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1.
BMJ Case Rep ; 14(4)2021 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-33837025

RESUMO

Neonatal diabetes (NDM) is defined as diabetes that occurs in the first 6 months of life, the majority of cases are due to sporadic mutations. ATP-sensitive potassium channels located in the beta cells of the pancreas play a major role in insulin secretion and blood glucose homeostasis. Mutations that alter the function of these channels may lead to NDM. We report a case of a 26-year-old Irish woman who was diagnosed with NDM at the age of 4 weeks and treated as type 1 diabetes mellitus, with multiple daily injections of insulin with suboptimal glycaemic control and frequent episodes of hypoglycaemic. She underwent genetic testing for NDM and was diagnosed with a KCNJ11 gene mutation. She was transitioned to high dose glibenclamide at the age of 16 years, but the trial failed due to poor glycaemic control and patient preference, and she was restarted on insulin. At 24 years of age, she was successfully transitioned from insulin (total daily dose 50 units) to high dose sulfonylurea (SU) (glibenclamide 15 mg twice daily). This resulted in optimal control of blood glucose (HbA1C fell from 63 to 44 mmol/mol), lower rates of hypoglycaemic and better quality of life. This case demonstrates that a second trial of SU in later life may be successful.


Assuntos
Diabetes Mellitus , Canais de Potássio Corretores do Fluxo de Internalização , Adulto , Diabetes Mellitus/tratamento farmacológico , Diabetes Mellitus/genética , Feminino , Humanos , Hipoglicemiantes/uso terapêutico , Insulina , Mutação , Canais de Potássio Corretores do Fluxo de Internalização/genética , Qualidade de Vida , Compostos de Sulfonilureia/uso terapêutico , Adulto Jovem
2.
J Med Case Rep ; 15(1): 108, 2021 Mar 03.
Artigo em Inglês | MEDLINE | ID: mdl-33653380

RESUMO

BACKGROUND: Hypothyroidism is diagnosed on the basis of laboratory tests because of the lack of specificity of the typical clinical manifestations. There is conflicting evidence on screening for hypothyroidism. CASE PRESENTATION: We report a case of an apparently healthy 19-year-old Kuwaiti woman referred to our clinic with an incidental finding of extremely high thyroid-stimulating hormone (TSH), tested at the patient's insistence as she had a strong family history of hypothyroidism. Despite no stated complaints, the patient presented typical symptoms and signs of hypothyroidism on evaluation. Thyroid function testing was repeated by using different assays, with similar results; ultrasound imaging of the thyroid showed a typical picture of thyroiditis. Treatment with levothyroxine alleviated symptoms and the patient later became biochemically euthyroid on treatment. CONCLUSION: There is controversy regarding screening asymptomatic individuals for hypothyroidism; therefore, it is important to maintain a high index of suspicion when presented with mild signs and symptoms of hypothyroidism especially with certain ethnic groups, as they may be free of the classical symptoms of disease.


Assuntos
Hipotireoidismo/diagnóstico , Tireoidite Autoimune/diagnóstico , Alopecia/fisiopatologia , Apetite , Autoanticorpos/imunologia , Constipação Intestinal/fisiopatologia , Depressão/fisiopatologia , Fadiga/fisiopatologia , Feminino , Humanos , Hipotireoidismo/sangue , Hipotireoidismo/tratamento farmacológico , Hipotireoidismo/fisiopatologia , Achados Incidentais , Iodeto Peroxidase/imunologia , Menorragia/fisiopatologia , Índice de Gravidade de Doença , Glândula Tireoide/diagnóstico por imagem , Tireoidite Autoimune/sangue , Tireoidite Autoimune/imunologia , Tireoidite Autoimune/fisiopatologia , Tireotropina/sangue , Tiroxina/sangue , Tiroxina/uso terapêutico , Ultrassonografia , Ganho de Peso , Adulto Jovem
3.
BMJ Case Rep ; 13(9)2020 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-32933905

RESUMO

A 25-year-old woman brought to the hospital with symptoms of acute confusion, disorientation, diplopia, hearing loss and unsteady gait which started 4 days prior to her presentation with rapid worsening in its course until the day of admission. She had a surgical history of laparoscopic sleeve gastrectomy 2 months earlier which was complicated by persistent vomiting around one to three times per day. She lost 30 kg of her weight over 2 months and was not compliant to vitamin supplementation. CT of the brain was unremarkable. Brain MRI was done which showed high signal intensity lesions involving the bilateral thalamic regions symmetrically with restricted diffusion on fluid-attenuated inversion recovery imaging. Other radiological investigations, such as magnetic resonance venography and magnetic resonance angiography of the brain were unremarkable. An official audiogram confirmed the sensorineural hearing loss. A diagnosis of Wernicke's encephalopathy due to thiamin deficiency post-sleeve gastrectomy was made based on the constellation of her medical background, clinical presentation and further supported by the distinct MRI findings. Consequently, serum thiamin level was requested and intravenous thiamin 500 mg three times per day for six doses was started empirically, then thiamin 250 mg intravenously once daily given for 5 more days. Marked improvement in cognition, eye movements, strength and ambulation were noticed soon after therapy. She was maintained on a high caloric diet with calcium, magnesium oxide, vitamin D supplements and oral thiamin with successful recovery of the majority of her neurological function with normal cognition, strength, reflexes, ocular movements, but had minimal resolution of her hearing deficit. Serum thiamin level later was 36 nmol/L (67-200).


