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Endocrinology and gonads
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
11.17. A 4-year-old boy presents with drowsiness, hyperpnoea and vomiting. He has been unwell for several days. Acetone can be smelt on his breath and the urine contains sugar in large quantities. Other clinical signs and symptoms associated with this disorder includeantecedent increase in thirst.antecedent weight loss.moderate to severe dehydration.constipation.Kussmaul breathing (deep sighing respiration).
Multiple carboxylase deficiency/holocarboxylase synthetase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
In the acute episode of illness, the infant has massive ketosis and metabolic acidosis with an anion gap. There may be tachypnea or Kussmaul breathing. Concentrations of ammonia in the blood may be elevated. The episode may progress to dehydration, deep coma, and, unless vigorously treated, death. There is documentation of a number of patients who have died of this disease [11–21]. In fact, the initial episode may be lethal within hours of birth [11].
Endocrine emergencies with skin manifestations
Published in Biju Vasudevan, Rajesh Verma, Dermatological Emergencies, 2019
In DKA, patients present with poor skin turgor, tachycardia, and hypotension. There may be a fruity odor to the breath due to ketosis as well as Kussmaul breathing. Patients with HHS can present with focal neurological signs, seizures, and coma. The dermatological manifestations might serve as an indicator of diabetes mellitus in such patients.
COVID-19 and hyperglycaemic emergencies: perspectives from a developing country
Published in Journal of Endocrinology, Metabolism and Diabetes of South Africa, 2022
Raisa Bhikoo, Marli Conradie-Smit, Gerhard Van Wyk, Sa’ad Lahri, Elizabeth Du Plessis, Jaco Cilliers, Susan Hugo, Ankia Coetzee
Clinical examination revealed an acutely unwell patient, with Kussmaul breathing and tachypnoea. The oxygen saturation was 83% in ambient air with a BP of 153/100 mmHg and a sinus tachycardia (HR 127 bpm). Fingerpick glucose was 27 mmol/l. She had marked central obesity but did not have an accurate BMI available. Fine bi-basal inspiratory crackles were audible on chest auscultation with no signs indicative of left ventricular dysfunction. Her GCS fluctuated between 12 and 14 with no lateralising signs.
Severe methanol intoxication with atypical symptoms and imaging changes: a fatal case report
Published in British Journal of Neurosurgery, 2023
A 51-year-old male was admitted with sudden onset of dizziness for two days. He denied recurrent postural dizziness and any headache, nausea, vomiting, abdominal pain, blurred vision, slurred speech, fever, or chills. Neurological examination and computed tomography of brain showed no obvious abnormalities. The diagnosis of posterior circulation ischemia was considered. Two hours later, the patient suddenly developed delirium progressing to coma. Meanwhile, he experienced frequent twitching of the limbs and facial cyanosis. He developed bilateral unreactive pupil dilation. As the condition rapidly progressed, a diagnosis of aneurysm rupture was considered but CT angiography (CTA) indicated no significant abnormalities. At this point the patient developed Kussmaul breathing and hypothermia and a further history of long-term drinking became available. Fundus examination revealed oedematous optic disks with dilated peripapillary vessels and arterial blood gas analysis showed a high anion-gap metabolic acidosis (pH 6.71, PCO2 34.2 mmHg, HCO3– 4.2 mmol/l, Cl– 103mmol/l, K+ 6.5mmol/l). Therefore acute methanol intoxication was suspected and a blood sample was sent for Centers for Disease Control (CDC) measuring the serum methanol level, which was high (450 mg/L, reference level<2.9 mg/L). He was transferred to intensive care unit and intubated. Hemodialysis was initiated to help correct the severe acidosis and eliminate both methanol and its metabolites (formic acid or formate). After hemodialysis, the methanol level fell to 17mg/L. But his conscious level deteriorated to a Glasgow Coma Scale of 3 with pupils dilated and fixed. CT brain demonstrated extensive subarachnoid hemorrhage, diffuse cerebral edema, lateral ventricular compression and ambient cistern effacement (Figure 1). Hemodialysis was continued until methanol was undetectable. Unfortunately, the patient’s condition did not improve and he died on the ninth day due to cardiopulmonary arrest.