Successful Multimodal Treatment of an IGF2-Producing Solitary Fibrous Tumor With Acromegaloid Changes and Hypoglycemia

Doege–Potter syndrome with acromegaloid facial changes is extremely rare. Uncooked cornstarch along with glucocorticoids have been used as supportive care in patients with non–islet cell tumor hypoglycemia (NICTH). Preoperative embolization of hepatic solitary fibrous tumors (SFT) with NICTH has yielded unsatisfactory results. Herein we present the case of a 61-year-old man with a 3-month history of severe frequent hypoglycemic episodes and acromegaloid facial changes. During a spontaneous hypoglycemia (26 mg/dL), laboratory values showed a hypoinsulinemic pattern with low levels of GH, IGFPB3, and an IGF2/IGF1 ratio of 8.5:1. Cross-sectional imaging revealed a large (16 × 13 × 11 cm) hepatic tumor, and cytology was consistent with SFT. A preoperative right portal embolization was performed in an effort to induce normal remnant liver hypertrophy to allow for safe tumor resection. After the procedure, uncooked starch treatment followed by prednisone was started, achieving complete remission of hypoglycemic episodes in the preoperative setting. He subsequently underwent partial hepatectomy. The histologic diagnosis was compatible with a potentially malignant SFT. The patient had an excellent outcome with complete remission of hypoglycemia, improvement of facial acromegaloid changes, and no further evidence of disease. To our knowledge, this is the first case of a patient with Doege–Potter syndrome with acromegaloid facial changes induced by a potentially malignant liver SFT, treated successfully with a multimodal approach consisting of uncooked cornstarch, low-dose prednisone, preoperative embolization, and complete surgical resection. The use of cornstarch and low-dose glucocorticoids may be an adequate treatment in advance of undergoing surgery.

A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients

Background Glycogen storage disease type III (GSDIII), due to a deficiency of glycogen debrancher enzyme (GDE), is particularly frequent in Tunisia. Phenotypic particularities of Tunisian patients remain unknown. Our aim was to study complications of GSDIII in a Tunisian population and to explore factors interfering with its course. Methods A retrospective longitudinal study was conducted over 30 years (1986–2016) in the referral metabolic center in Tunisia. Results Fifty GSDIII patients (26 boys), followed for an average 6.75 years, were enrolled. At the last evaluation, the median age was 9.87 years and 24% of patients reached adulthood. Short stature persisted in eight patients and obesity in 19 patients. Lower frequency of hypertriglyceridemia (HTG) was associated with older patients (p<0.0001), higher protein diet (p=0.068) and lower caloric intake (p=0.025). Hepatic complications were rare. Cardiac involvement (CI) was frequent (91%) and occurred early at a median age of 2.6 years. Severe cardiomyopathy (50%) was related to lower doses of uncooked cornstarch (p=0.02). Neuromuscular involvement (NMI) was constant, leading to a functional discomfort in 64% of cases and was disabling in 34% of cases. Severe forms were related to lower caloric (p=0.005) and protein intake (p<0.015). Conclusions A low caloric, protein and uncooked cornstarch intake is associated with a more severe outcome in GSDIII Tunisian patients. Neuromuscular and CIs were particularly precocious and severe, even in childhood. Genetic and epigenetic factors deserve to be explored.