Síndrome de mauriac reporte de caso clínico / Mauriac syndrome clinical case report / Síndrome de mauriac relatório clínico do caso

RESUMEN Se presenta un caso de un niño de 11 años evaluado en el Hospital Niño Jesús de la ciudad de Barranquilla con características de síndrome de Mauriac; dicho síndrome está descrito como una complicación en pacientes con diagnostico de diabetes mellitus tipo I, que no se encuentran metabólicamente controlados y se caracteriza por presencia de hepatomegalias, elevación de transaminasas, retraso puberal y cambios físicos cuchingoides asociados. Son pocas las referencias bibliográficas publicadas en los últimos años, ya que su morbilidad es muy baja debido al auto monitoreo glucémico, la intervención de nuevas insulinas y diagnóstico precoz.

ABSTRACT It is shown a case of a 11 years old child examined in Niño Jesus' Hospital in Barranquilla city with signs of Mauriac's syndrome. That syndrome is describing as a complicacy in patients diagnosed with type 1 mellitus diabetes that aren't metabolically controlled and is characterized by a presence of hepatomegaly, elevation of transaminases, pubertal delay and physical changes cuchingoides related. There are not enough bibliographic references published in the last years because their morbidity is too low due to the glucemic self-monitoring, and the interference of new insulins and premature diagnosis.

RESUMO É mostrado um caso de uma criança de 11 anos examinada no Hospital Niño Jesus na cidade de Barranquilla com sinais de síndrome de Mauriac. Essa síndrome está descrevendo como um complicado em pacientes diagnosticados com diabetes mellitus tipo 1 que não são controlados metabólicamente e é caracterizada por presença de hepatomegalia, elevação de transaminases, atraso puberal e alterações físicas cuchingoides relacionadas. Não há referências bibliográficas suficientes publicadas nos últimos anos porque a sua morbidade é muito baixa devido ao auto-monitoramento glucêmico e à interferência de novas insulinas e diagnóstico prematuro.

Síndrome de Mauriac. A propósito de un caso clínico / Mauriac syndrome. Apropos of a clinical case

La diabetes mellitus tipo 1 (DM1) es la enfermedad crónica endocrinológica mas frecuente en pediatría y probablemente la de mayor repercusión sanitaria por la gravedad de sus complicaciones. El tratamiento, basado en insulinoterapia, alimentación y ejercicio, tiene como objetivo el control glucémico, garantizando la prevención de complicaciones y mejor calidad devida. La educación es la piedra angular en la atención del paciente diabético y la clave para un tratamiento exitoso. La máxima expresión de la DM1 mal controlada es el síndrome de Mauriac, integrado por talla baja, retraso puberal, hepatomegalia, fenotipo cushingoide y dislipidemia. Este síndrome constituye la causa más frecuente de disfunción hepática en niños y adolescentes con DM1 y puede revertir al optimizar eltratamiento. Se presenta el caso clínico de una adolescente de 14 años, portadora de DM1 de 8 años de evolución. Tenía mal control metabólico, con fallas en todos los pilares de su tratamiento diabetológico. Presentaba falla del crecimiento y del desarrollo puberal, hepatomegalia, hábito cushingoide y dislipemia, lo que configuraba un síndrome de Mauriac en su completa expresión. Estos signos se deben a hiperglucemia mantenida, déficit de insulina y activación de hormonas contrarreguladoras. El diagnóstico de este síndrome es clínico. El tratamiento se basa en el adecuado manejo diabetológico, que lleva al buen control metabólico. Todos los síntomas y signos revierten al lograr el control glucémico. Si este objetivo no se logra, se condiciona el pronóstico a mediano y largo plaz...

