Surgical Treatment of Polyostotic Craniomaxillofacial Fibrous Dysplasia Associated With Acromegalia: The McCune - Albright Syndrome.

INTRODUCTION: The McCune-Albright syndrome (MAS) is a complex congenital disorder caused by the embryonic post-zygotic somatic activating mutations in the GNAS1 gene. In such syndrome, phenotypes are heterogeneous and comprised polyostotic/monostotic fibrous dysplasia, café au lait macules, and hyperfunctioning endocrinopathies as the excess growth hormone. Likewise, acromegaly, as a manifestation of the endocrine hyperfunction, is unusual and affects about 20% of patients with MAS. CASE PRESENTATION: This research study describes a case of a 31-year-old female subject presenting polyostotic fibrous dysplasia with severe facial involvement, along with acromegaly and the MAS. The case was satisfactorily managed by surgical re-alignment and presented no clinical signs of relapse in a 12-year follow-up period. Finally, a literature review was conducted to discuss the standard protocols and the controversies when treating such cases. CONCLUSION: Patients with craniomaxillofacial fibrous dysplasia associated with acromegaly may present significant facial deformities that can be satisfactorily treated by cosmetic treatment, especially in patients with psychological problems and severe social acceptance.

[«Man-in-the-barrel¼ syndrome: atypical manifestation of giant cell arteritis]. / Sindrome del hombre en el barril: manifestacion atipica de la arteritis de celulas gigantes.

INTRODUCTION: «Man-in-the-barrel¼ syndrome refers to diplegia of the upper extremities in which mobility of the head and lower limbs is preserved. Brachial plexitis that presents as «man-in-the-barrel¼ syndrome is an unusual manifestation of giant cell arteritis. We report a case of C5-C6 plexitis as part of the clinical features of a patient with giant cell arteritis. CASE REPORT: A 70-year-old male with a two-month history of weight loss, headache, facial pain and jaw claudication, associated with a persistent elevation of acute phase reactants and bilateral brachial plexopathy, with no evidence of neck or brain injuries or occult neoplasm and with negative autoimmunity tests. Results of the biopsy study of the temporal artery were compatible with giant cell arteritis, and the positron emission tomography scan revealed extensive vascular involvement of the aorta and its branches. CONCLUSIONS: Although the typical clinical manifestations of giant cell arteritis are headache, jaw claudication, loss of sight, constitutional symptoms and polymyalgia rheumatica, its presence must be suspected in patients over the age of 50 who manifest alterations affecting the peripheral nerve, including brachial diplegia with no other demonstrable cause.

TITLE: Sindrome del hombre en el barril: manifestacion atipica de la arteritis de celulas gigantes.Introduccion. El sindrome del hombre en el barril hace referencia a la diplejia de los miembros superiores con movilidad preservada de la cabeza y los miembros inferiores. La plexitis braquial que se presenta como sindrome del hombre en el barril es una manifestacion inusual de la arteritis de celulas gigantes. Se comunica un caso de plexitis C5-C6 como parte del cuadro clinico de un paciente con arteritis de celulas gigantes. Caso clinico. Varon de 70 años con dos meses de evolucion de perdida de peso, cefalea, dolor facial y claudicacion mandibular, asociados a elevacion persistente de reactantes de fase aguda y plexopatia braquial bilateral, sin evidencia de lesiones cervicales o cerebrales, neoplasia oculta y con pruebas de autoinmunidad negativas; la biopsia de la arteria temporal fue compatible con arteritis de celulas gigantes y la tomografia por emision de positrones demostro una extensa afeccion vascular de la aorta y sus ramas. Conclusiones. Si bien las manifestaciones clinicas tipicas de la arteritis de celulas gigantes son cefalea, claudicacion mandibular, perdida visual, sintomas constitucionales y polimialgia reumatica, se debe sospechar su presencia en pacientes mayores de 50 años que manifiesten alteraciones del nervio periferico, entre ellas, diplejia braquial sin otra causa demostrable.

