Pediatrics & Neonatology Unit, "Guglielmo da Saliceto" City Hospital, Cantone del Cristo, 50, 29121, Piacenza, Italy.
Neurology and Radiology Unit, "Guglielmo da Saliceto" City Hospital, Piacenza, Italy.
Ital J Pediatr. 2018 Jan 15;44(1):8. doi: 10.1186/s13052-018-0450-8.
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.
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.
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.
围产期窒息（PA）发生在大约每 1000 例足月活产中 2 至 10 例。尽管高达 60%的病例中观察到新生儿癫痫发作，但 PA 可能模仿或掩盖其他情况。缺氧相关的脑损伤尤为重要，因为它可能对神经心理运动发育产生永久性影响。产前产科情况反过来可能导致胎儿和新生儿缺氧缺血性损伤，这通常是 PA 的基础。在此，报告了一例隐藏并引发戊二酸血症 I 型（GA-I）的 PA 病例。
R.F. 在长时间分娩后足月通过诱导阴道分娩与 Kristeller 手法分娩。他表现出严重窒息和心搏停止。立即心肺复苏迅速恢复了心肺参数，允许在 30 分钟后及早拔管。在接下来的几个小时里，明显的轴向肌肉张力减退，肢体伸肌张力增加。哭声和原始反射持续缺失，出现全身性强直或阵挛性发作。一级代谢和炎症标志物均在正常范围内。由于持续存在严重神经损伤的临床迹象而没有任何可检测的感染参数，因此怀疑存在遗传性代谢疾病。评估了 GA-I，并开始了特定的治疗，但没有任何临床改善，尽管确保了适当的生长和代谢控制。此后，婴儿出现严重的脑病，伴有耐药性癫痫发作。神经损伤的进展和与中央导管相关的败血症导致他在 2 岁时死亡。
据我们所知，这是迄今为止文献中首例报道的早期产后 GA-I 发病病例，且缺乏扩展新生儿筛查（NBS）计划。由于代谢性疾病的扩展 NBS 计划尚未在国际上采用，我们认为，由于其他更常见的有害临床情况而导致的误导性体征和症状可能会掩盖此类疾病。此外，建议新生儿科医生接受培训，以便将 GA-I 纳入围产期窒息引起的神经损伤的鉴别诊断。
