ABSTRACT
We report clinical features and course of Lowe's syndrome with regard to three cases. All of them are males and clear inherited transmission was demonstrated in patients 2 and 3 and was suggested in patient 1. Age at the moment of diagnosis oscillated between 7 and 18 years. The three cases showed weight and height percentiles under p 3. Congenital bilateral cataract and search nystagmus were found in all of them. Profound mental retardation, muscular hypotonicity and diminished or absent tendon reflexes constituted distinctive findings in the neurological area. Among renal manifestations stood out proteinuria, generalized hyperaminoaciduria and tubular renal acidosis, they carried from rickets and growth failure. Cases 1 and 2 has characteristic facies. Patient 1 died after series of recurrent bronchial and pulmonary infections: death happened during Fanconi's syndrome evolution. Cases 2 and 3 are in a stabilized period, with a longer life expectation, although they suffer from residual moderate renal failure.
Subject(s)
Oculocerebrorenal Syndrome/diagnosis , Renal Tubular Transport, Inborn Errors/diagnosis , Adolescent , Child , Humans , Infant , Male , Oculocerebrorenal Syndrome/physiopathology , Oculocerebrorenal Syndrome/therapyABSTRACT
We evaluated annually the compliance of dietary restriction, weight, height, head circumference EEG and IQ score on 16 children with phenylketonuria comparing the children diagnosed early with those later. The compliance was good in children treated early and bad in the others. Height and head circumference was normal in all children and we found a tendency towards obesity in the older ones. The IQ score was lower than 80 in 77% of the children diagnosed later and in those the EEG showed slow basal activity in 55%.
Subject(s)
Patient Compliance , Phenylketonurias/diet therapy , Age Factors , Anthropometry , Child , Child Development , Child, Preschool , Electroencephalography , Follow-Up Studies , Humans , Infant , Infant, Newborn , Phenylketonurias/blood , Phenylketonurias/diagnosis , Phenylketonurias/physiopathologyABSTRACT
We report a familial case of Lowe's syndrome with histological and ultrastructural examination of the renal biopsy. The patient was an eleven years old boy with operated congenital bilateral cataracts, mental and psychomotor retardation, hyperexcitability, muscular hypotonia, proteinuria, generalised aminoaciduria, proximal tubular acidosis and reduced glomerular filtrate. The renal biopsy showed, in addition to the alterations in the glomerular corpuscle (mesangial proliferation), proximal tubules (atrophy, dilatation, hyalinous or calcerous cylindres and mitochondrial abnormalities) and interstitium (fibrosis, lymphocytic infiltrate), large number of cortical microcysts, many of with corresponded to Bowman's cystic capsules with small glomeruloid projections.
