Helmut Saule

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Two sisters with infantile OPCA plus spinal muscular atrophy (SMA) are reported. Both showed severe hypotonia and psychomotor delay from birth, and in addition, nystagmoid eye movements and vision impairment were evident. Cerebellar hypoplasia with cystic dilatation was seen by neuro-imaging methods. Pathoanatomically, a marked cerebellar hypoplasia and(More)
Two different ventilation techniques were compared in a seven-centre, randomised trial with 181 preterm infants up to and including 32 completed weeks gestational age, who needed mechanical ventilation because of lung disease of any type. Technique A used a constant rate (60 cycles/min), inspiratory time (IT) (0.33s) and inspiratory: expiratory ratio (I∶E)(More)
Two newborns with congenital rubella syndrome are reported. Cranial sonography demonstrated bilateral cystic lesions in the subependymal germinal matrix. Congenital rubella and cytomegalovirus (CMV) infections are the most common proven causes of subependymal cysts of nonhaemorrhagic origin in the newborn. The sonographic detection of these cysts should(More)
With increased frequency, lipoma of the corpus callosum and intracranial dermoids have been recognized to be associated with oculoauriculovertebral dysplasia (Goldenhar syndrome) [1-5]. We report an additional case of lipoma of the corpus caltosum in a newborn with Goldenhar syndrome. Sonographic, roentgenographic and computertomographic (CT) features of(More)
During selective screening for organic acidurias, a 10-week-old girl with muscular hypotonia and recurrent fits was shown to be excreting 3-methylcrotonylglycin and 3-hydroxyisovaleric acid. Besides these metabolites of leucine the presence of small but pathological amounts of propionic and methylcitric acids were demonstrable in her urine, pointing to a(More)
This is the report of two independent families in which a balanced maternal translocation led to trisomy 12p in one of each their offspring. Evaluation of 21 further case reports indicates that this is a phenotypically well defined syndrome which leads to severe developmental retardation. It can be recognized by a characteristic combination of craniofacial(More)
Long-chain polyunsaturated fatty acids (LCP) are considered conditionally essential nutrients for the infant born prematurely, and attempts are being made to match fatty acid profiles of formula and breast fed infants. In this double-blind, randomized study we investigated the effects of a formula enriched with both n-6 and n-3 LCP on plasma fatty acid(More)
This is the report of two independent families in which a balanced maternal translocation led to trisomy 12 p in one of each their offspring. Evaluation of 21 further case reports indicates that this is a phenotypically well defined syndrome which leads to severe developmental retardation. It can be recognized by a characteristic combination of craniofacial(More)
At 4 weeks of age, an infant with Down syndrome developed severe dehydration and salt loss with the typical features of pseudohypoaldosteronism (PHA). Plasma renin activity, 11-deoxycorticosterone, corticosterone and aldosterone levels were all increased severalfold over the normal range for age, thus excluding an adrenal biosynthetic defect. Clinical(More)