Ann Indian Acad Neurol, Official Journal of Indian Academy of Neurology

Objectives: Sepiapterin reductase deficiency (SRD) is a rare dopa-sensitive neurotransmitter disorder caused by autosomal recessive mutations in the sepiapterin reductase gene. The triad of paroxysmal stiffening, oculogyric crises, and hypotonia are highly suggestive in some patients. However, in other patients, the clinical picture may be nonspecific and remain under-recognized and misdiagnosed as cerebral palsy. Case presentation: We present a nine-month-old boy who initially presented with hypotonia and developmental delay, diagnosed as vitamin B12 deficiency. Upon he did not respond to vitamin replacement treatment, he was diagnosed with SRD by whole-exome sequencing (WES). The boy improved dramatically under treatment with L-dopa, 5-hydroxytryptophan and BH4. Conclusions: We aim to emphasize that SRD can present with nonspecific symptoms, leading to a diagnostic delay for this rare but treatable disease. Moreover, our case is the first to demonstrate the clinical benefit of BH4 add-on treatment. Early intervention is crucial for good outcome and neurodevelopment.

Introduction: Juvenile myasthenia gravis (JMG) is a rare autoimmune disorder with a variable clinical course and limited pediatric-specific treatment guidelines. Objective clinical scales, such as the Quantitative Myasthenia Gravis (QMG) Score and the Pediatric Myasthenia Gravis Quality of Life 15 (PM-QOL15), may support individualized management, but their role in routine practice remains underexplored. Methods: We retrospectively reviewed 10 seropositive JMG patients followed at a single tertiary neuromuscular clinic between 2014 and 2024. All patients underwent a systematic assessment with QMG at each visit, while PM-QOL15 was administered at the final visit. Clinical data, comorbidities, antibody status, treatment modalities, and outcomes were analyzed. Associations between treatment strategies, comorbidities, and scale scores were explored using appropriate statistical methods. Results: Seven patients (70%) underwent thymectomy, resulting in a reduction in mean QMG scores from 7.7 to 2.4, though residual relapses were observed. Chronic intravenous immunoglobulin (IVIG) therapy, administered to 70% of patients, did not significantly reduce relapse rates or steroid exposure and was associated with higher QMG scores in the second year, suggesting use in more severe phenotypes rather than therapeutic efficacy. Prolonged corticosteroid therapy did not improve remission time or relapse frequency and was complicated by major adverse effects in two patients. Timing of azathioprine initiation showed no significant correlation with relapse frequency. PM-QOL15 correlated strongly with mean QMG (r = 0.88, p < 0.001), reflecting cumulative disease burden. Patients with comorbidities required longer stabilization, although differences were not statistically significant. Conclusions: The routine integration of QMG and PM-QOL15 into follow-up may facilitate the earlier recognition of subclinical deterioration, provide objective measures of treatment response, and guide personalized management in JMG. Thymectomy showed benefit in selected patients, while the long-term roles of IVIG and corticosteroids remain uncertain. Larger multicenter prospective studies are warranted to confirm these findings and refine evidence-based strategies for pediatric JMG.

Introduction: This study presents long-term data of pediatric AIS patients with a favorable initial clinical presentation who were followed by a tertiary pediatric neurology clinic with a well-organized stroke team. Method: Patients who were diagnosed with AIS at pediatric age (28 days–18 years) and followed for at least 5 years by the same clinic were included in this study. The clinical and demographical characteristics of the patients were retrospectively collected from their medical records. At their last visit, the modified Rankin scale (mRS) and Pediatric Stroke Outcome Measure Short Neuro Exam (PSOM-SNE) were administered, and a neurological examination was performed. Results: A total of 32 patients (20 of whom were male, 62.5%) were included in this study. Their mean age at the time of the study was 162.62 ± 64.4 (62–300) months. The mean age at first ischemic stroke was 77.39 ± 61.93 (0.5–180) months, and the mean follow-up duration was 85.44 ± 20.52 (60–121) months. Seventeen patients (53.3%) reported normal daily functions at the last visit. A younger presentation age (≤60 months) was related to a longer hospital admission duration (24 h vs. 9 h) and worse long-term functional outcomes (p = 0.023). The affected vascular territory did not have any significant effect on long-term clinical outcomes (p = 0.550). Anticoagulant treatment alone was consistent with a worse prognosis compared to antithrombotic treatment alone or the combination of both (p = 0.026). PSOM-SNE scores were helpful in detecting some mild cognitive and language dysfunctions in patients with favorable mRS scores and subtle neurological sequelae. Conclusions: Pediatric AIS with a mild presentation has some degree of long-term morbidity, even when handled at well-organized stroke centers. A younger presentation age has the highest risk of long-term neurological sequelae.