Background: Moyamoya disease (MMD) is a rare, progressive cerebrovascular arteriopathy characterized by stenosis and occlusion of the distal internal carotid arteries with the development of compensatory collateral networks. In children, MMD is a major cause of ischemic stroke; however, neurological morbidity frequently extends beyond cerebrovascular events to include epilepsy, headache, cognitive impairment, and psychiatric manifestations. Data regarding the long-term evolution of these complications in Caucasian pediatric patients remains limited. Case Report: We present the longitudinal case of a Caucasian female diagnosed with advanced MMD after an ischemic stroke at the age of 7 years, followed by indirect surgical revascularization (encephalo-duro-arterio-synangiosis) and chronic antiplatelet therapy. Four years later, she developed recurrent focal aware sensory–motor seizures associated with chronic post-ischemic cortical injury. Despite stable vascular imaging and absence of recurrent infarction, the patient experienced persistent neurological sequelae, including residual spastic hemiparesis, episodic tension-type headaches, and evolving neuropsychological complications. Cognitive assessment initially suggested mild neurocognitive impairment, with subsequent improvement during adolescence. In late follow-up, prominent anxiety symptoms emerged, and psychiatric evaluation confirmed panic disorder requiring psychological and pharmacological support. The patient remained neurologically stable into adulthood under continued multidisciplinary care. This case illustrates the broad spectrum of neurological and psychiatric complications that may accompany pediatric MMD, even in the absence of new ischemic events. The accompanying literature review emphasizes that epilepsy, headache, cognitive dysfunction, and psychiatric disorders represent clinically significant components of the long-term disease burden in children with MMD. Conclusions: Pediatric moyamoya disease should be regarded not only as a cause of childhood stroke, but also as a chronic condition with long-term epileptic, cognitive, and psychiatric sequelae that may evolve independently of recurrent ischemic injury. By providing longitudinal follow-up from childhood into adulthood in a Caucasian patient, this report underscores the importance of integrating neuropsychological and psychiatric surveillance into standard care pathways, alongside vascular and surgical management, to better address the full spectrum of morbidity and improve quality of life.

Background/Objectives: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by pathogenic variants in the NF1 gene, characterized by high phenotypic variability. Methods: We present clinical and molecular data from a Romanian cohort of 54 patients initially diagnosed clinically. Results: Phenotypic evaluation (n = 54) revealed a high prevalence of café-au-lait macules (100%), Lisch nodules (64.8%), axillary/inguinal freckling (61.1%), and cutaneous neurofibromas (42.6%). Due to financial constraints (genetic testing not covered by the national health system), molecular confirmation by next-generation sequencing (NGS) was possible in only 12 patients (mostly sporadic cases and young children). Genetic testing identified a diverse spectrum of variants, including frameshift (41.7%, n = 5), nonsense (33.3%, n = 4), missense (16.7%, n = 2), and one splicing deletion (8.3%, n = 1). A novel complex NF1 frameshift variant, c.7504_7508delinsC (p.Ser2502Argfs*24) in exon 54, was identified in a patient exhibiting an aggressive phenotype characterized by plexiform neurofibromas, a malignant peripheral nerve sheath tumor (MPNST), and severe skeletal abnormalities. Additionally, a recurrent nonsense variant, NF1 c.910C>T (p.Arg304*), was detected in two unrelated individuals. Conclusions: The high proportion of sporadic cases (58.3%) in the molecularly tested subgroup underscores the critical role of early genetic screening. By integrating clinical data from 54 patients with the first molecular characterization of NF1 in Romania, this study expands the mutational spectrum and provides preliminary, descriptive insights into genotype–phenotype correlations. It also proposes a cost-effective diagnostic algorithm adapted for resource limited settings and lays the groundwork for future multicenter initiatives. Given the exploratory nature of the molecular subgroup (n = 12), all genotype–phenotype observations require validation in larger independent cohorts.