RESUMEN
The authors report the case of an infant presenting with a syndrome associating dwarfism, microcephaly, facial dysmorphy and important skeletal abnormalities consisting of radiologic changes concerning the skull, long bones, vertebrae, pelvis, ribs, metacarpus and metatarsus. Severe cerebral atrophy and neurologic involvement were responsible for death in the first year of life. This rare syndrome is likely to have an autosomal recessive transmission.
Asunto(s)
Enfermedades del Desarrollo Óseo/congénito , Enanismo/congénito , Microcefalia/genética , Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Enfermedades del Desarrollo Óseo/genética , Enanismo/genética , Humanos , Recién Nacido , Masculino , Radiografía , SíndromeRESUMEN
Observation of a patient with r(14) mosaicism together along with 18 previously published observations define the syndrome as follows: mental deficiency, seizures, microcephaly (usually), and facial dysmorphism showing a narrow, elongated face, short palpebral fissures, a flat nasal bridge, and retrognathia. A retinal dystrophia which may be specific of the syndrome consists of a hyperpigmentation and, in three patients, yellow-white spots of the macula. The brain shows mild dilation of the lateral ventricles.
Asunto(s)
Anomalías Múltiples/genética , Aberraciones Cromosómicas/genética , Cromosomas Humanos 13-15 , Mosaicismo , Preescolar , Trastornos de los Cromosomas , Epilepsia/genética , Cara/anomalías , Femenino , Humanos , Cariotipificación , Microcefalia/genética , Fenotipo , Trastornos de la Pigmentación/genética , Enfermedades de la Retina/genética , Síndrome , Tomografía Computarizada por Rayos XRESUMEN
A 17-year-old male patient with Bartter's syndrome was admitted for renal function studies. This patient had persistent hypokalemia, first found at age 5; the diagnosis of Bartter's syndrome with renal hypersecretion of prostaglandins E2 and F2 alpha had been established at age 13. A congenital defect of chloride reabsorption was expected, but after 4 years of indomethacin treatment no such defect was found. Withdrawal of indomethacin for 1 week resulted in profound hypokalemia and the appearance of a chloride reabsorption defect, with an excessive urinary PGE2 and PGF2 alpha excretion, and a parallel decrease in plasma prostaglandin precursors. The cause of Bartter's syndrome in this patient seems to be renal hyperprostaglandinism.