvovirus B19 Humano , Humanos , Feminino , Parvovirus B19 Humano/imunologia , Angioedema/tratamento farmacológico , Angioedema/virologia , Angioedema/diagnóstico , Eosinofilia/tratamento farmacológico , Eosinofilia/virologia , Eosinofilia/complicações , Prednisolona/uso terapêutico , Adulto , Eritema Infeccioso/complicações , Eritema Infeccioso/diagnóstico , Infecções por Parvoviridae/complicações , Infecções por Parvoviridae/diagnóstico , Infecções por Parvoviridae/tratamento farmacológico , Artralgia/etiologia , Artralgia/virologia , Doença Aguda
8.
BMJ Case Rep ; 17(8)2024 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-39179262

RESUMO

Arteriovenous malformations (AVMs) in mesenteric vessels are exceptionally rare. These congenital vascular anomalies lead to direct vascular flow between the highly pressured arterial system and the low-pressure venous system. We describe the case of a patient with prior left colectomy for splenic flexure colonic adenocarcinoma presenting with persistent abdominal pain after developing multiple mesenteric thromboses. CT and colonoscopy showed left hemicolon congestion, anastomotic stenosis and mucosal oedema. Mesenteric angiogram revealed AVMs in the right colic and left colic arteries. Embolisation of the left colic AVM led to symptom resolution without recurrence at interval follow-up.


Assuntos
Malformações Arteriovenosas , Humanos , Malformações Arteriovenosas/complicações , Malformações Arteriovenosas/diagnóstico por imagem , Trombose/diagnóstico por imagem , Trombose/etiologia , Masculino , Neoplasias do Colo/complicações , Neoplasias do Colo/cirurgia , Embolização Terapêutica , Colectomia , Adenocarcinoma/complicações , Doenças do Colo/etiologia , Doenças do Colo/diagnóstico por imagem , Doenças do Colo/cirurgia , Dor Abdominal/etiologia , Colo/irrigação sanguínea , Tomografia Computadorizada por Raios X , Colonoscopia , Oclusão Vascular Mesentérica/diagnóstico por imagem , Oclusão Vascular Mesentérica/etiologia
9.
BMJ Case Rep ; 17(9)2024 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-39266024

RESUMO

Two men in their 60s and 40s were diagnosed with erythema nodosum leprosum based on the development of recurrent painful ulcers and nodules, respectively, for the previous 6 months. Thalidomide 100 mg four times a day, along with MB-MDT, was started in both patients. Both patients experienced severe dizziness on rising from a seated posture soon after initiation of thalidomide and a decrease in blood pressure and heart rate. Cardiovascular/neurology examination and routine blood investigations were normal. An autonomic nervous system assessment indicated bradycardia, postural hypotension and decreased cardiac autonomic function. The dosage of thalidomide was then gradually reduced over 4-5 days to 100 mg/day following a suspicion that thalidomide was the cause of postural hypotension. The dizziness subsided, and blood pressure and heart rate returned to normal.We concluded that thalidomide was the culprit behind bradycardia and dose- dependent postural hypotension.


Assuntos
Bradicardia , Eritema Nodoso , Hipotensão Ortostática , Talidomida , Humanos , Talidomida/efeitos adversos , Talidomida/uso terapêutico , Talidomida/administração & dosagem , Bradicardia/induzido quimicamente , Bradicardia/tratamento farmacológico , Masculino , Eritema Nodoso/tratamento farmacológico , Hipotensão Ortostática/tratamento farmacológico , Hipotensão Ortostática/induzido quimicamente , Adulto , Pessoa de Meia-Idade , Hanseníase Virchowiana/tratamento farmacológico , Hanseníase Virchowiana/complicações , Hansenostáticos/efeitos adversos , Hansenostáticos/uso terapêutico , Hansenostáticos/administração & dosagem
10.
BMJ Case Rep ; 17(8)2024 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-39214579

