■异染性脑白质营养不良(MLD)是一种罕见的遗传性疾病,影响中枢和周围神经系统。它是由ARSA酶缺乏引起的,导致硫酸脂积累和髓鞘损伤。早期诊断至关重要,该病例突出了与MLD相关的诊断挑战和健康快速恶化。
■一个14个月大的男性,最初在排尿时出现发烧和哭泣,经历了毁灭性的健康衰退。以前,他已经取得了发展的里程碑,但很快失去了运动和认知技能。广泛的调查导致了MLD的诊断,复杂的严重营养不良。尽管有医疗干预,他的病情恶化了,导致心肺骤停和悲惨的结局.
■MLD是一种极其罕见的遗传性疾病,具有系统性影响,在这种情况下,如严重的代谢性酸中毒所示。早期诊断,通过像核磁共振这样的全面调查,是至关重要的,但MLD的快速发展给管理带来了挑战。治疗选择仍然有限,强调多学科方法的重要性。
■这个案例强调了MLD的阴险性质,强调在无法解释的神经系统退化中需要考虑罕见的遗传条件。它强调了提高认识的紧迫性,早期诊断,以及为受此类毁灭性疾病影响的个人提供全面护理。尽管面临挑战,医学界对提供护理和支持的奉献精神仍然坚定不移。
UNASSIGNED: Metachromatic leukodystrophy (MLD) is a rare genetic disorder affecting the central and peripheral nervous systems. It results from ARSA enzyme deficiency, causing sulfatide accumulation and myelin damage. Early diagnosis is crucial, and this case highlights the diagnostic challenges and rapid health deterioration associated with MLD.
UNASSIGNED: A 14-month-old male, initially presenting with fever and crying during micturition, experienced a devastating health decline. Previously, he had achieved developmental milestones but rapidly lost motor and cognitive skills. Extensive investigations led to an MLD diagnosis, complicated by severe malnutrition. Despite medical interventions, his condition worsened, leading to cardiopulmonary arrest and a tragic end.
UNASSIGNED: MLD is an exceedingly rare genetic disease with systemic effects, as illustrated by severe metabolic acidosis in this case. Early diagnosis, through comprehensive investigations like MRI, is critical, but MLD\'s rapid progression poses challenges in management. Therapeutic options remain limited, emphasizing the importance of a multidisciplinary approach.
UNASSIGNED: This case emphasizes the insidious nature of MLD, highlighting the need for considering rare genetic conditions in unexplained neurological regression. It underscores the urgency of improved awareness, early diagnosis, and comprehensive care for individuals affected by such devastating disorders. Despite the challenges, the medical community\'s dedication to providing care and support remains unwavering.