Macrocephaly: an important indication for organic acid analysis

Hoffmann, Georg F.; Trefz, F. K.; Barth, P. G.; Böhles, H; Lehnert, W.; Christensen, Ernst; Valk, J.; Rating, D.; Bremer, H. J.

doi:10.1007/bf01811695

Cited by 28 publications

(16 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The appearance of the anterior temporal lobe and Sylvian fissure in infants is similar to stages of normal development, gyration and opercularization occurring latest in the fronttemporal area. Moreover CSF spaces have been observed to normalize in GA1 patients with early diagnosis and treatment [18, 19, 31–33], for which reason widened anterior temporal and Sylvian CSF spaces in GA1 are consistent with arrested development of the anterior temporal and frontal lobes, namely frontotemporal hypoplasia, but not with atrophy, as there is primarily no irreversible loss of tissue.Similar to patients diagnosed in infancy and childhood, frontotemporal hypoplasia is the most common and characteristic imaging finding in late-onset patients. Frontotemporal hypoplasia persisted in our three late-onset patients over follow-up periods between 7 and 12 years suggesting that normalization is only possible up to a certain period of time.…”

Section: Discussionmentioning

confidence: 99%

“…Initial values were not available for the high-excreting patient 7, however, concentration on follow-up investigation was clearly elevated > 100 mmol GA/mol creatinine and thus within the range for high excretors [1]. It is known that urinary concentrations of GA and 3-OH GA remain elevated in high excretors despite some reduction with dietary treatment and do not decrease to the range of low excretors (<100 mmol/mol creatinine) [4, 19, 20]. …”

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

Boy

Heringer

Brackmann

et al. 2017

Orphanet J Rare Dis

View full text Add to dashboard Cite

BackgroundWithout neonatal initiation of treatment, 80–90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder. Onset of motor symptoms may be acute following encephalopathic crisis or insidious without apparent crisis. Additionally, so-called late-onset GA1 has been described in single patients diagnosed after the age of 6 years. With the aim of better characterizing and understanding late-onset GA1 we analyzed clinical findings, biochemical phenotype, and MRI changes of eight late-onset patients and compared these to eight control patients over the age of 6 years with early diagnosis and start of treatment.ResultsNo late-onset or control patient had either dystonia or striatal lesions on MRI. All late-onset (8/8) patients were high excretors, but only four of eight control patients. Two of eight late-onset patients were diagnosed after the age of 60 years, presenting with dementia, tremor, and epilepsy, while six were diagnosed before the age of 30 years: Three were asymptomatic mothers identified by following a positive screening result in their newborns and three had non-specific general symptoms, one with additional mild neurological deficits. Frontotemporal hypoplasia and white matter changes were present in all eight and subependymal lesions in six late-onset patients. At comparable age a greater proportion of late-onset patients had (non-specific) clinical symptoms and possibly subependymal nodules compared to control patients, in particular in comparison to the four clinically and MR-wise asymptomatic low-excreting control patients.ConclusionsWhile clinical findings are non-specific, frontotemporal hypoplasia and subependymal nodules are characteristic MRI findings of late-onset GA1 and should trigger diagnostic investigation for this rare disease. Apart from their apparent non-susceptibility for striatal injury despite lack of treatment, patients with late-onset GA1 are not categorically different from early treated control patients. Differences between late-onset patients and early treated control patients most likely reflect greater cumulative neurotoxicity in individuals remaining undiagnosed and untreated for years, even decades as well as the higher long-term risk of high excretors for intracerebral accumulation of neurotoxic metabolites compared to low excretors.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-017-0612-6) contains supplementary material, which is available to authorized users.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

Boy

Heringer

Brackmann

et al. 2017

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…In our case, histological and immunohistochemical analyses concluded that the PRC developed from an extraovarian Müllerian issue. Preoperative localization of tumors within the retroperitoneal space is challenging 7 , but can be aided by real-time ultrasound analysis 8 . Retroperitoneal abscesses are rarely encountered, but they develop insidiously and are associated with significant mortality 9 .…”

