RESUMEN
Berardinelli-Seip Congenital Lipodystrophy (BSCL), also known as congenital generalised lipodystrophy, is a genetic disorder where there is an absolute deficiency of adipose tissue. It affects the development of adipocytes and ultimately leads to an inability to store fat in adipocytes. It is extremely rare. Most of the cases reported are from Africa and North America. Only a handful of cases have been reported in the world. The aim of this case report is to highlight the significance of this rare metabolic disorder, which should be considered whilst managing young patients with severe insulin resistance. We present a case of a young Asian child with an increasing need for insulin for his diabetes. He was previously managed on the lines of type 1 diabetes mellitus and his insulin requirements kept on increasing. Diagnosis on the basis of genetic studies was not possible due to the non-availability of the test in Pakistan. BSCL is an infrequent condition leading to several cardiometabolic complications. Timely diagnosis can lead to better management and prevention of complications. Keywords: Insulin resistance, Lipodystrophy, Acanthosis nigricans, Hypertriglyceridemia, Genetic disease.
Asunto(s)
Acantosis Nigricans , Resistencia a la Insulina , Lipodistrofia Generalizada Congénita , Niño , Humanos , Insulina/uso terapéutico , Lipodistrofia Generalizada Congénita/complicaciones , Lipodistrofia Generalizada Congénita/diagnóstico , Lipodistrofia Generalizada Congénita/genética , Masculino , Enfermedades RarasRESUMEN
In some patients undiagnosed diabetes may present with metabolic complications of diabetes as their initial presentation. Suboptimal glycaemic control in diagnosed and undiagnosed diabetes can cause hypertriglyceridaemia which can cause pancreatitis. In patients presenting with pancreatitis where common causes of pancreatitis are excluded hypertriglyceridaemia should be considered as a cause and hence their lipid profile should be evaluated. If hypertriglyceridaemia is confirmed, then such a patient should be screened for diabetes. We present three cases presenting to hospital with pancreatitis secondary to hypertriglyceridaemia. Hypertriglyceridaemia in all three were secondary to undiagnosed and uncontrolled type 2 diabetes. Early treatment of hypertriglyceridaemia can prevent morbidity and mortality. Diagnosing type 2 diabetes in this context can result in optimisation of glycaemic control, and hence improve hypertriglyceridaemia and reduce the risk of recurrent attacks of pancreatitis.
Asunto(s)
Diabetes Mellitus Tipo 2 , Hipertrigliceridemia , Pancreatitis , Enfermedad Aguda , Diabetes Mellitus Tipo 2/complicaciones , Humanos , Hipertrigliceridemia/complicaciones , Hipertrigliceridemia/diagnóstico , Pancreatitis/diagnóstico , Pancreatitis/etiologíaRESUMEN
Thyrotoxic periodic paralysis is an uncommon disorder characterized by hypokalaemia, thyrotoxicosis and paralysis, most commonly seen in South Asian males. Aim of our case series is to highlight the significance of this reversible cause of patients presenting with neuromuscular paralysis. We present case series of 1 Asian and three Caucasian patients with thyrotoxic periodic paralysis who came with neuromuscular weakness secondary to thyrotoxicosis. All made a swift and uneventful recovery with no recurrence. Thyrotoxic periodic paralysis (TPP) is an infrequent condition having recurrent episodes of muscle weakness as main feature. Hypokalaemia is a common finding seen in these patients. Resolution of the attacks is achieved with correction of hypokalaemia and hyperthyroidism.
Asunto(s)
Hipertiroidismo/complicaciones , Hipopotasemia/complicaciones , Debilidad Muscular/etiología , Parálisis/etiología , Tirotoxicosis/etiología , Adulto , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Adulto JovenRESUMEN
Myxedema may be the first presentation of patients with undiagnosed hypothyroidism. Definitive management is with thyroid hormone but supportive measures, identification and treatment of precipitating factors in an appropriately safe environment are vital. There is no consensus about preferred thyroid hormone regimen. Corticosteroid therapy is given until adrenal insufficiency has been excluded. We present here a case of seventy-four years old woman of myxodema coma.