Assuntos
Gastrectomia/efeitos adversos , Perda Auditiva/etiologia , Complicações Pós-Operatórias/etiologia , Encefalopatia de Wernicke/complicações , Adulto , Feminino , Gastrectomia/métodos , Humanos , Encefalopatia de Wernicke/diagnóstico
4.
Artigo em Inglês | MEDLINE | ID: mdl-31566188

RESUMO

Summary: Measurement of glycated haemoglobin (HbA1c) has been utilised in assessing long-term control of blood glucose in patients with diabetes, as well as diagnosing diabetes and identifying patients at increased risk of developing diabetes in the future. HbA1c reflects the level of blood glucose to which the erythrocyte has been exposed during its lifespan, and there are a number of clinical situations affecting the erythrocyte life span in which HbA1c values may be spuriously high or low and therefore not reflective of the true level of glucose control. In the present case series, we describe the particulars of three patients with diabetes who had spuriously low HbA1c levels as a result of dapsone usage. Furthermore, we discuss the limitations of HbA1c testing and the mechanisms by which it may be affected by dapsone in particular. Learning points: Various conditions and medications can result in falsely low HbA1c. Dapsone can lead to falsely low HbA1c by inducing haemolysis and by forming methaemoglobin. Capillary glucose measurement, urine glucose measurements and fructosamine levels should be used as alternatives to HbA1c for monitoring glycaemic control if it was falsely low or high.

5.
Artigo em Inglês | MEDLINE | ID: mdl-28924479

RESUMO

Markedly elevated androgen levels can lead to clinical virilization in females. Clinical features of virilization in a female patient, in association with biochemical hyperandrogenism, should prompt a search for an androgen-producing tumor, especially of ovarian or adrenal origin. We herein report the case of a 60-year-old woman of Pakistani origin who presented with the incidental finding of male pattern baldness and hirsutism. Her serum testosterone level was markedly elevated at 21 nmol/L (normal range: 0.4-1.7 nmol/L), while her DHEAS level was normal, indicating a likely ovarian source of her elevated testosterone. Subsequently, a CT abdomen-pelvis was performed, which revealed a bulky right ovary, confirmed on MRI of the pelvis as an enlarged right ovary, measuring 2.9 × 2.2 cm transaxially. A laparoscopic bilateral salpingo-oophorectomy was performed, and histopathological examination and immunohistochemistry confirmed the diagnosis of a Leydig cell tumor, a rare tumor accounting for 0.1% of ovarian tumors. Surgical resection led to normalization of testosterone levels. LEARNING POINTS: Hirsutism in postmenopausal women should trigger suspicion of androgen-secreting tumorExtremely elevated testosterone level plus normal DHEAS level point toward ovarian sourceLeydig cell tumor is extremely rare cause of hyperandrogenicity.

6.
Saudi Med J ; 38(6): 654-656, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28578446

RESUMO

Adrenal infarction in pregnancy is an extremely rare event. We report a case of a 29-year-old pregnant woman at the twenty-fourth week of gestation that presented with an acute episode of severe localized right upper quadrant pain. Her preliminary blood investigations and abdominal ultrasonography were essentially unremarkable. A diagnosis of right adrenal infarction was subsequently established on the basis of a non-enhanced swollen right adrenal gland on CT scanning of the abdomen with contrast, consistent with the clinical presentation. She was treated with subcutaneous low molecular weight heparin (LMWH) until 2 weeks postpartum. A thrombophilia screen post-partum revealed a significantly elevated factor VIII level and a hypercoagulable state that justified prolonged anticoagulation. This case highlights the importance of a high index of suspicion for adrenal infarction in pregnancy on the clinical grounds of otherwise unexplained acute abdominal pain accompanied by suggestive radiological findings, especially in the presence of thrombophilia.


Assuntos
Doenças das Glândulas Suprarrenais/complicações , Fator VIII/metabolismo , Complicações na Gravidez/sangue , Doenças das Glândulas Suprarrenais/diagnóstico por imagem , Adulto , Feminino , Humanos , Gravidez , Complicações na Gravidez/diagnóstico por imagem
7.
J Saudi Heart Assoc ; 27(1): 57-60, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25544823

RESUMO

Acute myocardial infarction (AMI) is usually seen in the setting of atherosclerosis and its associated risk factors. Myocardial infarction in the young poses a particular challenge, as the disease is less likely, due to atherosclerosis. We report the case of a 37-year-old female patient who presented with ST segment elevation anterolateral AMI. The only abnormality on routine blood investigation was raised hemoglobin and hematocrit. After further testing, she was diagnosed according to the World Health Organization (WHO) criteria with polycythemia vera. This case illustrates the importance of recognizing polycythemia vera as an important cause of thrombosis, which can present initially as AMI, and to emphasize the early recognition of the disease in order to initiate appropriate management strategies.

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