ABSTRACT
Introducción: El síndrome de McCune-Albright (SMA) es una enfermedad rara caracterizada por la triada: manchas cutáneas de color café con leche, displasia fibrosa poliostótica y pubertad precoz. Puede afectar a diversos ejes hormonales, entre ellos el de la hormona de crecimiento (GH), pudiendo asociarse a acromegalia. Reporte de caso: describimos el caso de una mujer de 44 años, con pubertad precoz periférica, hemorragia uterina anormal, crecimiento de manos y pies, prognatismo, prominencia frontal, manchas café con leche y tumoraciones pétreas en cara y antebrazos. Resultados: Apoyados con exámenes laboratoriales y de imágenes, se llegaron a los diagnósticos de acromegalia, hipogonadismo hipogonadotropo y síndrome de McCune-Albright. La paciente fue sometida a tratamiento quirúrgico con persistencia de enfermedad clínica y laboratorial. Conclusión: El diagnóstico y tratamiento oportunos de la acromegalia y sus complicaciones brindará un mejor pronóstico a los pacientes con SMA.
Background: McCune-Albright syndrome (MAS) is a rare disease characterized by the triad: café-au-lait skin spots, polyostotic fibrous dysplasia, and precocious puberty. It can affect various hormonal axes, including growth hormone (GH), and may be associated with acromegaly. We describe the case Case report:of a 44-year-old woman with peripheral precocious puberty, abnormal uterinebleeding, growthof thehands and feet, prognathism, frontal prominence, café-au-lait spots, and stony tumorsonthefaceandforearms.Supportedby Results:laboratory and imaging tests, the diagnoses of acromegaly, hypogonadotropic hypogonadism and McCune-Albright syndrome were reached. The patient underwent surgical treatment with persistence of clinical and laboratory disease. Conclusion: Timely diagnosis and treatment of acromegaly and its complications will provide a better prognosis for patients with MAS
ABSTRACT
RESUMEN El Síndrome de McCune-Albright (SMA) es una enfermedad poco frecuente compuesta por una tríada clásica: displasia fibrosa poliostótica (DFP), manchas cutáneas de color café con leche y alteraciones endocrinas, siendo la más frecuente la pubertad precoz. Este síndrome no se ha visto asociado a enfermedades autoinmunes. Reportamos el primer caso de una paciente con SMA y lupus eritematoso sistémico.
ABSTRACT McCune-Albright Syndrome (MAS) is a rare disease characterized by a classical triad: polyostotic fibrous dysplasia (PFD), cafe-au-lait macules and endocrine abnormalities, most frequently precocious puberty. This syndrome has not been associated with autoimmune diseases. We report the first case of a patient with MAS and systemic lupus erythematosus.
Subject(s)
Humans , Female , Child , Fibrous Dysplasia, Polyostotic/complications , Lupus Erythematosus, Systemic/complications , Diagnosis, Differential , Lupus Erythematosus, Systemic/diagnosisABSTRACT
A displasia fibrosa (DF) do osso é uma desordem congênita, não hereditária, do esqueleto e de caráter benigno, que cursa com amplo espectro de apresentação, variando do assintomático à dor óssea, fraturas de repetição, deformidades ósseas (fêmur em cajado de pastor e fácies leonina) e compressão de nervos cranianos. É comumente referida como uma doença óssea de alto turnover. Todos os casos contêm a mutação GNAS1. A DF apresenta duas formas: a monostótica, mais comum, e a poliostótica, mais rara, que quando acompanhada de manchas café-com-leite e puberdade precoce constitui a síndrome de McCune -Albright. O tratamento pode ser feito com medicamentos como bifosfonato ou de forma cirúrgica, objetivando-se a correção das lesões. Este trabalho relata o caso de um menino de cinco anos de idade cujos sinais e sintomas conduziam ao diagnóstico de DF. Além disso, faz revisão de literatura sobre uma doença pouco comum, com variada gama de diagnósticos diferenciais.
