Subject(s)
Fingers/abnormalities , Gigantism/physiopathology , Limb Deformities, Congenital/diagnostic imaging , Limb Deformities, Congenital/physiopathology , Toes/physiopathology , Fingers/diagnostic imaging , Fingers/physiopathology , Gigantism/diagnostic imaging , Humans , Infant, Newborn , Male , Metatarsal Bones/diagnostic imaging , Metatarsal Bones/physiopathology , Radiography , Toes/diagnostic imagingABSTRACT
TEMA:macrossomia é o desvio positivo dos padrões de crescimento normal. OBJETIVO: devido à escassez de estudos das habilidades auditivas nas síndromes macrossômicas, este trabalho objetivou verificar e comparar o desempenho auditivo de dois pacientes e correlacioná-los aos achados complementares. MÉTODO: anamnese, avaliação audiológica, de linguagem, psicológica e de neuroimagem em dois sujeitos do gênero feminino, de oito e dezessete anos. RESULTADOS: sujeito I - normal, sujeito II - alterado. CONCLUSÃO: há uma crescente necessidade em investigar a neurofisiologia da audição nessa população, visto que estudos fonoaudiológicos poderiam propiciar o diagnóstico precoce, favorecendo o processo de intervenção.
Subject(s)
Adolescent , Child , Female , Humans , Auditory Diseases, Central/diagnosis , Auditory Perception/physiology , Gigantism/physiopathology , Gigantism/psychology , Hearing , Hearing Tests , Language Tests , SyndromeABSTRACT
BACKGROUND: Macrosomia is the positive deviation of normal growing standards. AIM: Due to the lack of studies related to the auditory abilities in macrosomic syndromes, the aim of the present study was to verify and compare the auditory abilities of two patients and to correlate these results with other complementary findings. METHOD: Anamneses, hearing, language, psychologic and neuroimage evaluation in two female subjects, eight and seventeen years old. RESULTS: Subject I - normal; subject II - impaired. CONCLUSION: There is a growing need for more investigations of the neurophysiology of the auditory system in this population. Studies in the area of hearing can favor the early diagnosis and therefore the intervention process.
Subject(s)
Auditory Diseases, Central/diagnosis , Auditory Perception/physiology , Gigantism/physiopathology , Adolescent , Child , Female , Gigantism/psychology , Hearing , Hearing Tests , Humans , Language Tests , SyndromeABSTRACT
Sotos syndrome or cerebral gigantism is characterized by macrocephaly, overgrowth, mental retardation and central nervous system abnormalities. Congenital heart defects may be present. We report 8 patients with this syndrome and relate their clinical features, neuroimaging and echocardiographic findings.
Subject(s)
Brain/abnormalities , Craniofacial Abnormalities/etiology , Gigantism/etiology , Abnormalities, Multiple/etiology , Abnormalities, Multiple/physiopathology , Adolescent , Child , Child, Preschool , Craniofacial Abnormalities/physiopathology , Female , Gigantism/physiopathology , Humans , Intellectual Disability/physiopathology , Magnetic Resonance Imaging , Male , SyndromeABSTRACT
Hypersecretion of GH is usually caused by a pituitary adenoma and about 40% of these tumors exhibit missense gsp mutations in Arg201 or Gln227 of the Gs, gene. We studied 20 pituitary tumors obtained from patients with GH hypersecretion. One tumor was resected from an 11 year-old boy with a 3 year history of accelerated growth, associated with increased concentrations of serum GH and IGF-I, which were not suppressed by glucose administration. The remaining 19 tumors were obtained from adult acromegalic patients, who had elevated baseline serum GH levels that did not show evidence of suppression after administration of glucose. The gsp mutations were studied by enzymatic digestion of the amplified PCR fragment of exon 8 (Arg201) and exon 9 (Gln227) with the enzymes NlaIII and NgoAIV, respectively. The tumors obtained from the boy and from nine of the 19 patients with acromegaly exhibited the gsp mutation R201H. None of the tumors had the Gln227 mutation. The gsp positive patients tended to be older, had smaller tumors, and had preoperative basal serum GH levels which were significantly lower (21 +/- 6 vs 56 +/- 16 microg/l, p<0.05) than the gsp negative patients. In this study, we documented the presence of a gsp mutation in Arg201 in a boy with gigantism and in approximately half of 19 Chilean adult patients with acromegaly, similar to other populations.
Subject(s)
Adenoma/genetics , Adenoma/metabolism , GTP-Binding Protein alpha Subunits, Gs/genetics , Human Growth Hormone/metabolism , Mutation, Missense/genetics , Oncogene Proteins/genetics , Pituitary Neoplasms/genetics , Pituitary Neoplasms/metabolism , Adenoma/complications , Child , Chile , Codon/genetics , DNA/genetics , DNA/isolation & purification , Gigantism/etiology , Gigantism/genetics , Gigantism/physiopathology , Glucose Tolerance Test , Growth/physiology , Humans , Immunohistochemistry , Magnetic Resonance Imaging , Male , Pituitary Neoplasms/complications , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
Após uma ampla revisÝo da literatura pertinente os autores fazem uma abordagem dos aspectos relevantes do Gigantismo Localizado Idiopático (GLI). Descrevem dados sobre definiçÝo, sinonímia, citologia, formas de apresentaçÝo, diagnósticos diferenciais e tratamento. apresentam um caso clínico clássico do tipo GLI dinâmico sendo provavelmente o primeiro da literatura nacional
Subject(s)
Female , Adult , Acromegaly/diagnosis , Gigantism/physiopathology , Gigantism/therapyABSTRACT
Embora a macrodactilia seja uma condiçäo patológica infreqüente, pouco observada pelo reumatologista, ela merece ser revisitada. Apresentamos este caso (com macrodactilia, hemangiomatose cutânea, varizes exuberantes e assimetria dos membros inferiores, ao lado de síndrome do túnel carpiano bilateral), para alertar quanto ao diagnóstico diferencial entre a síndrome de Klippel-Trenaunay-Weber, a neurofibromatose, a acromegalia e a macrodistrofia lipomatosa. É possível que um diagnóstico correto mais precoce possa propiciar melhor controle da enfermidade, assim como prevenir atitudes cirúrgicas inadequadas