RESUMO
The Authors report a case of coeliac disease which first appeared in a boy of 4, suffering from a seizure disorder. The bulky mass of fatty faeces led towards gastroenteric investigations (xylose-test, jejunum biopsy). The atrophy of the villi was clearly shown by the biopsy and a coeliac disease was easily diagnosed. The boy was prescribed a coeliac diet and no fits of generalized convulsions occurred during three years follow-up. Yet, while he was given a challenge free-diet, they started to occur. A computerized axial tomography (TAC) carried out when he was eight and another when fifteen, evidenced bilateral, intracranial calcifications, cortical-subcortical, in the blood vessels, symmetrically located in the occipital region. The anticonvulsive therapy, started when he was 4, has never been interrupted. Now A.M. is 21 and still following an anticonvulsive polytherapy. Many tests were performed. The result of folic acid dosage carried out when he was 16, and badly follow a coeliac diet, was less than 2 ng/ml. A modification in the neurological symptomatology was noted during his puberal phase: fits of convulsions changed into daily crises of mind-failures. This feature is still present in his adult age. The case is reported for its clinical characteristics of neurological symptomatology associated with coeliac disease. The iconographical documentation evidences endocranial calcifications frequently connected with coeliac disease.
Assuntos
Encefalopatias/complicações , Calcinose/complicações , Doença Celíaca/complicações , Epilepsia/complicações , Doença Celíaca/dietoterapia , Criança , Pré-Escolar , Seguimentos , Humanos , MasculinoRESUMO
In this work the authors describe two cases of Coffin-Lowry syndrome, diagnosed in two brothers of different age and with a different degree of evolution of the illness. The brothers present the mitral prolapse association. The clinic and instrumental examination have been executed. The various pathogenetic hypothesis have been discussed and the authors propose the most recent that considers the fibroblast incapable to produce the substances of connective matrix. This hypothesis explain also the evolution and the progression of the lesion at the interested organs (skin, joints, bones, heart). The illness is genetic, with a X-linked, semidominant transmission.
Assuntos
Anormalidades Múltiplas/genética , Osso e Ossos/anormalidades , Deficiência Intelectual/genética , Adolescente , Criança , Ossos Faciais/anormalidades , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Humanos , Masculino , Síndromes Orofaciodigitais/genética , Linhagem , Escoliose/genética , SíndromeRESUMO
The authors relate a case of M.L.S. observed in 1980 and which had successful outcome. They report the most recent proposals about etiology, pathogenesis and therapy, comparing them with the most recent observations concerning this disease and which have been studied and are undergoing diagnostic research all over the world.
Assuntos
Síndrome de Linfonodos Mucocutâneos/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Humanos , Masculino , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Síndrome de Linfonodos Mucocutâneos/etiologia , Dermatopatias/diagnósticoRESUMO
This study describe a case of SNC malformation that belongs to the prosencephalization defects. Particularly, the degree of cerebral anomalies and the gravity of facial abnormalities place the case in the group of Holotelencephalies. We have considered the ethiopathogenetic connections that can cause such embryonic damage, the clinical characteristics, the evolution and the prognosis, by the light of the dates provided by literature. Our patient is a six month-old female put under observation since her birth.
