RESUMO
X-linked lymphoproliferative disease is characterized by immune deficiency, particularly to the Epstein-Barr virus and by a tendency to develop fatal infectious mononucleosis, acquired hypogammaglobulinaemia or malignant lymphoma. This disorder has been diagnosed in three boys, two brothers and a maternally related cousin, residing in Australia. The proband presented at 6 years of age with fulminating infectious mononucleosis. His 9 year old male cousin had developed an ileal Burkitt lymphoma one year earlier. Immunological and molecular genetic evidence is presented to support our view that his younger sibling is also affected with this condition. DNA linkage studies using probes to DXS10 and DXS37 provide confirmatory evidence for the diagnosis in the proband's brother and information on carrier status in female family members.
Assuntos
Síndromes de Imunodeficiência/complicações , Mononucleose Infecciosa/imunologia , Transtornos Linfoproliferativos/genética , Agamaglobulinemia/complicações , Linfoma de Burkitt/complicações , Criança , Pré-Escolar , Triagem de Portadores Genéticos , Ligação Genética , Humanos , Deficiência de IgG , Neoplasias do Íleo/complicações , Mononucleose Infecciosa/complicações , Transtornos Linfoproliferativos/complicações , Masculino , LinhagemRESUMO
A 5-year-old girl suffered Campylobacter jejuni enteritis. Over the ensuing weeks she developed glomerulonephritis, pulmonary hemorrhage and anemia. Renal biopsy revealed immune-complex mediated, crescentic glomerulonephritis. Campylobacter jejuni antigen was identified in the glomeruli suggesting a causal role of Campylobacter jejuni in the disease process.
Assuntos
Anemia/etiologia , Infecções por Campylobacter/complicações , Glomerulonefrite/etiologia , Hemorragia/etiologia , Pneumopatias/etiologia , Campylobacter fetus , Pré-Escolar , Feminino , HumanosRESUMO
A patient with tuberous sclerosis diagnosed at the age of 5 years developed an intractable seizure disorder characterized by complex partial seizures numbering 10-20/day. Interictal electroencephalograms (EEG) showed a right frontal epileptogenic focus. A computerized tomography scan demonstrated calcification in the right frontal region at two sites, periventricular calcification and multiple low density lesions. Neuropsychological assessment showed a verbal intelligence quotient (IQ) of 69 and a performance IQ of 88. Telemetry and video monitoring recorded 10 seizures during which the EEG showed flattening of ongoing sharp wave activity in the right frontal region. Electrocorticography further identified and localized epileptogenic tissue in the right frontal cortex and surgical removal of involved tissue and the adjacent two tubers was carried out. Twelve months after surgery the patient has had only two brief seizures.
