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Intracranial Calcification Associated with 3-Methylcrotonyl-CoA Carboxylase Deficiency
Molecular Syndromology ( IF 1.1 ) Pub Date : 2021-08-26 , DOI: 10.1159/000517272
Süleyman Şahin 1 , Miraç Yıldırım 1 , Ömer Bektaş 1 , İlknur Sürücü Kara 2 , Ahmet Cevdet Ceylan 3, 4 , Serap Teber 1
Affiliation  

3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency is the most frequent organic aciduria detected in newborn screening programs. It demonstrates a variable heterogeneous clinical phenotype, ranging from neonatal onset with severe neurological disorders to asymptomatic adult forms. Herein, we report the first 2 related cases of 3-MCC deficiency presenting with intracranial calcification in the literature. A girl and a boy aged 3 years, 9 months and 4 years were included in the study. The main clinical manifestations were acquired microcephaly, global developmental delay, intractable seizures, mild feeding difficulty, and intermittent dystonic contractions. On physical and neurological examinations, their weights, heights, and head circumferences were below the 3rd percentile, they had acquired microcephaly, truncal hypotonia, upper and lower limb spasticity, hyperreflexia, positive bilateral Babinski signs, and clonus. The detailed biochemical and metabolic tests were unremarkable, except blood 3-hydroxyisovalerylcarnitine (C5OH) was slightly increased in case 1. Cranial computed tomography demonstrated mild cerebral and cerebellar atrophy as well as bilateral periventricular and thalamic calcifications in both cases. We identified a homozygous mutation of c.1015G#x3e;A (p.V339M) in the MCCC2gene, and the mutation was confirmed by Sanger sequencing. To the best of our knowledge, our cases are the first reported describing intracranial calcification in cases with 3-MCC deficiency. This report expands on the underlying causes of intracranial calcifications and suggests that 3-MCC deficiency may have intracranial calcifications on bilateral thalamus and periventricular white matters. If clinical findings show intracranial calcification, 3-MCC deficiency should also be kept in mind.
Mol Syndromol


中文翻译:

与 3-甲基巴豆酰辅酶 A 羧化酶缺乏相关的颅内钙化

3-甲基巴豆酰辅酶A羧化酶(3-MCC)缺乏症是新生儿筛查项目中最常见的有机酸尿症。它表现出可变的异质临床表型,从具有严重神经系统疾病的新生儿发病到无症状的成人形式。在此,我们报告了文献中出现颅内钙化的前 2 例 3-MCC 缺陷相关病例。研究中包括一名年龄分别为 3 岁、9 个月和 4 岁的女孩和一名男孩。主要临床表现为获得性小头畸形、全身发育迟缓、顽固性癫痫发作、轻度喂养困难和间歇性肌张力障碍性收缩。在身体和神经系统检查中,他们的体重、身高和头围均低于第 3 个百分位,他们患有小头畸形、躯干张力减退、上下肢痉挛、反射亢进、双侧巴宾斯基征阳性和阵挛。详细的生化和代谢测试无异常,除了病例 1 的血液 3-羟基异戊酰肉碱 (C5OH) 略有升高。颅骨计算机断层扫描显示两例脑和小脑轻度萎缩以及双侧脑室周围和丘脑钙化。我们发现了 c.1015G#x3e;A (p.V339M)MCCC2基因,Sanger测序证实该突变。据我们所知,我们的病例是第一个报道 3-MCC 缺乏症患者颅内钙化的病例。本报告扩展了颅内钙化的根本原因,并提出 3-MCC 缺乏可能导致双侧丘脑和脑室周围白质出现颅内钙化。如果临床发现显示颅内钙化,还应牢记 3-MCC 缺乏症。
摩尔综合症
更新日期:2021-08-26
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