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


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.

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
J Med Case Rep ; 15(1): 108, 2021 Mar 03.
Artigo em Inglês | MEDLINE | ID: mdl-33653380


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.

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
BMJ Case Rep ; 13(9)2020 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-32933905


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).

Gastrectomia/efeitos adversos , Perda Auditiva/etiologia , Complicações Pós-Operatórias/etiologia , Encefalopatia de Wernicke/complicações , Adulto , Feminino , Gastrectomia/métodos , Humanos , Encefalopatia de Wernicke/diagnóstico