Section: Primary Retroperitoneal Endometrial Cystadenocarcinoma Presementioning

confidence: 99%

“…Macrocephaly is the pivotal clinical sign in GA 1 patients in the postnatal period, as it is the earliest and the most consistent sign according to the largest series published 6,7 . Development of macrocephaly usually occurs early in the neonatal period, typically within the first weeks after delivery, but has also been described at birth and even in the prenatal period 5,6 .…”

mentioning

confidence: 99%

Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case

Mellerio

Marignier

Roth

et al. 2008

Ultrasound in Obstet & Gyne

View full text Add to dashboard Cite

“…Sisatrakuryum "train of four (TOF)" yanıtına göre titre edildi ve ameliyat süresince TOF düzeyi 0 ile 0,2 arasında seyretti. Ventilasyonda FiO 2 0,4 olacak şekilde oksijen hava karışımı kullanıldı, ventilatör, etCO 2 …”

Section: Olgu Sunumuunclassified

The anaesthetic management of temporal tumor resection in a patient with type 1 glutaric aciduria

Dilmen¹,

Akçıl²,

Tunalı³

et al. 2013

Turk J Anesth Reanim

View full text Add to dashboard Cite

nukleus ve putamende nöron dejenerasyonu ile karakterizedir (2). Serebral hasar, glutarik asidin nöronlara doğrudan etkisi ile meydana gelir (3). Fizyolojik stres ya da enfeksiyon gibi nedenlerle, glutarik asit kan-beyin bariyerini geçerek akut nörolojik kriz gelişmesini hızlandırır. Hastalığın akut fazı haricinde hipoglisemi ve metabolik asidoz nadirdir. Düşük proteinli ve riboflavin, karnitin desteği içeren diyet uygulanmasıyla akut ensefalopatik krizler ve böylece morbidite ve mortalite azalmaktadır. Kranyal tomografi bulguları; subdural sıvı birikmesi, bilateral temporal araknoid kist ve hidrosefalidir.Literatürde genel anestezi uygulanan GA-1 olguları çok az sayıda olup, uzun süreli anestezi uygulanan GA-1 olgusuna ise rastlanmamıştır (4-6). Bu yazıda, GA-1 olan ve sekiz saat süren temporal tümör rezeksiyonu ameliyatı uygulanan, 16 yaşındaki hastada anestezi yöntemi-nin paylaşılması amaçlanmıştır. Olgu SunumuTip-1 glutarik asidüri tanılı, 16 yaşındaki, erkek hastanın klinik muayene bulguları; mental retardasyon, ataksi, distoni, tetraparezi ve makrosefaliydi (oksipitofrontal çevre uzunluğu 59 cm). Boyu 175 cm, kilosu 62 kg olarak ölçüldü. Manyetik rezonans incelemelerinde kistik ve solid yapılar içeren sol temporal lezyon saptandı. Anne ve babası akraba değildi. Laboratuar bulgularında GA-1 tanısını doğrulayacak şekilde idrar glutarik asid düzeyi 310 nmol mol -1 (normal <3 nmol mol -1 ) idi. Olguyu sunmak için anne ve babasının onamları alındı. İki mg intravenöz midazolam premedikasyonunu takiben, elektrokardiyografi, FiO 2 , oksijen satürasyonu, soluk sonu CO 2 (etCO 2 ), kan basıncı monitörize edildi (Datex-Engström, ADU. Finlandiya). Anestezi indüksiyonu, propofol (2 mg kg -1 ), sisatrakuryum (0,2 mg kg -1 ) ve remifentanil (0,1 µg kg -1 ) ile sağlandı. Krikoid bası altında 6,5 mm numaralı endotrakeal tüple entübasyonu takiben, propofol (2,5 mg kg -1 ) ve remifentanil (0,05-0,1 µg kg -1 ) infüzyonları ile anestezi idame ettirildi. Özofagus sıcaklığı ve sağ radial arter kateteri aracılığıyla invazif arter basıncı monitörize edildi. Sisatrakuryum "train of four (TOF)" yanıtına göre titre edildi ve ameliyat süresince TOF düzeyi 0 ile 0,2 arasında seyretti. Ventilasyonda FiO 2 0,4 olacak şekilde oksijen hava karışımı kullanıldı, ventilatör, etCO 2 düzeyi 32-33 mmHg olacak şekilde ayarlandı. Ameliyat sırasında sıvı replasmanı %5 dekstroz 0,45 NaCl solüsyonu

show abstract

Macrocephaly: an important indication for organic acid analysis

Cited by 28 publications

References 4 publications

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case

The anaesthetic management of temporal tumor resection in a patient with type 1 glutaric aciduria

Contact Info

Product

Resources

About