Maple Syrup Urine Disease in an Infant with Microgyria

Martin, Jack; Norman, R. M.

doi:10.1111/j.1469-8749.1967.tb02236.x

Cited by 17 publications

(6 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Pathological changes have not been defined for most of these disorders, and whether these syndromes are true polymicrogyria or polymicrogyria-like cortical malformations is usually not clear. Polymicrogyria-like cortical malformations have been reported with several metabolic diseases with severe phenotypes, including Zellweger syndrome, 130,131 neonatal adreno leukodystrophy, 113 fumaric aciduria, 75 mitochondrial diseases, 132 glutaric aciduria type 2, 133 maple-syrup-urine disease, 134 and histidinaemia. 135 However, the histopathology differs from classic polymicrogyria for several of these disorders, especially the peroxisomal disorders and glutaric aciduria type 2.…”

Section: Polymicrogyria With or Without Schizencephalymentioning

confidence: 99%

Malformations of cortical development: clinical features and genetic causes

Guerrini

Dobyns

2014

The Lancet Neurology

412

345

View full text Add to dashboard Cite

Malformations of cortical development are common causes of developmental delay and epilepsy. Some patients have early, severe neurological impairment, but others have epilepsy or unexpected deficits that are detectable only by screening. The rapid evolution of molecular biology, genetics, and imaging has resulted in a substantial increase in knowledge about the development of the cerebral cortex and the number and types of malformations reported. Genetic studies have identified several genes that might disrupt each of the main stages of cell proliferation and specification, neuronal migration, and late cortical organisation. Many of these malformations are caused by de-novo dominant or X-linked mutations occurring in sporadic cases. Genetic testing needs accurate assessment of imaging features, and familial distribution, if any, and can be straightforward in some disorders but requires a complex diagnostic algorithm in others. Because of substantial genotypic and phenotypic heterogeneity for most of these genes, a comprehensive analysis of clinical, imaging, and genetic data is needed to properly define these disorders. Exome sequencing and high-field MRI are rapidly modifying the classification of these disorders.

show abstract

Section: Polymicrogyria With or Without Schizencephalymentioning

confidence: 99%

Malformations of cortical development: clinical features and genetic causes

Guerrini

Dobyns

2014

The Lancet Neurology

412

345

View full text Add to dashboard Cite

show abstract

“…Isolated cases have been reported with s u d a n o p h i l i c leucodystrophy , Erdohazi et al 1976, Pelizaeus Merzbacher's leucodystrophy (Seitelberger 1954), maple syrup urine disease (Martin andNorman 1967), homocystinuria (Chou andWaisman 1965), histidinaemia (Corner et al 1968) and Menkes' disease (Erdohazi et a/. Isolated cases have been reported with s u d a n o p h i l i c leucodystrophy , Erdohazi et al 1976, Pelizaeus Merzbacher's leucodystrophy (Seitelberger 1954), maple syrup urine disease (Martin andNorman 1967), homocystinuria (Chou andWaisman 1965), histidinaemia (Corner et al 1968) and Menkes' disease (Erdohazi et a/.…”

Section: Discussionmentioning

confidence: 99%

“…The association between white-matter disease and a developmental defect is 39 extremely rare. Isolated cases have been reported with s u d a n o p h i l i c leucodystrophy , Erdohazi et al 1976, Pelizaeus Merzbacher's leucodystrophy (Seitelberger 1954), maple syrup urine disease (Martin andNorman 1967), homocystinuria (Chou andWaisman 1965), histidinaemia (Corner et al 1968) and Menkes' disease (Erdohazi et a/. 1976).…”

