Lactation ketoacidosis is a rare yet severe metabolic emergency that has been reported in breastfeeding mothers. Reduced carbohydrate intake during breastfeeding has been reported as a common trigger for ketoacidosis. We report the case of a 31-year-old mother without diabetes who presented with life-threatening lactation ketoacidosis after following a ketogenic diet while exclusively breastfeeding her newborn baby. She was managed in the intensive care unit with dextrose and insulin infusion to reverse ketoacidosis. With prompt treatment, the patient's ketoacidosis resolved within 24 hours, and she was discharged well 3 days later. We further discuss the underlying increased metabolic demand in lactating women that puts them at risk of ketoacidosis, underlining the importance of early recognition of lactation ketoacidosis and nutritional education for lactating women.
A 31-year-old gentleman presented with clinical hyperthyroidism, goiter, bitemporal hemianopia, and discordant thyroid function test. The high α-subunit and absence of throtropin (thyroid-stimulating hormone; TSH) response to thyrotropin-releasing hormone stimulation indicated a TSH-secreting pituitary tumor. Elevation in prolactin and growth hormone as well as secondary hypogonadism were also observed. A sellar-suprasellar mass displacing the optic chiasm was revealed upon magnetic resonance imaging. The patient was rendered euthyroid with carbimazole and Lugol's iodine before undergoing endoscopic transsphenoidal surgery. Due to the incomplete tumor excision during surgery, patient experienced recurrence of symptoms and rising thyroxine (T4) with nonsuppressed TSH. The histopathology examination demonstrated a plurihormonal tumor with positive immunohistochemical stain for TSH, growth hormone, and prolactin, with invasive and proliferative features. Subsequently he was initiated with a long-acting somatostatin analogue and underwent stereotactic radiosurgery. To date, his symptoms have improved, with a reduction of insulin-like growth factor 1 and normalization of other pituitary hormones as well as a slightly reduced size of the pituitary tumor.
Niemann-Pick disease (NPD) is a heterogeneous group of lysosomal storage disorders with autosomal recessive inheritance pattern. There are 4 types of NPD. Patients with NPD type B generally have better prognosis, allowing them to survive into adulthood. They have a widespread clinical presentation, affecting multiple organs but rarely neurological involvement. Here, we describe the case of a 38-year-old woman with unexplained hepatosplenomegaly and young hypertensive intracranial bleed. Evaluation for young hypertension further revealed a nonfunctional bilateral adrenal mass and gross hepatosplenomegaly. NPD was confirmed through dried blood spot investigation. It showed low activity of acid sphingomyelinase and genetic testing also detected 2 pathogenic mutations. She is being managed by a multidisciplinary team for supportive treatment that includes regular symptoms monitoring and genetic counseling.