Neurology Department, Mustapha Bacha University Hospital, Benyoucef Benkhedda University, Algiers, Algeria.
Neurology Department, Pitié Salpetriére University Hospital, Paris, France.
J Med Case Rep. 2022 Mar 26;16(1):134. doi: 10.1186/s13256-022-03268-z.
Congenital myasthenic syndromes caused by mutations in the COL13A1 gene are very rare and have a phenotype described as severe. We present the first case of congenital myasthenic syndrome described in Algeria and the Maghreb with a new mutation of this gene.
We present an 8-year-old Algerian female patient, who presented with a moderate phenotype with bilateral ptosis that fluctuates during the day and has occurred since birth. During the investigation, and despite the very probable congenital origin, we ruled out other diagnoses that could induce pathology of the neuromuscular junction. The genetic study confirmed our diagnosis suspicion by highlighting a new mutation in the COL13A1 gene.
We report a case with a mutation of the Col13A1 gene, reported in the Maghreb (North Africa), and whose phenotype is moderate compared with the majority of cases found in the literature.
COL13A1 基因突变导致的先天性肌无力综合征非常罕见，其表型描述为严重。我们报告了首例在阿尔及利亚和马格里布地区发现的该基因新突变所致先天性肌无力综合征病例。
我们报告了一位 8 岁的阿尔及利亚女性患者，表现为中度表型，存在双侧上睑下垂，且这种情况在白天波动，自出生以来就存在。在调查过程中，尽管很可能是先天性的，但我们排除了其他可能导致神经肌肉接头病变的诊断。基因研究通过突出 COL13A1 基因的新突变证实了我们的诊断假设。
我们报告了一例 Col13A1 基因突变病例，该病例发生在马格里布（北非），其表型与文献中大多数病例相比为中度。