Section: Discussionmentioning

confidence: 99%

Involvement of the Central Nervous System in Congenital Muscular Dystrophies

Egger¹,

Kendall

Erdohazi

et al. 1983

Develop Med Child Neuro

View full text Add to dashboard Cite

SUMMARY Three children, two siblings and one unrelated child, with congenital muscular dystrophy with central nervous system (CNS) involvement are discussed. The siblings appeared to suffer from a relatively mild myopathy with progressive brain disease, of which brain biopsy in one showed astrocytic proliferation in the white matter. In the patient with severe muscle disease, autopsy showed widespread patchy demyelination in the white matter and developmental abnormalities in the cerebral and cerebellar cortex. These patients differ from the Japanese (Fukuyama) cases of CMD in the severity of the changes in the cerebral white matter, and from Santavuori's cases in the absence of ocular abnormalities and hydrocephalus. Their unique nosology is discussed. RÉSUMÉ Atteinte du système nerveux central dans les myopathies congénitales L'article décrit trois enfants, dont deux apparentés, présentant une myopathie congénitale avec atteinte du systéme nerveux central (CNS). Les enfants apparentés semblaient avoir souffert d'une myopathie relativement modérée avec une atteinte cérébrale dégénérative, la biopsie cérébrale dans un cas montrant une prolifération astrocytique dans la substance blanche. Chez le dernier patient qui présentait une atteinte musculaire grave, l'autopsie a révélé une démyélinisation en plaques largement diffusée dans la substance blanche et des anomalies de développement dans les cortex cérébral et cérébelleux. Ces cas different des cas Japonais de myopathie (Fukuyama) par l'importance des modifications de la substance blanche cérébrale et des cas de Santavuori par l'absence d'anomalies oculaires et d'hydrocéphalie. La nosologie unique pour les trois cas est discutée. ZUSAMMENFASSUNG Beteiligung des Zentralnervensystems bei kongenitalen Muskeldystrophien Die Befunde von drei Kindern, zwei Geschwistern und einem nicht verwandten Kind, mit kongenitaler Muskeldystrophie und zentralnervöser (ZNS) Beteiligung werden diskutiert. Die Gescwister litten offenbar an einer milden Form der Myopathie mit einer progressiven Hirnerkrankung, die Hirnbiopsie des einen Geschwisterkindes ergab eine Astrozytenproliferation weßen Substanz. Bei dem Patienten mit schwerer Muskelerkrankung ergab die Autopsie eine ausgedehnt fleckförmige Demyelinisation der weißen Substanz und Entwicklungsstörungen im cerebralen und cerebellären Cortex. Diese Patienten unterscheiden sich von den japanischen Fällen (Fukujama) der CMD durch den Schweregrad der Veränderungen in der weißen Substanz des Gehirns und von den Fällen Santavuoris durch das Fehlen von Augenmißbildungen und Hydrocephalus. Die einmalige Nosologie wird diskutiert. RESUMEN Alteración del sistema nervioso central en las distrofias musculares congénitas Se discuten los casos de tres niños, dos hermanos y otro sin relación familiar, con distrofia muscular congénita, con afectación del Sistema nervioso central (SNC). Los hermanos padecian una miopatía relativamente moderada con enfermedad cerebral progresiva, en la que en un caso, una biopsia cerebral mostró una proliferación ...

show abstract

“…The micropolygyria in this case of an 11-year-old boy is considered a developmental anomaly due to a disturbance in the normal course of cellular proliferation and migration across the cerebral wall, and an interference with the arrangement of neurones in the characteristic laminar pattern. The 4th and 5th foetal months are thought to be the critical period for the formation of micropolygyria; it has been attributed to intrauterine cerebral anoxia and vascular anomalies, and reported with cytomegalic inclusion disease and in association with neurometabolic diseases and neuroectodermal dysplasias (Hallervorden, 1949;Morsier, 1952;Diezel, 1954;Bertrand and Gruner, 1955;Ostertag, 1925;Seitelberger, 1954;Martin and Norman, 1967;Nellhaus, Haberland et al 1967). In the present case neither the history nor the pathological examination revealed changes suggestive of a specific aetiology.…”

Section: Discussionmentioning

confidence: 99%