RESUMO
Although adult spontaneous (non-diabetic) hypoglycaemia is rare, its recognition is important for the preventative or curative treatment of the underlying cause. Establishing Whipple's triad-low blood glucose, neuroglycopaenia and resolution of neuroglycopaenia on increasing blood glucose levels to normal or above-is essential to verify hypoglycaemia. Awareness that hypoglycaemia may occur in severely ill patients is important for its prevention. Further investigation in such cases is unnecessary unless another cause of hypoglycaemia is suspected. Patients are often asymptomatic and normoglycaemic at review. Their history of medication, self-medication, access to hypoglycaemic drugs, alcohol use and comorbidity may provide aetiological clues. The investigation involves obtaining blood samples during symptoms for laboratory glucose measurement or provoking fasting or postprandial hypoglycaemia as directed by symptoms. If confirmed, insulin, c-peptide, proinsulin and beta-hydroxybutyrate are analysed in hypoglycaemic samples. These will classify hypoglycaemia due to non-ketotic hyperinsulinaemia, non-ketotic hypoinsulinaemia and ketotic hypoinsulinaemia, and direct investigations to identify the underlying cause. There are, however, many pitfalls that may mislabel healthy individuals as "hypoglycaemic" or misdiagnose treatable or preventable causes of spontaneous hypoglycaemia. Clinical acumen and appropriate investigations will mostly identify hypoglycaemia and its cause.
RESUMO
Patients with succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency and 3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency are at increased risk of developing metabolic acidosis and hypoglycemia during pregnancy, delivery, and postpartum period. This can be fatal if not treated appropriately. Pregnancy in such patients should be managed in a specialist center by a multidisciplinary team including metabolic physician, high-risk obstetrician, and metabolic dietician. We report two pregnancies in women with SCOT deficiency and HMG-CoA lyase deficiency, which were successfully managed at this tertiary care center. The patient with SCOT deficiency had recurrent ketoacidosis due to severe nausea and vomiting requiring several hospital admissions during pregnancy, while the patient with HMG-CoA lyase deficiency remained metabolically stable. Both patients, nevertheless, had normal delivery of live-born infants and had uneventful postpartum period.
RESUMO
We report an unusual case of recurrent encephalopathy due to acquired hemophagocytic lymphohistiocytosis (HLH) in a patient with propionic acidemia (PA). PA is an inherited metabolic disorder in which patients often present with encephalopathy and pancytopenia during metabolic decompensation. However, these patients may rarely develop HLH with similar presentation. This case illustrates the need to distinguish HLH induced encephalopathy from the one secondary to metabolic decompensation in these patients, as early diagnosis and treatment of HLH improves prognosis. This case also highlights the importance of considering HLH in patients presenting with unexplained encephalopathy, as early diagnosis and treatment is lifesaving in this otherwise lethal condition. To our knowledge this is the first case report of acquired HLH presenting as recurrent encephalopathy followed by complete recovery, in a metabolically stable patient with PA.
RESUMO
Biotin or vitamin B7 when ingested in high doses may cause immunoassay interference leading to false potentially misleading results. It is important that clinicians should always interpret laboratory results in the context of patient's clinical state as erroneous results may lead to misdiagnosis and injudicious treatment with adverse patient outcome.