Background and Objectives: Fibrous Dysplasia (FD) of bone is a benign nothereditary congenital disorder of medullary bone maintenace in which bone undergoingphysiologic lysis is replaced by abnormal proliferation of fibrous tissue,resulting in assymmetric distortion and expantion of bone. It may be confined toa single bone (monostotic) or involve several bones (polyostotic). Prompt recognitionof this disease is important once it takes part in a wide group of differentialdiagnosis. This review is intended to provide clinicians with an understanding ofthe pathophysiology that underlies FD and its presentation forms. Methods: Thisarticle reviews and analyzes literature relevant to the pathophysiology and managementof FD and presents a case-study of a five-year-old boy who came downwith it. Methods include search of MEDLINE, and bibliographic search of currenttextbooks and journal articles. Results and Conclusions: The patient who wasinvestigated had, at the beginning, bone pain and other symptoms leading toa possible diagnosis of FD, which was confirmed by bone biopsy. He remainsasymptomatic.
Subject(s)
Humans , Male , Child , Diphosphonates/therapeutic use , Fibrous Dysplasia of Bone/diagnosis , Fibrous Dysplasia of Bone/drug therapy , Biopsy , Diagnosis, Differential , RadiographyABSTRACT
A displasia fibrosa é considerada uma desordem óssea benigna, de progressão lenta na qual há substituição de osso normal por tecido fibroso Quando associada a hiperpigmentação de pele e distúrbios endocrinológicos denomina-se síndrome de McCune Albright. Relatamos um caso raro de síndrome de McCune Albright em uma criança do sexo masculino que apesar de apresentar mínimas distorções crânio-facial externas, mostrou um envolvimento difuso e bilateral das órbitas.
Fibrous dysplasia is a benign, slowly progressive bone disorder, in which normal bone is replaced by fibrous tissue. It is called McCune Albright syndrome when associated with skin hyperpigmentation and endocrinological disorders. We report a rare case of McCune Albright syndrome in a boy, who presented bilateral and diffuse involvement of orbits but few external craniofacial distortions.
Subject(s)
Child , Humans , Male , Fibrous Dysplasia, Polyostotic/diagnosis , Orbital Diseases/etiology , Craniofacial Abnormalities , Fibrous Dysplasia, Polyostotic/complications , Orbital Diseases , Tomography, X-Ray ComputedABSTRACT
Objective A 23-year-old female patient who had a past history of sexual - precocity and fracture developed hyperhyroidism 8 months ago. Radiological examination revealed enlargement of sella turcica and a adrenal gland nodule. The patient was diagnosed to have McCune -Albright syndrome and scheduled for resection of left subtotal adrenalectomy under general anesthesia. The patient was taking (1) thiamazole 5 mg t. i. d. and propranolol 10 mg q. d. for hyperthyroidism; (2) adalat 10 mg t. i. d. and potassium citrate 20 ml t. i. d. for Cushing syndrome and (3) calcium tablets for osteoporosis. Anesthesia was induced with intravenous midazolam 1 mg, fentanyl 50 ?g and vecuronium 1 mg followed by propofol 150 mg and succinyl choline 100 mg. The patient was intubated and mechanically ventilated (VT = 500 ml, RR =10 bpm, I: E = 1 :2) . PET CO2 was maintained between 35 - 45 mm Hg. Anesthesia was maintained with inhalation of isoflurane and N2O - O2 (1:2) and intermittent i.v. boluses of fentanyl and vecuronium. The BP was increased to 180/110 mm Hg after induction of anesthesia. Urapidil 10 mg was given intermittently i.v. During the exploration of adrenal gland BP was again increased to 200/140 mm Hg. Nitroglycerin was infused i.v. and BP was decreased to 120-130/80-90 mm Hg and was kept at this level till the end of operation. Hydrocortisone succinate 100 mg was infused i.v. slowly after operation. The operation went smoothly. The patient was extubated and the postoperative course was uneventful.