EEG development in early treated PKU patients from birth to 6 years of age

Pietz, Joachim; Lütcke, A.; Sontheimer, Dieter; Benninger, C.; Pietz, Barbara; Batzler, U.; Heusser, Andrew C.

doi:10.1007/bf02126296

Cited by 4 publications

(4 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In 1991 the progress of 51 never treated PKU patients during 22 years was reported. In that study one quarter of the patients had seizures, half were profoundly mental retarded and half were moderately impaired 16 . In our patients' group there was a positive correlation between the intensity of myelin defect and high plasma PA levels (P<0.001) (table 2).…”

Section: Discussionmentioning

confidence: 87%

“…The most common EEG abnormalities in PKU were background abnormalities and paroxysmal discharges 16,24 . In a review about EEG recording of PKU patients it was demonstrated that about 45% of the patients had an abnormal EEG and nearly 30% had a normal EEG in the beginning which became abnormal later 25 .…”

Section: Discussionmentioning

confidence: 99%

“…Rolle-Daya detected various degrees of EEG abnormalities even in early-treated children and normal EEG patterns in 31 % of patients diagnosed after the age of six months 24 . The most common EEG abnormalities in PKU were background abnormalities and paroxysmal discharges 16,24 . In a review about EEG recording of PKU patients it was demonstrated that about 45% of the patients had an abnormal EEG and nearly 30% had a normal EEG in the beginning which became abnormal later 25 .…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Geç tanı konulan 38 klasik fenilketonurili hastanın nörolojik açıdan değerlendirilmesi

Haytoğlu¹,

Hergüner²,

Soyupak³

et al. 2016

Cukurova Med J

View full text Add to dashboard Cite

AbstractÖz Purpose: We investigated the neurological outcome of 38 late-diagnosed phenylketonuria patients with magnetic resonance imaging (MRI), electroencephalography (EEG), visual evoked potentials (VEP), intelligence quotients (IQ) and examined the correlation of these parameters with the age and the plasma phenylalanine levels of patients at diagnosis. Material and Methods: Thirty-eight late-diagnosed classic phenylketonuria patients were enrolled in the study. Plasma phenylalanine levels were measured by spectrofluorometric method. MRI was evaluated by a pediatric neuroradiologist. Ankara developmental screening inventory (ADSI) and Wechsler intelligence scale for Turkish children (WISC-R) test were performed to detect IQ scores. Porteus Mazo test adapted for Turkish children intelligence test were performed to all children. The EEG of all patients were recorded. VEP was used to measure the electrical activity in the brain to visual stimulus. Results: The high plasma phenylalanine levels and latediagnosis were associated with low IQ scores, pathological EEG, and pathological VEP patterns. High PA levels were also associated with more serious white matter signal abnormalities. Conclusion: Our results demonstrated the impact of early diagnosis and low levels of phenylalanine at diagnosis on the intellectual, neurological development and visual outcomes.Amaç: Geç tanı alan fenilketonuri hastalarında manyetik rezonans görüntüleme (MRG), elektroensefalografi (EEG), uyarılmış görsel potansiyeller (VEP) ve zeka katsayısı ile nörolojik açıdan etkilenme ve bu parametrelerin tanı yaşı ve kan fenilalanin düzeyi ile korelasyonu araştırıldı. Gereç ve Yöntem: Çukurova Üniversitesi Tıp Fakültesi, Çocuk Metabolizma ve Beslenme Bilim Dalında başvuran geç tanı almış 38 klasik fenilketonurili hasta çalışmaya alındı. Kan fenilalanin düzeyleri spektroflorometrik yöntem ile ölçüldü. Ankara gelişim tarama envanteri (AGTE), Türk çocuklarına göre uyarlanmış Wechesler zeka testi (WISC-R) yaş gruplarına uygun olarak yapıldı. Tüm çocuklara Türk çocuklarına göre uyarlanmış Porteus Maze zeka testi uygulandı. Tüm çocuklara EEG kaydı yapıldı. Merkezi sinir sisteminin görsel uyaranlara verdiği yanıt VEP ile değerlendirildi. MRG ile santral sinir sistemi bulguları incelendi. Bulgular: Yüksek plazma fenilalanin düzeyi ve geç tanı, düşük zeka katsayısı, patolojik EEG, patolojik VEP ile ilişkili bulundu. Yüksek fenilalanin düzeyi ciddi beyaz cevher sinyal değişiklikleri ile ilişkiliydi. Sonuç: Çalışmamız erken tanının ve tanı anındaki düşük kan fenilalanin düzeyinin entellektüel , nörolojik gelişim ve görme üzerine olan etkisini göstermiştir.

show abstract

Section: Discussionmentioning

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Geç tanı konulan 38 klasik fenilketonurili hastanın nörolojik açıdan değerlendirilmesi

Haytoğlu¹,

Hergüner²,

Soyupak³

et al. 2016

Cukurova Med J

View full text Add to dashboard Cite

show abstract

“…significativa. También se ha recurrido a la gamaglobulina endovenosa: Pietz y colaboradores (27) recomiendan dosis de 400 mg/kgldía por 5 días. mientras que Linder y colaboradores (28) aplican dosis más altas que permiten usar menor cantidad total de gamaglobulina, toda vez que los pacientes requieren menos aplicaciones.…”

Section: Policltemlaunclassified

Repercusión perinatal de los trastornos inmunológicos del embarazo

Cabarcas

1993

Iatreia

View full text Add to dashboard Cite

En esta revisión se analizan varios trastornos de índole inmunológica, comprobada o supuesta, que ocurren durante el embarazo, a saber: hipertensión, diabetes mellitus, hipertiroidismo, hipotiroidismo, trombocitopenia aloinmune y autoinmune, lupus eritematoso sistémico y miastenia gravis. En cada caso se describen la patogénesis y los efectos perinatales y se hacen consideraciones diagnósticas y terapéuticas para la orientación del obstetra y del pediatra.

show abstract

Study design and description of patients

Lutz¹,

Schmidt

Batzler

1990

Eur J Pediatr

View full text Add to dashboard Cite

A West German multicentre study (eight centres) of PKU was designed in 1976. The subjects of the study are the differential diagnosis, factors influencing the therapeutic outcome, and the extension of dietary therapy into adolescence. Between 1978 and 1984, 165 patients were enrolled, of whom 38 were of non-German nationality. The educational and occupational status of the West German parents were comparable to the population of the Federal Republic of Germany. In the central data bank located at the University Childrens Hospital in Heidelberg, data from recurrent medical examinations and from biochemistry, dietetics, neurology, psychometry and demography were collected. The differential diagnosis of the elevated plasma Phe level in the newborn period resulted in the detection of 2 patients with a PTPS-deficiency, and of 163 with an apo-enzyme defect. Depending upon the magnitude of the Phe levels during the first weeks of life, preliminary treatment groups were formed. They were revised at the age of 6 months with a protein challenge. The levels of Phe during the protein challenge resulted in three types of response. Of these, type III can apparently forgo dietary restrictions resulting in plasma Phe concentrations of around 10 mg/dl. Preliminary results of the whole study are now presented.

show abstract

EEG development in early treated PKU patients from birth to 6 years of age

Cited by 4 publications

References 16 publications

Geç tanı konulan 38 klasik fenilketonurili hastanın nörolojik açıdan değerlendirilmesi

Geç tanı konulan 38 klasik fenilketonurili hastanın nörolojik açıdan değerlendirilmesi

Repercusión perinatal de los trastornos inmunológicos del embarazo

Study design and description of patients

Contact Info

Product

Resources

About