Mohammadian Khonsari Nami, Hakak-Zargar Benyamin, Voth Tessa, Noorian Shahab
Research Committee, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran.
Faculty of Health Sciences, Simon Fraser University, Burnaby, British Columbia, Canada.
Endocrinol Diabetes Metab Case Rep. 2020 Sep 23;2020. doi: 10.1530/EDM-20-0128.
Multiple sulfatase deficiency (MSD) is a lysosomal storage disorder (LSD) that results in the accumulation of sulfate esters which go on to cause neurological deterioration and mental delay, skin changes, and dysmorphism. The disease can be categorized into three subtypes based on the age of onset: neonatal, late infantile, or juvenile. Our patient is a 2.5-year-old girl, the only child of a healthy couple. Prior to the presentation of the disease, she had not been noted to have any previous health complications. The condition began at the age of 6 months with developmental regression and global hypotonia. Following thorough evaluation and testing, the patient was diagnosed with severe late infantile MSD, although some features, such as minimal mental deterioration, minimal dysmorphic facial features, and minimal organ enlargement, did not fully correlate with the diagnosis, since in cases of severe forms of the condition these features are almost always quite marked. The unexpected minimalism of some of the patient's MSD signs in spite of the severity of her MSD condition made her case worth further studying.
Treating dermatologic signs and symptoms greatly eased our patient's discomfort. We would suggest the use of appropriate supportive treatment for symptom management regardless of the life expectancy of the patient. As regards the diagnosis of MLD, given that in some cases the patient may present with irregular features of the condition, a genetic evaluation may be useful for accurate diagnosis. If motor function impairment is followed by dermatologic involvement, as seen in our patient and in many cases in the literature, MSD must be considered, and additional tests should be done to rule it out.
多种硫酸酯酶缺乏症（MSD）是一种溶酶体贮积症（LSD），会导致硫酸酯积累，进而引起神经功能恶化、智力发育迟缓、皮肤改变和畸形。根据发病年龄，该疾病可分为三种亚型：新生儿型、晚婴儿型或青少年型。我们的患者是一名2.5岁女孩，是一对健康夫妇的独生女。在疾病出现之前，未发现她有任何既往健康问题。病情始于6个月大时，出现发育倒退和全身肌张力减退。经过全面评估和检查，患者被诊断为重度晚婴儿型MSD，不过一些特征，如轻度智力衰退、轻度面部畸形特征和轻度器官肿大，与诊断并不完全相符，因为在该疾病的严重形式中，这些特征几乎总是很明显。尽管患者的MSD病情严重，但某些MSD体征却出人意料地不明显，这使得她的病例值得进一步研究。
治疗皮肤体征和症状极大地缓解了我们患者的不适。我们建议无论患者预期寿命如何，都应使用适当的支持性治疗来管理症状。关于MSD的诊断，鉴于在某些情况下患者可能表现出该疾病的不典型特征，基因评估可能有助于准确诊断。如果像我们的患者以及文献中的许多病例那样，在运动功能受损后出现皮肤受累情况，必须考虑MSD，并应进行额外检查以排除该病。
