International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2025
Moyamoya Syndrome, Epilepsy and Hydrocephalus in Neurofibromatosis Type 1.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Zhao Fen, Yue Xizan, Wang Guangyu, Zhang Hongwei
Аннотация
BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous syndrome. NF1-related vasculopathy represents a clinically significant yet underrecognized complication. Moyamoya syndrome, a rare cerebrovascular manifestation of NF1, has been rarely reported in the paediatric population. Epilepsy and hydrocephalus are also uncommon neurological manifestations of NF1. However, the co-occurrence of the above three symptoms in NF1 cases is rarely found.
METHODS: Here, we report a 2-year-old boy with moyamoya syndrome, epilepsy and hydrocephalus caused by de novo NF1 pathogenetic variants.
RESULTS: He experienced a 1-week history of paroxysmal hands weakness and frequent seizures. Physical examination showed macrocephaly (head circumference was 52 cm), reduced distal muscle strength in both upper limbs (grade III) and the presence of 6 or more café-au-lait macules (CALMs). Brain magnetic resonance imaging (MRI) showed moyamoya syndrome and hydrocephalus. Electroencephalographic (EEG) monitored two episodes of electrical persistent seizures and one focal motor seizure. Trio whole exome sequencing (Trio-WES) demonstrated a de novo and heterozygous NF1 missense mutation (c.5488C > G, p. Arg1830Gly). The final diagnoses were 'neurofibromatosis type 1, moyamoya syndrome, epilepsy, and hydrocephalus'. Following surgical intervention and treatment with levetiracetam, the patient achieved normal muscle strength and was seizure-free.
CONCLUSION: When articles about complications of NF1 are placed in a separate category, little is written about NF-1-related moyamoya syndrome, hydrocephalus and epilepsy simultaneously. This report describes a case of NF1 with moyamoya syndrome combined with hydrocephalus and epilepsy, which could enhance clinicians' understanding of the neurological manifestations of NF1 and provide reference value for clinical practice.
METHODS: Here, we report a 2-year-old boy with moyamoya syndrome, epilepsy and hydrocephalus caused by de novo NF1 pathogenetic variants.
RESULTS: He experienced a 1-week history of paroxysmal hands weakness and frequent seizures. Physical examination showed macrocephaly (head circumference was 52 cm), reduced distal muscle strength in both upper limbs (grade III) and the presence of 6 or more café-au-lait macules (CALMs). Brain magnetic resonance imaging (MRI) showed moyamoya syndrome and hydrocephalus. Electroencephalographic (EEG) monitored two episodes of electrical persistent seizures and one focal motor seizure. Trio whole exome sequencing (Trio-WES) demonstrated a de novo and heterozygous NF1 missense mutation (c.5488C > G, p. Arg1830Gly). The final diagnoses were 'neurofibromatosis type 1, moyamoya syndrome, epilepsy, and hydrocephalus'. Following surgical intervention and treatment with levetiracetam, the patient achieved normal muscle strength and was seizure-free.
CONCLUSION: When articles about complications of NF1 are placed in a separate category, little is written about NF-1-related moyamoya syndrome, hydrocephalus and epilepsy simultaneously. This report describes a case of NF1 with moyamoya syndrome combined with hydrocephalus and epilepsy, which could enhance clinicians' understanding of the neurological manifestations of NF1 and provide reference value for clinical practice.