Displasia fibrosa craneofacial / Cranial fibrous dysplasia

Presentamos la experiencia de los autores en el control y tratamiento de 13 pacientes con displasia fibrosa monostótica con afección a huesos faciales y temporales, donde solo tres de ellos requirieron tratamiento quirúrgico debido a alteraciones funcionales, como pérdida visual e hipoacusia. Se mencionan los sitios de presentación mas frecuentes y se presenta el caso clínico de un paciente que requirió descompresión quirúrgica

[Fibrous dysplasia of the temporal bone and cerebral occlusive vasculopathy: report of a case]. / Displasia fibrosa do osso temporal e vasculopatia oclusiva cerebral. Relato de caso.

Fibrous dysplasia is a benign disease with unknown etiology. Skull attempt may cause neurological disorders. The diagnostic can be made through radiological examination. A case of a patient with right temporal bone involvement with facial palsy, right parietal lobe infarctions and elevated anticardiolipin antibody titers is presented. Cerebral angiography showed occlusion of several cerebral arteries. Post mortem examination displayed recent myocardial infarction, ischemic cerebral softening, and generalized arteriosclerosis. The simultaneous occurrence of fibrous dysplasia and a probable anticardiolipin syndrome is commented.

Displasia fibrosa do osso temporal: apresentaçäo de um caso / Fibrous dysplasia of temporal bone: report of a case

Os autores relatam um caso de displasia fibrosa monostótica do osso temporal complicada por otite média crônica colesteatomatosa fistulizada na regiäo retroauricular e em outro ponto póstero - inferior do pescoço. O paciente foi submetido a sete intevençöes cirúrgicas num período de nove anos sendo que na última houve ressecçäo extensa do osso afetado com apoio da equipe neurocirúrgica. A displasia fibrosa do osso temporal apesar de histologicamente benigna pode ser maligna no que se refere a sua localizaçäo anatômica e evoluçäo clínica. Os autores ressaltam a importância do segmento pos-opeatório deste pacientes por um longo tempo

[Fibrous dysplasia of the skull: neurologic manifestations]. / Displasia fibrosa do crânio: manifestações neurológicas.

The neurological manifestations of eight patients with osseous fibrous dysplasia of skull were retrospectively studied. In this series, the frontal bone was involved in 75% of the patients, the sphenoid or temporal bones in 37.5%, and the parietal in 25%. It was observed that cranial deformities occurred in all but one case, headache was present in 87.5% of the patients, visual disturbances in 50%, proptosis in 25%, and auditive symptoms in 12.5%. Six out of the eight patients were operated on: three of the four who presented progressive visual loss had postoperative improvement. In their follow up, none presented, until now, evidence of recurrence or worsening of symptoms, confirming the benign nature of fibrous dysplasia.

Displasia fibrosa do crânio: manifestaçöes neurológicas / Fibrous dysplasia of the skull: neurologic manifestations

Foram estudados, retrospectivamente, oito pacientes com displasia fibrosa de ossos do crânio, analisando-se suas manifestaçöes neurológicas. Na presente série, o osso frontal estava comprometido em 75% dos pacientes, o esfenóide ou o temporal em 37,5% e o parietal em 25%. Observou-se que, além das deformidades ósseas (presentes em todos os casos com exceçäo de um), 87,5% dos pacientes queixavam-se de cefaléia, 50% apresentavam diminuiçäo da acuidade visual, 25% tinham proptose e em 12,5% predominavam sintomas auditivos. Dos seis pacientes submetidos a tratamento neurocirúrgico, quatro apresentavam alteraçöes oftalmológicas progressivas, havendo melhora acentuada pós-operatória em três deles. Todos os casos foram seguidos ambulatorialmente, sem que em qualquer deles fosse observada a recidiva ou piora dos sintomas, confirmando a natureza benigna da displasia fibrosa