Forstner R, Hoffmann G F, Gassner I, Heideman P, De Klerk J B, Lawrenz-Wolf B, Doringer E, Weiss-Wichert P, Tröger J, Colombo J P, Plöchl E
Departments of Radiology, Paediatric Radiology and Paediatrics, LKA Salzburg, Austria.
Pediatr Radiol. 1999 Feb;29(2):138-43. doi: 10.1007/s002470050558.
Glutaric aciduria type I (GA-I) is a rare inherited metabolic disease with increased excretion of glutaric acid and its metabolites. Diagnosis is often delayed until the onset of irreversible neurological deficits.
We reviewed the clinical and imaging (US, CT and MRI) findings in six patients with proven GA-I and with emphasis on the early US findings. Coronal and sagittal US images of the brain were obtained through the anterior fontanelle in all patients. CT was obtained in three patients and MRI was obtained in two.
Macrocephaly was found in all patients, being present in three children at birth or developing rapidly within the first weeks of life. US showed, in all patients, bilateral symmetrical cyst-like dilatation of the sylvian fissures. Progressive fronto-temporal atrophy developed within the first months. CT and MRI demonstrated fronto-temporal atrophy with lack of opercularisation in all cases and basal ganglia or periventricular hypodensities in three patients.
In patients with macrocephaly at birth or rapidly developing within the first weeks of life, US should be performed as the primary imaging modality. Cyst-like bilateral widening of the sylvian fissures is the first sign of GA-I, followed by progressive fronto-temporal and ventricular enlargement. These patients should be screened for GA-I in order to initiate treatment in the asymptomatic stage.
I型戊二酸血症（GA-I）是一种罕见的遗传性代谢疾病，戊二酸及其代谢产物的排泄增加。诊断往往延迟到出现不可逆的神经功能缺损时。
我们回顾了6例经证实为GA-I患者的临床和影像学（超声、CT和MRI）检查结果，重点关注早期超声检查结果。所有患者均通过前囟获得大脑的冠状面和矢状面超声图像。3例患者进行了CT检查，2例患者进行了MRI检查。
所有患者均发现巨头症，3例患儿出生时即存在，或在出生后几周内迅速发展。超声显示，所有患者的大脑外侧裂均呈双侧对称性囊样扩张。在最初几个月内出现进行性额颞叶萎缩。CT和MRI显示，所有病例均有额颞叶萎缩且无脑岛形成，3例患者有基底节或脑室周围低密度影。
对于出生时即有巨头症或在出生后几周内迅速发展的患者，应将超声作为主要的影像学检查方法。大脑外侧裂双侧囊样增宽是GA-I的首个征象，随后出现进行性额颞叶和脑室扩大。应对这些患者进行GA-I筛查，以便在无症状阶段开始治疗。
