Objective: To report a case of Mauriac syndrome. Methods: A 14-year old F patient was referred to our Clinic for poor glycemic control and progressive insulin resistance. She was diagnosed with T1DM at 8 years old. After the first 2 years of MDI she underwent CSII due to progressive increase in insulin requirement (0.66->1.46 units/kg). However compliance was very poor and led the patient to be frequently hospitalized (2 DKA) and soon after to replace the therapy back. In spite of frequent manipulations in insulin dosing,our patient showed progressive worsening of metabolic control (HbA1c 8.72->10.9%) and follow-up drop-out. In March 2015 she was referred to our clinic for a further worsening of glycemic control. Results: Height,weight and BMI resulted below than 3rdcentile for age (respectively 146.2 cm/34.1 kg/16 kg/m2). She had delayed puberty (B2,PH1). Laboratory investigations described increased liver enzymes (ASAT/ALAT/GGT:590/435/328 U/L),elevated lactate level (72 mg/dl) and IGF-1 < 3rd centile. Abdominal ultrasound revealed hepatomegaly with steatohepatosis. Pelvic features confirmed prepubertal status. Microalbuminuria and retina examination were normal. During hospitalization our patient started psychological interviews, which revealed her disease refusal (frequently skipped insulin injections, uncontrolled snacks and glycemic controls performed to friends in order to simulate adequate compliance). Investigations about hepatomegaly excluded infectious diseases, autoimmune, metabolic, obstructive and oncologic causes. Coeliac disease screening was negative. DXA demonstrated Zscore -3,2. Brain MRI was normal. After 2 weeks we observed a significant reduction of HbA1c (7.9%), ASAT and ALAT (140/219 U/L). Conclusions: According to the presented data we confirmed the presence of Mauriac syndrome. This is a rare complication related to under-insulinisation. It includes short stature, glycogen laden enlarged liver, limited joint mobility, tight waxy skin and delayed puberty.

A rare complication of T1DM in a female teenager: Mauriac syndrome?

MUSOLINO, GIANLUCA;CIANCI, PAOLA;TRETTENE, ADOLFO ANDREA;CARDANI, ROBERTA;SALVATONI, ALESSANDRO
2015-01-01

Abstract

Objective: To report a case of Mauriac syndrome. Methods: A 14-year old F patient was referred to our Clinic for poor glycemic control and progressive insulin resistance. She was diagnosed with T1DM at 8 years old. After the first 2 years of MDI she underwent CSII due to progressive increase in insulin requirement (0.66->1.46 units/kg). However compliance was very poor and led the patient to be frequently hospitalized (2 DKA) and soon after to replace the therapy back. In spite of frequent manipulations in insulin dosing,our patient showed progressive worsening of metabolic control (HbA1c 8.72->10.9%) and follow-up drop-out. In March 2015 she was referred to our clinic for a further worsening of glycemic control. Results: Height,weight and BMI resulted below than 3rdcentile for age (respectively 146.2 cm/34.1 kg/16 kg/m2). She had delayed puberty (B2,PH1). Laboratory investigations described increased liver enzymes (ASAT/ALAT/GGT:590/435/328 U/L),elevated lactate level (72 mg/dl) and IGF-1 < 3rd centile. Abdominal ultrasound revealed hepatomegaly with steatohepatosis. Pelvic features confirmed prepubertal status. Microalbuminuria and retina examination were normal. During hospitalization our patient started psychological interviews, which revealed her disease refusal (frequently skipped insulin injections, uncontrolled snacks and glycemic controls performed to friends in order to simulate adequate compliance). Investigations about hepatomegaly excluded infectious diseases, autoimmune, metabolic, obstructive and oncologic causes. Coeliac disease screening was negative. DXA demonstrated Zscore -3,2. Brain MRI was normal. After 2 weeks we observed a significant reduction of HbA1c (7.9%), ASAT and ALAT (140/219 U/L). Conclusions: According to the presented data we confirmed the presence of Mauriac syndrome. This is a rare complication related to under-insulinisation. It includes short stature, glycogen laden enlarged liver, limited joint mobility, tight waxy skin and delayed puberty.
Musolino, Gianluca; Cianci, Paola; Trettene, ADOLFO ANDREA; Cardani, Roberta; Salvatoni, Alessandro
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11383/2062409
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