RESUMO

A man in his 20s presented with a painless, slow-growing firm swelling in the anterolateral aspect of his left forearm. The swelling had been present for 1 year and measured 10×12 cm. Clinically, a differential diagnosis of soft tissue sarcoma, lipoma, neurofibroma, dermoid cyst and hydatid cyst of the extremity was considered. MRI suggested a primary intramuscular hydatid cyst. However, fine-needle aspiration was inconclusive, and ELISA for immunoglobulin G antibodies to echinococcal antigen in serum was negative. A wide-local complete surgical excision of the lesion was planned. Intraoperatively, a well-defined, tense cystic swelling with surrounding dense adhesions was found within the intramuscular plane. Histopathological examination of the cyst wall revealed cysticercosis. The patient recovered uneventfully. This case highlights that solitary intramuscular cysticercosis, although rare, should be included in the differential diagnosis of an isolated soft tissue mass, particularly in endemic areas.


Assuntos
Cisticercose , Antebraço , Neoplasias de Tecidos Moles , Humanos , Masculino , Cisticercose/diagnóstico , Diagnóstico Diferencial , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/diagnóstico por imagem , Imageamento por Ressonância Magnética , Adulto , Doenças Musculares/diagnóstico , Doenças Musculares/parasitologia
11.
BMJ Case Rep ; 17(1)2024 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-38286581

RESUMO

A male in his 60s presented to the emergency department (ED) with a 3-week history of fever and progressive confusion. Initial laboratory and radiographic workup was largely unremarkable except for moderate bilateral pleural effusions. The patient was admitted on broad-spectrum antibiotics and further workup for fever of unknown aetiology. The differential diagnosis was broadened to different zoonotic infections, and subsequent laboratory testing showed a markedly elevated Bartonella henselae IgG and Bartonella quintana IgG (1:4096 and 1:512, respectively) in addition to positive B. henselae IgM titre (>1:20). During hospitalisation, the patient became more hypoxic and was found to have enlarging pleural effusions as well as a new pericardial effusion. The patient was treated with intravenous then oral doxycycline 100 mg two times per day and oral rifampin 300 mg two times per day for 4 weeks with subsequent improvement in clinical status as well as both effusions. This case highlights a unique presentation of Bartonella and its rare manifestation of pleural and pericardial effusions.


Assuntos
Infecções por Bartonella , Derrame Pericárdico , Derrame Pleural , Humanos , Masculino , Infecções por Bartonella/complicações , Infecções por Bartonella/diagnóstico , Infecções por Bartonella/tratamento farmacológico , Diagnóstico Diferencial , Imunoglobulina G , Derrame Pericárdico/diagnóstico , Derrame Pleural/etiologia , Derrame Pleural/diagnóstico , Pessoa de Meia-Idade , Idoso
12.
BMJ Case Rep ; 17(2)2024 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-38417936

RESUMO

Reed's syndrome (RS) is a rare autosomal-dominant disorder characterised by multiple cutaneous and uterine leiomyomas, with a strong tendency for renal cell carcinoma (RCC) development. A woman in her 50s, who had previously undergone total abdominal hysterectomy due to multiple uterine leiomyomas, presented with painful nodules on her trunk and right arm for the past 6 years. These nodules were confirmed as leiomyomas through histopathology. Diagnosis of RS was established through clinicopathological correlation and positive family history, particularly her mother's. Early-onset uterine leiomyomas in patients with a similar family history should raise suspicion for RS, necessitating vigilant long-term follow-up. RCC detection requires mandatory renal imaging. Screening family members and providing genetic counselling are crucial.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Leiomiomatose , Síndromes Neoplásicas Hereditárias , Neoplasias Cutâneas , Neoplasias Uterinas , Feminino , Humanos , Carcinoma de Células Renais/genética , Neoplasias Uterinas/diagnóstico por imagem , Neoplasias Uterinas/cirurgia , Leiomiomatose/diagnóstico por imagem , Leiomiomatose/cirurgia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/cirurgia , Neoplasias Cutâneas/genética , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/cirurgia , Síndromes Neoplásicas Hereditárias/patologia , Neoplasias Renais/genética , Fumarato Hidratase/genética
13.
BMJ Case Rep ; 17(4)2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38670567

