Magnetic resonance imaging in lactic acidosis

Knaap, Marjo S. van der; Jakobs, Cornelis; Valk, Jacob

doi:10.1007/bf01799114

Cited by 28 publications

(13 citation statements)

References 50 publications

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“…Thus, all seven cases with the B form of PC deficiency for whom neurological imaging or pathology are available had confirmed cystic degeneration of periventricular white matter. As already noted by Van der Knaap et al [1996], the presence of cysts in the periventricular white matter in newborn infants with persistent lactic acidemia should suggest the diagnosis of PC deficiency.…”

Section: Discussionmentioning

confidence: 86%

Pyruvate carboxylase deficiency: Prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form

et al. 1999

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Pyruvate carboxylase (PC) is a key enzyme in the gluconeogenesis and anaplerotic metabolic pathways. PC deficiency is a rare autosomal recessive disorder with three clinical presentations: an infantile form, a severe neonatal form, and a benign form. We report brother and sister sibs with the severe form of PC deficiency. Both had macrocephaly and severe ischemia-like brain lesions at birth and died in the first week of life with intractable lactic acidemia. In the girl, increased head circumference and periventricular leukomalacia (PVL) were detected on fetal ultrasonography at 29.4 weeks of gestation. PC activity in cultured skin fibroblasts was <2% of control. This is the first reported case of ischemia-like brain lesions documented prenatally in PC deficiency. The lesions were detected at a time of maximal periventricular metabolic demand. We postulate that energy deprivation induced by PC deficiency impairs astrocytic buffering capacity against excitotoxic insult and compromises normal microvascular morphogenesis and autoregulation, both mechanisms leading to cystic degeneration of the periventricular white matter. Discovery of cystic PVL on cerebral ultrasound at birth in a newborn infant presenting with primary lactic acidemia is highly suggestive of PC deficiency. Moreover, PC deficiency should also be considered when ischemia-like brain lesions are documented by fetal ultrasonography.

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Section: Discussionmentioning

confidence: 86%

Pyruvate carboxylase deficiency: Prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form

et al. 1999

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“…With the exception of the cysts, a similar pattern of neuroimaging abnormalities can be seen in several inborn errors of metabolism with an early-onset severe encephalopathy, including Menkes' disease, 32,33 Alpers' disease, 34,35 and glutaric aciduria type I, although in the latter disease subependymal cysts may be present too. 36 Considering the age at which the cysts are present (neonatal and early infantile period), their typical disappearance with advancing age, and their localization, it is highly probable that these are subependymal germinolytic pseudocysts, 37,38 which have been observed in several conditions including congenital infections and chromosomal abnormalities, 37-39 but rarely and variably in inborn errors of metabolism.…”

Section: Discussionmentioning

confidence: 86%

D-2-Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?

Knaap¹,

Jakobs²,

Hoffmann³

et al. 1999

Ann Neurol.

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D‐2‐Hydroxyglutaric aciduria has been observed in patients with extremely variable clinical symptoms, creating doubt about the existence of a disease entity related to the biochemical finding. An international survey of patients with D‐2‐hydroxyglutaric aciduria was initiated to solve this issue. The clinical history, neuroimaging, and biochemical findings of 17 patients were studied. Ten of the patients had a severe early‐infantile‐onset encephalopathy characterized by epilepsy, hypotonia, cerebral visual failure, and little development. Five of these patients had a cardiomyopathy. In neuroimaging, all patients had a mild ventriculomegaly, often enlarged frontal subarachnoid spaces and subdural effusions, and always signs of delayed cerebral maturation. In all patients who underwent neuroimaging before 6 months, subependymal cysts over the head or corpus of the caudate nucleus were noted. Seven patients had a much milder and variable clinical picture, most often characterized by mental retardation, hypotonia, and macrocephaly, but sometimes no related clinical problems. Neuroimaging findings in 3 patients variably showed delayed cerebral maturation, ventriculomegaly, or subependymal cysts. Biochemical findings included elevations of D‐2‐hydroxyglutaric acid in urine, plasma, and cerebrospinal fluid in both groups. Cerebrospinal fluid γ‐aminobutyric acid was elevated in almost all patients investigated. Urinary citric acid cycle intermediates were variably elevated. The conclusion of the study is that D‐2‐hydroxyglutaric aciduria is a distinct neurometabolic disorder with at least two phenotypes. Ann Neurol 1999;45:111–119

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“…Unfortunately, mitochondrial disease represents a class of disease in which MRI findings, if present, are non-specific or change over time, greatly lowering its diagnostic sensitivity [25][26][27]. However, a new neuroimaging technique, proton magnetic resonance spectroscopy (MRS) has evolved from which important metabolic information can be derived utilizing the same acquisition parameters needed for MRI.…”

Section: Mrs-based Central Nervous System Biochemical Analysismentioning

confidence: 99%

The in-depth evaluation of suspected mitochondrial disease

Haas

Parikh

Falk

et al. 2008

Molecular Genetics and Metabolism

313

300

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Mitochondrial disease confirmation and establishment of a specific molecular diagnosis requires extensive clinical and laboratory evaluation. Dual genome origins of mitochondrial disease, multiorgan system manifestations, and an ever increasing spectrum of recognized phenotypes represent the main diagnostic challenges. To overcome these obstacles, compiling information from a variety of diagnostic laboratory modalities can often provide sufficient evidence to establish an etiology. These include blood and tissue histochemical and analyte measurements, neuroimaging, provocative testing, enzymatic assays of tissue samples and cultured cells, as well as DNA analysis. As interpretation of results from these multifaceted investigations can become quite complex, the Diagnostic Committee of the Mitochondrial Medicine Society developed this review to provide an overview of currently available and emerging methodologies for the diagnosis of primary mitochondrial disease, primarily focusing on disorders characterized by impairment of oxidative phosphorylation. The aim of this work is to facilitate the diagnosis of mitochondrial disease by geneticists, neurologists, and other metabolic specialists who face the challenge of evaluating patients of all ages with suspected mitochondrial disease.

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Magnetic resonance imaging in lactic acidosis

Cited by 28 publications

References 50 publications

Pyruvate carboxylase deficiency: Prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form

Pyruvate carboxylase deficiency: Prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form

D-2-Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?

The in-depth evaluation of suspected mitochondrial disease

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