Kalanj Jasna, Cobeljic Mina Goran, Jesic Maja, Zdravkovic Vera, Cvetkovic Mirjana, Vukasinovic Nadja, Andjelkovic Marina, Rsovac Snezana
Department of Pediatric and Neonatal Intensive Care, University Children's Hospital, Belgrade, 11000, Serbia.
Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.
BMC Pediatr. 2024 Dec 19;24(1):815. doi: 10.1186/s12887-024-05287-9.
Familial chylomicronemia syndrome (FCS) is a rare genetic disorder with heterogeneous presentation, where acute encephalopathy is rarely described in literature. Therefore, initial neurologic symptoms could make the diagnosis and treatment challenging.
A four-month-old male infant presented with acute encephalopathy, vomiting, bulging fontanel, decreased appetite and failure to thrive. He had extremely lipemic serum and anemia. Intracranial computed tomography (CT) revealed lipid collection which was suspected to be epidermoid cyst, and also lipid deposits with extra-axial and intravascular location. This was initially described as a ruptured intracranial epidermoid cyst with dissemination of lipid content, including intravascular dissemination. Together with clinical signs of raised intracranial pressure it was discussed whether the cyst should be surgically removed. Since the blood sample appearence was milky and the child was rather stable, surgery wasn't performed and the treatment with exchange transfusion (ET) was started immediately. Only after ET it was possible to obtain laboratory results including lipid status (triglycerides were 106.8 mmol/l). At that point we suspected that the underlining cause is a genetic disease. Three cycles of plasmapheresis followed ET, after which symptoms resolved almost completely, despite remaining lipid deposits on brain CT scan and brain ultrasound, with some signs of regression. After these repeated imaging studies, it was concluded that the 'cyst' was actually the largest brain lipid collection. The definitive genetic diagnosis confirmed FCS. A short course of insulin, antioxidants and fibrates was initially given, but discontinued after the diagnosis confirmation due to lack of supporting data in the literature. Effective and the only maintenance treatment was the diet consisting of formula low in fat and high in medium-chain triglycerides. On the discharge the infant's neurological status, except mild hypotonia, was normal, he was thriving well, had good appetite and no anemia.
This is a rare case of FCS presenting with neurological symptoms that mimicked the clinical picture of ruptured intracranial epidermoid cyst, which was initially the differential diagnosis of this case. Initial interpretation of imaging studies didn't delay treatment. With the right treatment, the symptoms of the disease could be reversible with satisfactory outcome.
家族性乳糜微粒血症综合征（FCS）是一种罕见的遗传性疾病，临床表现具有异质性，文献中很少描述其急性脑病症状。因此，最初的神经系统症状可能会给诊断和治疗带来挑战。
一名4个月大的男婴出现急性脑病、呕吐、囟门隆起、食欲减退和发育不良。他的血清严重脂血且伴有贫血。颅内计算机断层扫描（CT）显示脂质聚集，怀疑为表皮样囊肿，同时还有轴外和血管内的脂质沉积。最初将其描述为颅内表皮样囊肿破裂并伴有脂质成分播散，包括血管内播散。结合颅内压升高的临床体征，讨论了是否应手术切除囊肿。由于血样外观呈乳状且患儿情况相对稳定，未进行手术，而是立即开始进行换血治疗（ET）。仅在ET治疗后才获得包括血脂状态（甘油三酯为106.8 mmol/l）在内的实验室结果。此时我们怀疑潜在病因是一种遗传性疾病。ET治疗后进行了三个周期的血浆置换，之后症状几乎完全缓解，尽管脑部CT扫描和脑部超声仍有脂质沉积，但有一些消退迹象。经过这些反复的影像学检查，得出结论，“囊肿”实际上是最大的脑部脂质聚集。最终的基因诊断证实为FCS。最初给予了短期的胰岛素、抗氧化剂和贝特类药物治疗，但在确诊后因文献中缺乏支持数据而停用。有效的唯一维持治疗是低脂、高链中甘油三酯配方奶饮食。出院时，婴儿的神经状态除轻度肌张力减退外正常，发育良好，食欲良好且无贫血。
这是一例罕见的FCS病例，以神经系统症状为表现，酷似颅内表皮样囊肿破裂的临床症状，这也是该病例最初的鉴别诊断。影像学检查的初步解读并未延误治疗。通过正确的治疗，疾病症状可能可逆且预后良好。