RESUMO

We report a man in his 70s who presented with discrepant serum creatinine concentrations in different hospitals at the same time. Further examinations of these discrepancies revealed turbidity of the serum sample and, thus, a reagent reaction and false hypercreatinine caused by paraprotein interference were suspected. Serum protein electrophoresis revealed a small amount of monoclonal γ globulin (2.9 g/L), which may have been involved in paraprotein interference. Monoclonal λ-type IgG was detected in the serum, resulting in a diagnosis of monoclonal gammopathy of undetermined significance. Previous studies indicated paraprotein interference in serum containing monoclonal IgM or a large amount of IgG (> 25 g/L). Although this case of paraprotein interference induced by a small amount of IgG is rare, a discrepancy in creatinine results may be an indicator leading to the diagnosis of plasma cell proliferative diseases.


Assuntos
Creatinina , Gamopatia Monoclonal de Significância Indeterminada , Paraproteínas , Humanos , Masculino , Gamopatia Monoclonal de Significância Indeterminada/diagnóstico , Gamopatia Monoclonal de Significância Indeterminada/sangue , Creatinina/sangue , Paraproteínas/análise , Idoso , Imunoglobulina G/sangue , Eletroforese das Proteínas Sanguíneas
14.
BMJ Case Rep ; 17(1)2024 Jan 16.
Artigo em Inglês | MEDLINE | ID: mdl-38233001

RESUMO

Vibration white finger is a form of secondary Raynaud's phenomenon (RP) caused by the use of handheld vibrating tools. RP usually appears on the extremities of the fingers, and its borders are well recognised. No reports have been published on 'mottled' RP in continuous observation from the onset to the disappearance of RP. A man in his 60s who had been using vibrating tools such as jackhammers and tampers for 30 years presented with sensations of coldness, burning and numbness. Whole-body cold exposure was performed outdoors in winter, and RP was photographed continuously. 'Mottled' RP can be defined as triphasic colour changes: white, blue and red. The patient was taken off work, kept warm and medicated. His symptoms improved slightly after 10 years of follow-up, but the RP did not disappear. 'Mottled' RP is rare and refractory and should be recognised as a form of RP.


Assuntos
Síndrome da Vibração do Segmento Mão-Braço , Doenças Profissionais , Doença de Raynaud , Masculino , Humanos , Síndrome da Vibração do Segmento Mão-Braço/complicações , Síndrome da Vibração do Segmento Mão-Braço/diagnóstico , Vibração/efeitos adversos , Doença de Raynaud/diagnóstico , Doença de Raynaud/etiologia , Dedos , Hipestesia , Doenças Profissionais/etiologia , Doenças Profissionais/complicações
15.
BMJ Case Rep ; 17(7)2024 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-39079901

RESUMO

This is a case of a woman in her 50s with HIV and uncontrolled diabetes who presented to the emergency department with urinary retention and a painful gluteal cleft lesion, admitted for cellulitis. Since initial CT and soft tissue ultrasound (US) were negative for fluid collection, the care team was surprised to find her symptoms continued to progress despite intravenous antibiotics. Finally, MRI 9 days into her admission demonstrated a 12-cm perirectal horseshoe abscess. The patient was ultimately treated with incision and drainage with Penrose drain placement. This case demonstrates the importance of maintaining a high suspicion for horseshoe abscess, a complex form of ischiorectal fossa abscess which can be missed on CT and US imaging, and which may expand rapidly in immunosuppressed patients.


