背景:围产期窒息(PA)发生在每1000个活产足月分娩中约2至10个。尽管在多达60%的病例中观察到新生儿癫痫发作,PA可以模仿或对抗其他条件。缺氧相关的脑损伤尤其相关,因为它可能对神经精神运动发育有永久影响。产前产科条件,may,反过来,导致胎儿和新生儿缺氧缺血性损伤,通常是PA的基础。在这里,一例PA隐藏并触发了I型戊二酸尿症(GA-I)的体征和症状,据报道。
方法:R.F.在长期分娩后足月出生,通过Kristeller操作诱导阴道分娩。他表现为严重的窒息和痉挛。立即心肺复苏迅速恢复心肺参数,允许在30分钟后早期拔管。在接下来的几个小时里,随着肢体伸肌张力增加,严重的轴向肌张力减退变得明显。持续没有哭泣和古老的反射,并且出现了全身性强直或阵挛性癫痫发作。一级代谢和炎症标志物在正常范围内。然后怀疑是遗传性代谢疾病,由于持续的严重神经损伤的临床症状,没有任何可检测到的脓毒症参数。对GA-I进行了评估,并开始了特定的治疗,但没有任何临床改善,虽然确保足够的生长和代谢控制。此后,婴儿出现了严重的脑病,并伴有抗药性癫痫发作。神经损伤的进展和CVC相关的败血症导致他在2年时退出。
结论:据我们所知,这是迄今为止文献报道的首例出生后早期GA-I的病例,在没有扩大新生儿筛查(NBS)计划的情况下。由于NBS针对先天性代谢错误的扩展计划尚未在国际上采用,我们认为,这些疾病很可能被误导的体征和症状掩盖,这些症状和症状可归因于其他更常见的有害临床疾病。此外,在PA继发神经损伤的鉴别诊断中,建议对新生儿科医生进行培训,将GA-I纳入其中.
BACKGROUND: Perinatal asphyxia (PA) occurs in about 2 to 10 per 1000 live full-term births. Although neonatal epileptic seizures are observed in up to 60% of cases, PA may mimic or subtend other conditions. Hypoxia related brain injury is particularly relevant, as it may have permanent effects on neuropsychomotor development. Antepartum obstetric conditions, may, in turn, lead to hypoxic-ischemic damage to the fetus and the newborn, often underlying PA. Herein, a
case of PA that hid and triggered signs and symptoms of Glutaric Aciduria type I (GA-I), is reported.
METHODS: R.F. was born at term after prolonged labour, by induced vaginal delivery with the Kristeller manoeuvre. He presented with severe asphyxia and asystoly. Immediate cardiopulmonary resuscitation promptly restored cardiorespiratory parameters, allowing for early extubation 30 min after. During the following hours, severe axial muscle hypotonia with an increased tone of the limb extensor muscles became evident. The absence of crying and archaic reflexes persisted and there was an onset of generalized tonic or clonic seizure. First level metabolic and inflammatory markers were within the normal range. An inherited metabolic disease was then suspected, due to the persistent clinical signs of severe neurological damage without any detectable septic parameter. GA-I was assessed and specific treatment started without any clinical improvement, although ensuring adequate growth and metabolic control. Thereafter, the baby developed a severe encephalopathy with drug resistant epileptic seizures. The progression of the neurological damage and a CVC-related sepsis led him to exitus at 2 years.
CONCLUSIONS: To the best of our knowledge, this is the first
case of early post-natal onset of GA-I reported in literature to date, in the absence of expanded newborn screening (NBS) programme. As expanded NBS programmes for inborn errors of metabolism have not yet been internationally adopted, we are of the opinion that such diseases may well be hidden by misleading signs and symptoms imputable to other more frequent harmful clinical conditions. Moreover, it would be advisable that neonatologists be trained to include GA-I in the differential diagnosis of neurological damage secondary to PA.