Department of Neurology, Children's Memorial Hermann Hospital, 6410 Fannin St., Ste 1014, Houston, TX, 77030, USA.
University of Texas Health Science Center, Houston, TX, USA.
J Med Case Rep. 2021 Aug 31;15(1):440. doi: 10.1186/s13256-021-03068-x.
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.
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.
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.
特发性颅内高压是一种在没有脑脊液流出梗阻、肿块病变或其他潜在原因的情况下颅内压升高的疾病。它在青春期前儿童中是一种罕见现象，最常见于育龄妇女。典型表现为头痛、恶心、呕吐和视力改变；然而，儿童的表现更为不典型。我们报告了一例特发性颅内高压，患儿为健康的 4 岁男孩，症状不典型，类似于周期性呕吐综合征。
一名 4 岁的白人健康男孩，因间歇性清晨呕吐就诊于我院急诊科，每周发作 1-3 次，无间歇期症状，始于 10 个月前。门诊代谢、自身免疫、内分泌、过敏和胃肠病学检查均未见异常，最初诊断为周期性呕吐综合征。症状出现 10 个月后，头颅磁共振成像发现视神经鞘轻度扩张，随后入院并进行腰椎穿刺，结果显示颅内压为 47mmHg，细胞计数和蛋白水平正常。在散瞳眼底检查中，视力或视盘水肿无变化。患者开始服用乙酰唑胺，出院后 12 周最后一次随访时，间歇性呕吐缓解。
特发性颅内高压在青春期前儿童中表现不典型，约四分之一无症状，仅有 13-52%表现为“典型”症状。患病率仅为 0.6-0.7/10 万，对于这一人群的潜在病理生理学，人们知之甚少。然而，周期性呕吐综合征在该年龄组的患病率要高得多，为 0.4-1.9/100。它被认为是一种儿童期特发性、周期性疾病，常与偏头痛、癫痫、线粒体疾病等神经科疾病以及小脑畸形和后颅窝肿瘤等结构性病变有关。虽然周期性呕吐综合征被认为预后良好，但未经治疗的特发性颅内高压可能会产生长期的不良影响，如视力丧失甚至失明。我们报告了一例特发性颅内高压，患儿为 4 岁男孩，症状类似于周期性呕吐综合征，在症状最初出现 10 个月后被诊断。我们旨在表明，在这一脆弱人群中，需要高度的临床怀疑，并需要进一步调查潜在的病理生理学。
