RESUMEN
Three cases of cri du chat syndrome with varying ages of presentation are compared and contrasted to highlight the clinical features and evolution of the phenotype with time.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 5 , Síndrome del Maullido del Gato/diagnóstico , Progresión de la Enfermedad , Humanos , Lactante , Recién Nacido , Cariotipificación , Fenotipo , Factores de TiempoRESUMEN
A 15 month old boy with typical features of congenital nephrotic syndrome (CNS) is reported, who in addition to the renal pathology had an associated clinical hypothyroidism with low levels of total and free thyroxine and triiodothyronine and an elevated serum TSH. Improvement in the physical parameters and mental status from thyroid hormone replacement therapy is documented.
Asunto(s)
Enalapril/uso terapéutico , Humanos , Hipotiroidismo/diagnóstico , Lactante , Masculino , Síndrome Nefrótico/complicaciones , Pronóstico , Proteinuria/tratamiento farmacológico , Tiroxina/uso terapéuticoRESUMEN
A total of 132 healthy children between the ages one month and 12 yr were surveyed to determine the prevalence of antibodies to the three poliovirus serotypes. Among infants up to six months of age, 73.2, 85.4 and 56.1 per cent had antibodies to poliovirus types 1, 2 and 3, respectively. In children of age groups 7 months to 3 yr and above 3 yr, antibody prevalence to the three poliovirus serotypes was 90.2, 86.9 and 57.4, and 83.3, 96.7 and 76.7 per cent, respectively. Immunization coverage with three doses of OPV exceeded 85 per cent in children above 7 months of age. Low seroprevalence to type 3 poliovirus in the children was conspicuous. Of the 80 faecal samples studied from these children, 24 (30%) were positive for virus. Among these isolates, 16 were poliovirus type 1 and three type 2. Intratypic differentiation revealed that 15 of the 16 poliovirus type 1 isolates were of wild origin. Two out of the three poliovirus type 2 isolates were of oral poliovaccine origin. Our data indicate that in spite of good vaccination coverage wild poliovirus type 1 circulation was endemic in Bombay and; that a large number of children were susceptible to poliovirus type 3 infections.
Asunto(s)
Anticuerpos Antivirales/análisis , Niño , Preescolar , Femenino , Humanos , India/epidemiología , Lactante , Recién Nacido , Masculino , Poliomielitis/epidemiología , Poliovirus/inmunología , Vacuna Antipolio Oral/administración & dosificación , PrevalenciaRESUMEN
Fraser Syndrome is a rare disorder with only a few cases having been described in Indian literature. We report here a case of a patient aged 16 yr present with primary amenorrhea which is a very unusual mode of presentation. Multiple associated anomalies were present including those of eyelids, eyebrow, face, fingers and genitalia. Chromosome analysis revealed a normal female karyotype. Pituitary gonadotropins were within normal range.
Asunto(s)
Anomalías Múltiples/diagnóstico , Adolescente , Amenorrea/etiología , Anomalías del Ojo/diagnóstico , Cara/anomalías , Femenino , Genitales Femeninos/anomalías , Humanos , Cráneo/anomalías , Sindactilia/diagnóstico , SíndromeAsunto(s)
Preescolar , Humanos , Masculino , Osteólisis/patología , Tuberculosis Osteoarticular/patologíaRESUMEN
A 6 1/2 year old female child with congenital lipodystrophy is being presented. The noteworthy feature in this case was the defective leucocyte function and its association with tuberculous pericardial effusion.