Asunto(s)
Coma , Mixedema , Anciano , Femenino , Humanos , Hipotiroidismo/complicaciones , Hipotiroidismo/tratamiento farmacológico , Hormonas Tiroideas/administración & dosificación , Hormonas Tiroideas/uso terapéuticoRESUMEN
BACKGROUND: Cushing's syndrome (CS) is a severe condition with excess mortality and significant morbidity necessitating control of hypercortisolemia. There are few data documenting use of the steroidogenesis inhibitor metyrapone for this purpose. OBJECTIVE: The objective was to assess the effectiveness of metyrapone in controlling cortisol excess in a contemporary series of patients with CS. DESIGN: This was designed as a retrospective, multicenter study. SETTING: Thirteen University hospitals were studied. PATIENTS: We studied a total of 195 patients with proven CS: 115 Cushing's disease, 37 ectopic ACTH syndrome, 43 ACTH-independent disease (adrenocortical carcinoma 10, adrenal adenoma 30, and ACTH-independent adrenal hyperplasia 3). MEASUREMENTS: Measurements included biochemical parameters of activity of CS: mean serum cortisol "day-curve" (CDC) (target 150-300 nmol/L); 9 am serum cortisol; 24-hour urinary free cortisol (UFC). RESULTS: A total of 164/195 received metyrapone monotherapy. Mean age was 49.6 ± 15.7 years; mean duration of therapy 8 months (median 3 mo, range 3 d to 11.6 y). There were significant improvements on metyrapone, first evaluation to last review: CDC (91 patients, 722.9 nmol/L [26.2 µg/dL] vs 348.6 nmol/L [12.6 µg/dL]; P < .0001); 9 am cortisol (123 patients, 882.9 nmol/L [32.0 µg/dL] vs 491.1 nmol/L [17.8 µg/dL]; P < .0001); and UFC (37 patients, 1483 nmol/24 h [537 µg/24 h] vs 452.6 nmol/24 h [164 µg/24 h]; P = .003). Overall, control at last review: 55%, 43%, 46%, and 76% of patients who had CDCs, UFCs, 9 am cortisol less than 331 nmol/L (12.0 µg/dL), and 9 am cortisol less than upper limit of normal/600 nmol/L (21.7 µg/dL). Median final dose: Cushing's disease 1375 mg; ectopic ACTH syndrome 1500 mg; benign adrenal disease 750 mg; and adrenocortical carcinoma 1250 mg. Adverse events occurred in 25% of patients, mostly mild gastrointestinal upset and dizziness, usually within 2 weeks of initiation or dose increase, all reversible. CONCLUSIONS: Metyrapone is effective therapy for short- and long-term control of hypercortisolemia in CS.
Asunto(s)
Síndrome de Cushing/tratamiento farmacológico , Inhibidores Enzimáticos/uso terapéutico , Metirapona/uso terapéutico , Adenoma Hipofisario Secretor de ACTH/tratamiento farmacológico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Relación Dosis-Respuesta a Droga , Quimioterapia Combinada , Inhibidores Enzimáticos/administración & dosificación , Inhibidores Enzimáticos/efectos adversos , Humanos , Hidrocortisona/sangre , Hidrocortisona/orina , Lactante , Masculino , Metirapona/administración & dosificación , Metirapona/efectos adversos , Persona de Mediana Edad , Neoplasias Hipofisarias/tratamiento farmacológico , Estudios Retrospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
Periodic paralysis is a muscle disorder that belongs to the family of diseases called channelopathies, manifested by episodes of painless muscle weakness. Periodic paralysis is classified as hypokalemic when episodes occur in association with low potassium levels. Most cases are hereditary. Acquired cases have been described in association with hyperthyroidism. Diagnosis is made on clinical and biochemical grounds. Patients may be markedly hypokalemic during the episode and respond well to potassium supplementation. Episodes can be prevented by achieving a euthyroid state. This report describes a young gentleman presenting with thyrotoxic hypokalemic paraparesis. The condition needs to be considered in the differential diagnosis of neuromuscular weakness in the context of hypokalemia by the treating physicians.