Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia
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CASE REPORT
Open Access
Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia Hiba Al-Zubeidi1,2, Michael E Gottschalk1,2 and Ron S Newfield1,2*
Abstract Introduction: Hyperinsulinism associated with Beckwith-Wiedemann syndrome (BWS) can occur in about 50% of cases, causing hypoglycemia of variable severity. Parenteral use of octreotide may be indicated if unresponsive to diazoxide. There is limited data on use of octreotide in BWS. Objective: Chart review describing 2 cases with BWS and hypoglycemia treated with long acting Octreotide as a monthly injection. Cases: We describe two unrelated females born large for gestational age found to have clinical features consistent with BWS, who developed severe hypoglycemia. Genetic diagnosis of BWS was confirmed. The first patient was born at 37 weeks and developed hypoglycemia shortly after birth. She was initially started on diazoxide but developed pulmonary congestion and was therefore switched to depot octreotide (LAR). She maintained euglycemia with LAR. In the second patient (born at 26-4/7 weeks), onset of hypoglycemia was delayed till 11 weeks of age due to hydrocortisone (indicated hemodynamically) and continuous feeding, and was partially responsive to diazoxide. She was switched to octreotide 4 times daily, treated till at age 18 months. Despite frequent feeds, she required treatment again between ages 4–6.5 years, initially with diazoxide but due to severe hypertrichosis she was switched to LAR with an excellent response. Both patients treated with LAR for over two years achieved euglycemia above 70 mg/dl and had normal height gain, without side effects. Conclusion: Successful treatment of hypoglycemia can be achieved and maintained with LAR in infants and children with BWS who are either resistant or cannot tolerate diazoxide. Keywords: Hypoglycemia, Hyperinsulinism, Beckwith-Wiedemann syndrome
Background Beckwith-Wiedemann syndrome (BWS) is a genetic disorder and is the most common overgrowth syndrome in infancy with an incidence of 1:13,700 births. It is characterized by commonly having one or more of the following: macrosomia, macroglossia, hemihypertrophy, omphalocele, ear creases/pits and predisposition for childhood tumors [1]. Hyperinsulinism associated with BWS can occur in about 50% of cases, causing hypoglycemia of variable severity [2]. In 20% it can be more severe and prolonged [3,4]. BWS is associated with abnormal regulation of gene * Correspondence: [email protected] 1 Pediatrics, Rady Children's Hospital San Diego, MC5103, 3020 Children’s Way, San Diego, CA 92123-4282, USA 2 Pediatrics, University of California, San Diego, San Diego, CA, USA
transcription in 2 imprinted domains on chromosome 11p15.5. Regulation may be disrupted by numerous mechanisms [5,6]. While the different genetic defects causing BWS have been correlated with the risk of tumor genesis and some dysmorphic features there has been no significant differences between BWS molecular subgroups and the frequencies of ne
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