Gajbhiye Varsha, Lamture Yashwant, Uke Punam
Pediatrics, Jawaharlal Nehru Medical College, Wardha, IND.
Surgery, Datta Meghe Institute of Medical Sciences, Wardha, IND.
Cureus. 2022 Dec 31;14(12):e33155. doi: 10.7759/cureus.33155. eCollection 2022 Dec.
Metachromatic leukodystrophy (MLD) is the typical white matter disease belonging to the lysosomal sphingolipid storage group and is a genetic autosomal recessive disorder. Early presentation is in the form of learning disability and behavioral issues; the subsequent involvement is gait and balance. Prenatal blood testing for genetic screening is available for arylsulfatase A (ARSA) deficiency is indicated if the family history is positive for MLD. Diagnostic tools for MLD are- absence or low-level arylsulfatase activity in genetic screening, sulphatides in urine, and magnetic resonance image (MRI) showing frontal horns and atrial periventricular leukodystrophy. The typical finding is known as the trigonid pattern. A two and half-year-old boy was born out of marriage in near blood relation. No prenatal screening was done. As narrated by the mother, the patient was alright six months back when he gradually developed lower limb weakness. Due to this, he stopped walking, which he could initially do without support. The parent also complained that he used to speak fifteen to twenty words, and now he is not saying a single word. With the above complaint, the patient was taken to the local hospital, where an MRI showed periventricular leukodystrophy, suggesting metachromatic leukodystrophy of periventricular white matter. The practice of prenatal and newborn genetic screening could enhance the efficacy of management, as early interventions are more effective.
异染性脑白质营养不良（MLD）是属于溶酶体鞘脂贮积症组的典型白质疾病，是一种常染色体隐性遗传疾病。早期表现为学习障碍和行为问题；随后会影响步态和平衡。如果家族史中MLD呈阳性，则可通过产前血液检测进行基因筛查以检测芳基硫酸酯酶A（ARSA）缺乏症。MLD的诊断工具包括基因筛查中芳基硫酸酯酶活性缺失或水平降低、尿液中的硫脂以及磁共振成像（MRI）显示额角和脑室周围白质营养不良。典型表现称为三角区模式。一名两岁半的男孩是非近亲婚姻所生。未进行产前筛查。据母亲叙述，患儿六个月前还正常，后来逐渐出现下肢无力。因此，他停止了行走，而他起初无需支撑就能行走。家长还抱怨说，他过去能说十五到二十个单词，现在一个字也不说了。带着上述症状，患儿被送往当地医院，在那里MRI显示脑室周围白质营养不良，提示脑室周围白质异染性脑白质营养不良。产前和新生儿基因筛查的实施可以提高治疗效果，因为早期干预更有效。
