Phenylketonuria Presenting as Infantile Spasms with Sudden Mental Deterioration

Bower, B.; Jeavons, P. M.

doi:10.1111/j.1469-8749.1963.tb10723.x

Cited by 4 publications

(2 citation statements)

References 25 publications

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“…Supporting this, 5 patients receiving combined treatment showed amelioration in myelination on their follow‐up magnetic resonance imaging (MRI) . Other studies also reported PKU patients presenting with hypsarrhythmic EEG and/or IS (Table ).…”

Section: Metabolic Errors In Organic Moleculesmentioning

confidence: 99%

Metabolic etiologies in West syndrome

2018

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SummaryWest syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG) abnormalities including high amplitude, disorganized background with multifocal epileptic spikes (hypsarrhythmia), and often neurodevelopmental impairments. Approximately 64% of the patients have structural, metabolic, genetic, or infectious etiologies and, in the rest, the etiology is unknown. Here we review the contribution of etiologies due to various metabolic disorders in the pathology of WS. These may include metabolic errors in organic molecules involved in amino acid and glucose metabolism, fatty acid oxidation, metal metabolism, pyridoxine deficiency or dependency, or acidurias in organelles such as mitochondria and lysosomes. We discuss the biochemical, clinical, and EEG features of these disorders as well as the evidence of how they may be implicated in the pathogenesis and treatment of WS. The early recognition of these etiologies in some cases may permit early interventions that may improve the course of the disease.

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Section: Metabolic Errors In Organic Moleculesmentioning

confidence: 99%

Metabolic etiologies in West syndrome

2018

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“…Attempts have been made to account for the disease on a biochemical basis (Low et a / . 1958, Cochrane 1959, Bower 1961, Bower and Jeavons 1963. Hellstrorn and Vasella (1962) have also investigated this -~ aspect of the problem, but although it appears that a biochemical factor may be concerned, its exact nature has so far remained undetected.…”

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confidence: 99%

Infantile Spasms and Skin Anomalies

Crichton

1966

Develop Med Child Neuro

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SUMMARY Skin anomalies, especially involving pigmentation and haemangiomata, have been found in 43 out of 174 children suffering from a syndrome of infantile spasms. Theoretical considerations concerning the causation of some cases of infantile spasms are discussed. RÉSUMÉ Spasmus infantiles et anomalies de la peau Des anomalies de la peau, en particulier celles comprenant pigmentation et hémangiomes, ont été rencontrées chez 43 enfants parmi 174 souffrant d'un syndrome de spasmes infantiles. On discute des considérations théoriques concernant la causation de certains cas de spasms infantiles. ZUSAMMENFASSUNG Krämpfe und Haut‐Anomalien bei Kindern Haut‐Anomalien, im besonderen solche, die Pigmentierung und haemangiomata mit sich führen, wurden bei 43 von 174 Kindern gefunden, die an einem syndrome von Kinderkrämpfen litten. Theoretische Erwägungen, die die aetiologia in einigen Fällen von Kinderkrämpfen betreffen, werden besprochen. RESUMEN Espasmos infantiles y anomalias de la piel Se han encontrado anomalías de la piel, con respecto especialmente a la pigmentación y a la hemangiomatosis, en 43 de 174 niños afectos de un sindrome de espasmos infantiles. Se discuten consideraciones teoréticas tocante a la etiología de algunos casos de espasmos infantiles.

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Effectiveness of Dietary Treatment in Phenylketonuria: What is the Proof?

Herman

Waisman

Graham

1967

Develop Med Child Neuro

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SUMMARY An important question in assessing the effects of dietary treatment for PKU is whether or not ntelligence can be expected to decline without treatment. An earlier report by the present authors found that 22 diet‐treated children made a modest IQ gain which was significantly greater than that shown by their unaffected siblings. Age at the beginning of treatment was negatively related to initial IQ but, because of sampling bias, it could not be concluded that such a negative relation was characteristic of PKUS. However, a search of the literature has revealed 92 cases identified through sibship. In this group, decline of intelligence with age is also found. RÉSUMÉ Effcacité du traitement diététique duP.K.U. Quelle est lapreuve? Une question importante pour évaluer les effets d'un traitement diététique du PKU est de savoir si l'on s'attent à ce que l'intelligence décrolsse sans traitement ou non. Dans un rapport précédent, les auteurs ont trouvé que 22 enfants subis à un régime ont légèrement augmenté leur QI qui était supérieur de façon significative à celui de leurs frères et soeurs non‐affectés. L'âge au début du traitement était en proportion inverse du QI initial, mais, à cause du choix non sans préjudice des sujets étudiés, on n'a pas pu conclure qu'une telle relation négative soit caractéristique des PKUS. Pourtant, des recherches dans la littérature ont révélé 92 cas identifyés par leurs frères et soeurs. Dans ce groupe l'intelligence décliniat aussi avec l'âge. ZUSAMMENFASSUNG Wirksamkeit der Diätbehandlung von PKU Was ist der Beweis ? Eine wichtige Frage bei Einschätzung der Wirksamkeit von Diätbehandlung für PKU ist, ob man Verringerung der Intelligenz bei Nichtbehandlung erwarten kann. Ein früherer Bericht von den gegenwärtigen Authoren erwies, dass 22 diätbehandelte Kinder einen bescheidenen IQ‐Gewinn erzielten, der bedeutend grösser als der von ihren nichtbetroffenen Geschwistern war. Das Alter, bei Beginn der Behandlung, stand in negativer Beziehung zur anfänglichen IQ; man konnte jedoch wegen Proben‐Vorurteil nicht daraus schliessen, dass eine solche negative Beziehung charakteristisch für PKUS war. Jedoch offenbarte eine schriftliche Untersuchung 92 Fälle, die durch die Tatsache dass sie Geschwister waren identifiziert wurden. In dieser Gruppe war ebenfalls eine Verringerung der Intelligenz mit fortschreitendum Alter zu linden. RESUMEN La eficacia de un tratamiento dietético en casos de ‘PKU’ Qué evidencia hay ? Un factor importante en la valoración de los efectos de un tratamiento dietético en casos de PKU es saber si la intȩligencia disminuye de ordinario en los casos no tratados. Una investigación anterior por los autores de este trabajo hallo que 22 niños tratados por medio de una dieta mejoraron un poco su coeficiente de inteligencia, y que este mejoramiento era importante en comparacion con el de sus hermanos no afectos. La edad al comencimiento del tratamiento tenia correlaciones negativas con el C.I. inicial, pero, a consecuencia de una predispositión del muestreo, no se podio con...

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Phenylketonuria Presenting as Infantile Spasms with Sudden Mental Deterioration

Cited by 4 publications

References 25 publications

Metabolic etiologies in West syndrome

Metabolic etiologies in West syndrome

Infantile Spasms and Skin Anomalies

Effectiveness of Dietary Treatment in Phenylketonuria: What is the Proof?

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