Diabetic ketoacidosis, hyperuricemia and encephalopathy intractable to regular-dose insulin.

BACKGROUND: Diabetic ketoacidosis (DKA) in children less than 1 year of age is a rare occurrence. Typical presentation includes a prodrome of weight loss and polyuria with subsequent presentation to medical care when acidosis becomes symptomatic. CASE PRESENTATION: We describe an unusual case of a previously healthy infant with a 3 days' history of constipation, presenting acutely with abdominal pain, lethargy, and dehydration. On initial evaluation, our patient had profound encephalopathy, with marked tachypnea and work of breathing. Arterial blood gas revealed a pH of 6.9, pCO2 of 20 and a bicarbonate level of <5. There was profound leukocytosis (WBC 77 K/µL), hyperuricemia (uric acid 15.9 mg/dL), and evidence of pre-renal azotemia [blood urea nitrogen (BUN) 54, Cr 0.82]. Blood glucose was >700 mg/dL. Despite fluid resuscitation and insulin infusion of 0.1 unit/kg/h, which are the mainstays of therapy for DKA, her severe metabolic acidosis and altered mental status did not improve. Differential diagnosis for her metabolic derangements included inborn errors of metabolism, insulin receptor defects, toxic ingestions, and septic shock secondary to an underlying oncologic or intra-abdominal process. The patient was treated with broad spectrum antibiotics and rasburicase. She continued to have significant shock for the first 30 h of her hospital stay, requiring moderate vasoactive support. Due to her refractory acidosis and persistent hyperglycemia, insulin infusion was increased to 0.15 units/kg/h. A hemoglobin A1C obtained on the second hospital day revealed a level of 7.4 and helped to solidify the diagnosis. CONCLUSIONS: Metabolic acidosis in an infant requires a broad differential. Rasburicase should be considered in hyperuricemia and DKA.

A Newborn with Transient Diabetes Mellitus Accompanied by Ketoacidosis Attributable to a ZFP57 Mutation.

Hyperglycemia commencing within the first 6 months of life requires exogenous insulin therapy and, if the condition persists for >2 weeks, is termed neonatal diabetes mellitus (NDM). This rare illness is of two types: transient and permanent NDM. Most cases come to medical attention because of nonspecific symptoms, including intrauterine growth retardation, dehydration, difficulties in feeding and inadequate weight gain. In the present article, we describe an infant who smelt of ketones during examination and who was diagnosed with transient NDM caused by a ZFP57 mutation, accompanied by ketoacidosis. This is the first report of such a condition.

Permanent neonatal diabetes mellitus - a case report of a rare cause of diabetes mellitus in East Africa.

Diabetes mellitus is a metabolic disease characterised by chronically high glucose levels. Genetic factors have been implicated in the aetiology following mutations in a single gene. An extremely rare form of diabetes mellitus is monogenic diabetes, a subset of which is permanent neonatal diabetes, and is usually suspected if a child is diagnosed with diabetes at less than 6 months of age. We present the first case reported from East Africa of a child diagnosed with permanent neonatal diabetes resulting from a mutation in the KCNJ11 gene encoding the Kir6.2 subunit. Despite the rarity of permanent neonatal diabetes, this diagnosis should be considered in infants with persistent hyperglycaemia requiring insulin therapy. Children with an ATP-sensitive potassium channel defect in the pancreatic beta cell have an overall good prognosis when treated with oral sulphonylurea therapy.

Neonatal diabetes mellitus accompanied by diabetic ketoacidosis and mimicking neonatal sepsis: a case report.

Neonatal diabetes mellitus (DM) develops within the first six weeks of life with basic findings including dehydration, hyperglycaemia, and mild or no ketonemia/ketonuria. It can be either transient or permanent. Here, we report a case of a one-month-old infant with permanent neonatal diabetes, due to pancreatic hypoplasia, accompanied by diabetic ketoacidosis (DKA). The hyperglycaemia and ketoacidosis resolved by the 14(th) hour of treatment, consisting of IV insulin and rehydration. Subsequently, insulin treatment was continued with neutral protamine hagedorn (NPH) insulin. Breastfeeding was started and was continued at intervals of three hours. Following initiation of breastfeeding, the stools became watery, loose, yellow-green in color, and frequent (8-10 times a day). They contained no blood or mucus. Replacement of pancreatic enzymes resulted in decreased stool frequency. Neonatal DM due to pancreatic hypoplasia and associated with DKA may mimic sepsis and should be kept in mind in all newborns who present with fever, dehydration, and weight loss.