RESUMO
A 10-week-old female infant had anorexia, failure to thrive, and dehydration. Hyponatremia and hyperkalemia were found, along with urinary salt loss and increased plasma renin activity. Plasma deoxycorticosterone, corticosterone, and urinary 18-hydroxycorticosterone levels were increased. The plasma aldosterone levels were inappropriately reduced given the degree of sodium depletion present, while urinary aldosterone concentrations were persistently low. These are characteristic findings of an enzymatic defect in the synthesis of aldosterone involving 18-dehydrogenase, also known as methyl oxidase defect type 2. The infant responded to therapy with fludrocortisone acetate, including catch-up growth in both length and weight. The disease is transmitted by an autosomal recessive gene.
Assuntos
Hiperaldosteronismo/terapia , Dieta Hipossódica , Feminino , Fludrocortisona/uso terapêutico , Transtornos do Crescimento/etiologia , Antígenos HLA/genética , Humanos , Hiperaldosteronismo/complicações , Hiperaldosteronismo/genética , Hiperaldosteronismo/metabolismo , LactenteRESUMO
Of 62 children seen at The Hospital for Sick Children, Toronto, who had tuberous sclerosis (TS), 58 had a history of seizures (developing during the first year of life in 37) and mental retardation was diagnosed in 51. Classic congenital hypopigmented patches were present in 42 and adenoma sebaceum occurred in 26 of the patients. Computed tomography (CT) is an essential diagnostic tool. We conclude that TS is more common than has been believed. Seizures are the most common manifestation of the disease and the hypopigmented patches, its first cutaneous manifestation, are present at an early age. When a positive diagnosis has been made, parents and siblings should be examined for signs of TS, keeping in the mind the wide spectrum of findings in this condition; if not stigmata are present on examination, then a CT scan should be considered for parents of reproductive age so that proper genetic counseling can be given.