Assuntos
Abscesso , Diagnóstico Tardio , Drenagem , Humanos , Feminino , Pessoa de Meia-Idade , Abscesso/diagnóstico por imagem , Abscesso/diagnóstico , Drenagem/métodos , Imageamento por Ressonância Magnética , Antibacterianos/uso terapêutico , Antibacterianos/administração & dosagem , Doenças Retais/diagnóstico , Doenças Retais/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Infecções por HIV/complicações , Nádegas/diagnóstico por imagem , Retenção Urinária/etiologia
16.
BMJ Case Rep ; 17(9)2024 Sep 19.
Artigo em Inglês | MEDLINE | ID: mdl-39304215

RESUMO

A female of reproductive age presents to the emergency department with progressive dyspnoea due to pneumothorax. She has a history of lymphangioleiomyomatosis (LAM) diagnosed by lung biopsy 15 years ago following incidental finding of pneumothorax. Despite various procedural and medicinal treatments, she continued to have recurrent pneumothorax, with three hospital admissions over the preceding 3 months. LAM is a rare cystic lung disease affecting the lymphatic system, which most commonly affects women of childbearing age. It can be diagnosed via imaging or tissue biopsy (gold standard). Treatment can be difficult, and it often requires highly specialised care by pulmonologists and often confers significant limitations to patients' independence and quality of life. Family physicians are often part of multidisciplinary team to provide care to patients with rare chronic conditions.


Assuntos
Linfangioleiomiomatose , Pneumotórax , Recidiva , Humanos , Linfangioleiomiomatose/complicações , Linfangioleiomiomatose/diagnóstico , Pneumotórax/etiologia , Pneumotórax/terapia , Feminino , Neoplasias Pulmonares/complicações , Adulto , Tomografia Computadorizada por Raios X , Dispneia/etiologia
17.
BMJ Case Rep ; 17(7)2024 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-39074935

RESUMO

We report a case of a man in his 70s who developed haemoptysis 3 days after commencing sildenafil. Before postulating a potential connection between sildenafil use and haemoptysis, it is important to rule out potential other causative factors and comorbidities. The patient suffers from multiple medical conditions and takes various medications. On examination, no abnormalities were discovered. There were no recent significant changes in his bloodwork. Cessation of sildenafil coincided with spontaneous symptom resolution. Chest CT was performed, and no abnormalities were reported. Pseudohaemoptysis or malignancy may be the main differential diagnoses of haemoptysis in elderly patients with multiple comorbidities. Concurrent anticoagulation of the patient may predispose to haemoptysis and is likely to be of greater clinical concern.


Assuntos
Hemoptise , Citrato de Sildenafila , Humanos , Citrato de Sildenafila/efeitos adversos , Masculino , Hemoptise/induzido quimicamente , Idoso , Tomografia Computadorizada por Raios X , Diagnóstico Diferencial , Vasodilatadores/efeitos adversos
18.
BMJ Case Rep ; 17(8)2024 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-39142847

RESUMO

Renal tubular acidosis is a well-known consequence of primary Sjogren's syndrome (pSS), but a rare manifestation similar to acute pancreatitis in pSS. Here, we discuss the case of a woman in her 50s, who presented to a tertiary care hospital with recurrent episodes of sudden-onset weakness in all four limbs, recurrent vomiting and epigastric pain. She had non-anion gap metabolic acidosis with hypokalaemia and was diagnosed with pSS with hypokalaemic periodic paralysis. She was also diagnosed with acute pancreatitis based on elevated amylase and lipase levels and CT findings. The article highlights the diverse spectrum of clinical manifestations of pSS, including renal and pancreatic involvements, which can be rare consequences of the disease.


