背景:特发性颅内高压是一种在没有脑脊液流出道阻塞的情况下颅内压升高的疾病,肿块病变,或其他根本原因。这是青春期前儿童的罕见现象,最常见于育龄妇女。经典的演讲包括头痛,恶心,呕吐,和视觉变化;然而,孩子们表现得更不典型。我们报告了一个在其他方面健康的特发性颅内高压的病例,4岁儿童,具有类似于周期性呕吐综合征的非典型症状。
方法:一个4岁的高加索人,否则健康,男性儿童出现在我们的急诊科,每1-3周发生一次间歇性早间呕吐,没有间断性症状,从10个月前开始。门诊代谢,自身免疫,内分泌,过敏,和胃肠病学检查都不引人注目,他最初被诊断为周期性呕吐综合征。症状发作后10个月,在脑部磁共振成像中发现轻度视神经鞘扩张导致住院和腰椎穿刺,开口压力为47mmHg。细胞计数和蛋白质水平正常。在扩大的眼底镜检查中,他的视力或视盘水肿没有变化。病人开始服用乙酰唑胺,在出院后12周的最后一次随访中,阵发性呕吐得到了解决。
结论:特发性颅内高压在青春期前儿童中表现不典型,大约四分之一的人渐近地出现,只有13-52%的人出现“经典”症状。每100,000的患病率仅为0.6-0.7,关于该人口统计学中潜在的病理生理学,仍然未知。周期性呕吐综合征,然而,这个年龄段的患病率要高得多,患病率为0.4-1.9/100。它被认为是特发性的,童年的周期性障碍,通常与腹部偏头痛等神经系统疾病有关,癫痫,线粒体疾病,和结构性病变,如chiari畸形和后窝肿瘤。虽然循环性呕吐综合征被认为是良性的,未经治疗的特发性颅内高压可以有长期的有害影响,例如视力丧失甚至失明。我们介绍了一个4岁儿童的特发性颅内高压,其症状类似于周期性呕吐综合征,最初症状发作后10个月诊断。我们的目的是证明需要高水平的临床怀疑,并且需要进一步研究该脆弱人群的潜在病理生理学。
BACKGROUND: Idiopathic intracranial hypertension is a disorder of increased intracranial pressure in the absence of cerebrospinal outflow obstruction, mass lesion, or other underlying cause. It is a rare phenomenon in prepubertal children and is most typically found in women of childbearing age. The classic presentation consists of headaches, nausea, vomiting, and visual changes; however, children present more atypically. We report a
case of idiopathic intracranial hypertension in an otherwise healthy, 4-year-old child with atypical symptoms resembling those of cyclic vomiting syndrome.
METHODS: A 4-year-old Caucasian, otherwise healthy, male child presented to our emergency department with episodic intermittent early-morning vomiting occurring once every 1-3 weeks without interepisodic symptoms, starting 10 months prior. With outpatient metabolic, autoimmune, endocrine, allergy, and gastroenterology work-up all unremarkable, he was initially diagnosed with cyclic vomiting syndrome. Discovery of mild optic nerve sheath distension on magnetic resonance imaging of the brain 10 months after symptom onset led to inpatient admission and a lumbar puncture notable for an opening pressure of 47 mmHg, with normal cell count and protein levels. He had no changes in visual acuity or optic disc edema on dilated fundoscopic examination. The patient was started on acetazolamide, with resolution of episodic emesis at his last follow-up visit 12 weeks after discharge.
CONCLUSIONS: Idiopathic intracranial hypertension presents atypically in prepubescent children, with about one-fourth presenting asymptomatically, and only 13-52% presenting with \"classic\" symptoms. With a prevalence of only 0.6-0.7 per 100,000, much remains unknown regarding the underlying pathophysiology in this demographic. Cyclic vomiting syndrome, however, has a much higher prevalence in this age group, with a prevalence of 0.4-1.9 per 100. It is thought to be an idiopathic, periodic disorder of childhood, often linked to neurological conditions such as abdominal migraines, epilepsy, mitochondrial disorders, and structural lesions such as chiari malformation and posterior fossa tumors. While cyclic vomiting syndrome is thought to have a benign course, untreated idiopathic intracranial hypertension can have long-term detrimental effects, such as visual loss or even blindness. We present a
case of idiopathic intracranial hypertension presenting with symptoms resembling cyclic vomiting syndrome in a 4-year-old child, diagnosed 10 months after initial onset of symptoms. We aim to demonstrate the need for a high level of clinical suspicion and the need for further investigation into underlying pathophysiology in this vulnerable population.