Macrocephaly, dystonia, and bilateral temporal arachnoid cysts: glutaric aciduria type 1

Jf, Martínez-Lage; C, Casas Fernández; Ma, Fernández; Puche, Antonio Martínez; T, Rodríguez Costa; Poza, Máximo

doi:10.1007/bf00301092

Cited by 52 publications

(23 citation statements)

References 19 publications

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“…Subdural haemorrhage in GA-I may be mistaken with shaken baby syndrome and vice versa (Hartley et al 2000; Morris et al 1999). Bitemporal arachnoid cysts have been described in some affected patients and should result in a high suspicion for GA-I (Hald et al 1991; Jamjoom et al 1995; Lücherath et al 2000; Martinez-Lage et al 1994), whereas unilateral arachnoid cysts are a rare occurence in this disease.…”

Section: Management Of Neurologic Complicationsmentioning

confidence: 99%

Diagnosis and management of glutaric aciduria type I – revised recommendations

Kölker

Christensen²,

Leonard

et al. 2011

J of Inher Metab Disea

281

238

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Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury which results from encephalopathic crises precipitated by infectious diseases, immunizations and surgery during a finite period of brain development, or develops insidiously without clinically apparent crises. Glutaric aciduria type I is caused by inherited deficiency of glutaryl-CoA dehydrogenase which is involved in the catabolic pathways of L-lysine, L-hydroxylysine and L-tryptophan. This defect gives rise to elevated glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine which can be detected by gas chromatography/mass spectrometry (organic acids) or tandem mass spectrometry (acylcarnitines). Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Metabolic treatment that includes a low lysine diet, carnitine supplementation and intensified emergency treatment during acute episodes of intercurrent illness should be introduced and monitored by an experienced interdisciplinary team. However, initiation of treatment after the onset of symptoms is generally not effective in preventing permanent damage. Secondary dystonia is often difficult to treat, and the efficacy of available drugs cannot be predicted precisely in individual patients. The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline.Electronic supplementary materialThe online version of this article (doi:10.1007/s10545-011-9289-5) contains supplementary material, which is available to authorized users.

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Section: Management Of Neurologic Complicationsmentioning

confidence: 99%

Diagnosis and management of glutaric aciduria type I – revised recommendations

Kölker

Christensen²,

Leonard

et al. 2011

J of Inher Metab Disea

281

238

View full text Add to dashboard Cite

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“…The prominence of the subarachnoid spaces is said generally to resolve in early childhood [9, 11, 12, 13], but the temporal course of this resolution has not been documented in detail. A family history consistent with autosomal dominant transmission is commonly present [11, 14], but prominence of the subarachnoid spaces, with or without macrocephaly, has been described as symptomatic of a variety of conditions, including glutaric acidemia type 1 [15, 16, 17, 18, 19, 20, 21, 22], achondroplasia [23], osteogenesis imperfecta [24, 25], Sotos syndrome [26, 27], Kniest disease [28], congenital myotonic dystrophy [29], occipital plagiocephaly [30], chronic glucocorticoid administration [31, 32]and hypomagnesemia [33]. …”

Section: Introductionmentioning

confidence: 99%

Monozygotic Twins Discordant for External Hydrocephalus

Piatt

2001

Pediatr Neurosurg

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External hydrocephalus (EH) is a transient, developmental condition in infancy characterized by macrocephaly and prominence of the subarachnoid spaces. The cause is unknown, but many patients have a family history consistent with autosomal dominant inheritance. This report describes a pair of monozygotic twins, only one of whom – the recipient of a twin-twin transfusion – has EH. Whatever the genotype of the twins, their discordant phenotypes suggest that the disproportionate calvarial growth that characterizes EH is set in motion – or not – during a limited, critical temporal window in fetal development.

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“…In the majority of patients, basal ganglia abnormalities, the incomplete opercularization of the insular cortex with widening of the Sylvian fissures and CSF spaces can be seen. Additionally, subdural collections of fluid over the convexities with bilateral temporal arachnoid cysts have been reported [19,20]. Subdural hematomas suggestive of non-accidental trauma have been reported, making it mandatory to rule out GA-1 in cases of suspected non-accidental trauma [21,22].…”

Section: Discussionmentioning

confidence: 99%

Perioperative Management of a Patient With Glutaric Aciduria

et al. 2015

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Glutaric aciduria type-1 (GA-1) is an autosomal recessive metabolic disorder due to the deficiency of the enzyme, glutaryl-CoA dehydrogenase. The enzymatic defect leads to secondary damage to the central nervous system due to the accumulation of glutaric acid. Due to the progressive neurologic effects with spasticity and orthopedic deformities, surgical and anesthetic cares are frequently required. We present a 13-year-old girl with glutaric acidemia type 1 who required anesthetic care for posterior spinal fusion. Previous reports of anesthetic care for these patients are reviewed, the end-organ involvement is discussed, and options for anesthetic care are presented.

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Macrocephaly, dystonia, and bilateral temporal arachnoid cysts: glutaric aciduria type 1

Cited by 52 publications

References 19 publications

Diagnosis and management of glutaric aciduria type I – revised recommendations

Diagnosis and management of glutaric aciduria type I – revised recommendations

Monozygotic Twins Discordant for External Hydrocephalus

Perioperative Management of a Patient With Glutaric Aciduria

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