Mauriac Syndrome in a Patient with Type I Diabetes Mellitus

Mauriac syndrome consists of a triad of poorly controlled diabetes, profound growth retardation and hepatomegaly. We experienced a case of Mauriac syndrome in an 18-year-old girl who had poorly controlled diabetes mellitus, short stature, hepatomegaly and central obesity. Also at the time of examination, she had complications of diabetic cataract and nephropathy. Fourteen years prior to admission, she was diagnosed as diabetes mellitus at a hospital. Thereafter, she had been managed with irregular insulin injection. On physical examination at admission, her height was 135cm(<3 percentile) and her weight was 39kg(<3 percetile). She was short and obese. The liver was 5 cm palpable below the right subcostal margin. Her sexual maturation was Tanner stage I. On ophthalmologic examination, the cataracts were observed on both eyes and diabetic retinopathy was absent. Diabetic nephropathy could not be confirrned by kidney biopsy due to her mother's refusal. We studied the hormonal, radiographic and histological abnormalities. The hormonal study was normal and the bone age was by delayed as much as 10 years. The liver biopsy revealed glycogen accumulation in hepatocyte. She was consistent with Mauriac syndrome. She was managed by strict diabetic control with insulin therapy, diabetic diet and intensive education. She was discharged with well controlled blood glucose. Five months later, growth acceleration and sexual maturation have not been observed, but hepatomegaly subsided. (J Korean Pediatr Soc 2000;43-837-841)

A Case of Mauriac Syndrome / 대한소아내분비학회지

In 1930s, Mauriac described a syndrome in diabetic children consisting of stunted growth, hepatomegaly, and delayed puberty. This syndrome was related to poorly controlled diabetes of long duration. A 14-year-old girl, who had been diagnosed as insulin dependent diabetes mellitus three years ago but had not been well controlled for diabetes, visited to hospital because of short stature, delayed puberty, and visual disturbance. On physical exam her height was 146cm(<3 percentile) and her weight was 34kg(<3 percentile) and sexual maturation was delayed as Tanner stage I. The liver was 3FB palpable below the right subcostal margin. She had hyperglycemia and elevated plasma cortisol. She was diagnosed as Mauriac syndrome. On ophthalmologic examination, the cataracts were observed on both eyes and she had also peripheral neuropathy on lower extremities. Her blood glucose was controlled strictly by regular insulin during admission, and her weight was increased and hepatomegaly was improved at discharge, two months later. We report a case of Mauriac syndrome with a brief review and related literatures.

A Case of Mauriac's syndrome

Mauriac's syndrome was described in the 1920s, as a triad of poorly controlled insulin dependent diabetes mellitus, profound growth retardation, and hepatomgaly. Following the wide availability of insulin and intensification of diabetic control, this entity has become quite rare. A 9-year-old female child was transferred to pediatric OPD of SNUCH because of hyperglycemia, short stature, and visual disturbance. Five years prior to admission, she was diagnosed as diabetes mellitus at hospital due to polyuria, enuresis and polydipsia. However, she had been managed with irregular insulin injection and 1u of NPH once a day because of poor economic state and poor diabetic education. Two years ago, her mother noticed she had grown little and she had complainted poor vision. Since 1 year prior to admission, abdominal pain, vomiting, and diarrhea were developed twice, but subsided spontaneously without specific medication. On physical examination at admission, her height was 102 cm(< 3 percentile) and her weight was 16 kg(3-10 percentile). She was short and obese. The liver was 3FB palpable below the right subcostal margin. Limitation of motion of MP and PIP joints of left middle finger and right fourth finger were observed. On ophthalmologic examination, the cataracts were observed on both eyes and diabetic retinopathy was absent. Diabetic nephropathy was confirmed by kidney biopsy due to proteinuria. The bone age was delayed as 6-year. She was consistent with Mauriac's syndrome. During admission, she and her mother recieved diabetic education, and she was managed by strict diabetic control with human insulin. 4 months after, at discharge, her growth accelerations of height and weight were observed. Limited joint mobility and cataract were improved. Proteinuria disappeared after persantin and captopril medications.