Assuntos
Paralisia Periódica Hipopotassêmica , Pancreatite , Síndrome de Sjogren , Humanos , Feminino , Síndrome de Sjogren/complicações , Síndrome de Sjogren/diagnóstico , Pancreatite/diagnóstico , Pancreatite/etiologia , Pancreatite/complicações , Pessoa de Meia-Idade , Paralisia Periódica Hipopotassêmica/diagnóstico , Paralisia Periódica Hipopotassêmica/etiologia , Diagnóstico Diferencial , Acidose Tubular Renal/diagnóstico , Acidose Tubular Renal/complicações , Doença Aguda , Tomografia Computadorizada por Raios X
19.
BMJ Case Rep ; 17(8)2024 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-39209755

RESUMO

We present a case of a woman in her 20s who presented to the emergency department with a 1-month history of blurry vision, lower extremity weakness in both legs and progressive numbness involving the feet and anterior chest. On admission, the patient was unable to ambulate. She was 3 months status post laparoscopic vertical sleeve gastrectomy for weight loss and using transdermal vitamin patches for nutritional supplementation. Laboratory values revealed low levels of vitamin B1, vitamin A, vitamin D, folic acid and copper levels. The patient was diagnosed with Wernicke encephalopathy and possible peripheral neuropathy secondary to thiamine deficiency. She was started on intravenous thiamine 500 mg three times a day and folate 1 mg one time a day for 3 days and then transitioned to oral thiamine 500 mg along with a multivitamin tablet. Improvement in ophthalmoplegia, weakness, sensation and cognition was noticed after initiating treatment.


Assuntos
Gastrectomia , Deficiência de Tiamina , Tiamina , Encefalopatia de Wernicke , Humanos , Encefalopatia de Wernicke/etiologia , Encefalopatia de Wernicke/diagnóstico , Encefalopatia de Wernicke/tratamento farmacológico , Feminino , Deficiência de Tiamina/etiologia , Deficiência de Tiamina/complicações , Gastrectomia/efeitos adversos , Tiamina/uso terapêutico , Tiamina/administração & dosagem , Adulto , Ácido Fólico/administração & dosagem , Ácido Fólico/uso terapêutico , Complexo Vitamínico B/administração & dosagem , Complexo Vitamínico B/uso terapêutico , Complicações Pós-Operatórias/etiologia
20.
BMJ Case Rep ; 17(5)2024 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-38782444

RESUMO

Glycogen storage disease type 1A (GSD1A), also known as Von Gierke's disease, is a rare autosomal recessive disorder affecting glycogen metabolism in the liver. It most commonly presents in infancy with hypoglycaemia and failure to thrive, but cases have been reported as undiagnosed until adulthood. A woman in her early 20s with diabetes mellitus presented with right upper quadrant pain and was found to have several haemorrhagic hepatic adenomas. This patient had insulin-dependent diabetes since a pancreatectomy at age 9 months due to continued episodes of hypoglycaemia and suspected insulinoma. During the hospital stay, the hepatic adenomas were embolised, but significant lactic acidosis and hypoglycaemia continued. Further workup revealed a chronic lactic acid level, during several hospital stays, of above 5 mmol/L. After cytology of hepatic tissue ruled out hepatocellular carcinoma, the patient was discharged and recommended to follow-up for genetic testing, which confirmed the diagnosis of GSD1A.


Assuntos
Hiperinsulinismo Congênito , Doença de Depósito de Glicogênio Tipo I , Neoplasias Hepáticas , Humanos , Feminino , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/diagnóstico , Hiperinsulinismo Congênito/genética , Hiperinsulinismo Congênito/diagnóstico , Doença de Depósito de Glicogênio Tipo I/complicações , Doença de Depósito de Glicogênio Tipo I/genética , Doença de Depósito de Glicogênio Tipo I/diagnóstico , Adulto , Adenoma de Células Hepáticas/genética , Adenoma de Células Hepáticas/diagnóstico , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/genética , Adulto Jovem , Adenoma/genética , Adenoma/diagnóstico , Adenoma/complicações , Adenoma/cirurgia , Diagnóstico Diferencial
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