Annals of Indian Academy of Neurology最新文献

Background: Hirayama disease (HD) is a rare benign type of cervical cord myelopathy occurring commonly in young males as unilateral or bilateral asymmetrical amyotrophy of the hand and forearm muscles in C8-T1 distribution. Magnetic resonance imaging (MRI) is the best technique for the evaluation and imaging of this entity.

Materials and methods: This is a retrospective review of cervical magnetic resonance images of patients that were taken for clinically suspected and diagnosed HD on 3T MRI in postcontrast neutral and flexion (30°-40°) positions from July 2019 to January 2024 at Shri Ram Murti Smarak Institute of Medical Sciences, Bareilly.

Results: Fourteen patients included in the study were males less than 34 years of age. MRI findings of cord atrophy in the lower cervical region/cervico-dorsal junction, abnormal cervical curvature, loss of attachment of the dorsal dural sac and subjacent laminae with anterior displacement, and a prominent intense enhancing posterior epidural space were observed in all 14 patients. The minimum anteroposterior cord diameters in the neutral and flexion positions were 2.9 and 2.8 mm, respectively (mean thickness of laminodural space on flexion - 5.2 mm). Other MRI findings showed variable representations.

Conclusions: Flexion-position MRI has emerged as the gold standard for establishing and validating the diagnosis of HD in clinically suspected cases and should be an essential part of the protocol for the screening of clinically suspected cases of HD to aid in early treatment and therapeutic intervention. Complimentary newer sequences such as the Three-dimensional (3D)-Constructive interference in Steady State (CISS)/Fast Imaging Employing Steady-state Acquisition Cycled Phases (FIESTA-C) may reinforce better appreciation of epidural flow voids.

Stiff-person syndrome (SPS) is a rare and complex neurologic disorder characterized by progressive muscle stiffness, painful spasms, and gait difficulties. In this report, we describe a case of SPS who presented with a relapse while on maintenance immunosuppressive treatment. In addition, we review the literature of 16 previously reported cases of SPS from India, highlighting the diverse clinical features, comorbidities, treatment response, and relapse. The occurrence of paraneoplastic SPS emphasizes the need for early recognition and diagnosis.

Carotid stump is blind remnant of occluded proximal segment of the internal carotid artery (ICA) that can become the potential source of embolism. Carotid stump syndrome is a potentially treatable cause of recurrent ischemic events in the carotid territory in the setting of occlusion of the ipsilateral ICA. It is thought to be caused by turbulent blood flow in the patent stump of the occluded ICA causing microemboli migrating in the brain through external carotid-ophthalmic anastomotic channels and retrograde flow. Here, we report a patient with known ipsilateral chronic ICA occlusion, who was on best medical management, presented on two separate occasions with recurrent embolic infarctions in ipsilateral carotid territory. She was diagnosed with carotid stump syndrome and treated through endovascular route with clinical and angiographic follow-up.

A 14-year-old girl with congenital hydrocephalus and early-onset scoliosis presented with sudden onset of severe headache on the fourth postoperative day of scoliosis correction (definitive fusion). On evaluation, she was found to have cerebellar haemorrhage on computed tomography scan with the findings of obstructive hydrocephalus. Posterior fossa bleed with hydrocephalus contributing to raised ICP was suspected initially. Headache persisted despite treating the patient with analgesics and antioedema measures. There was no history of postural variation of headache. As the drain output was not coming down, even by the sixth postoperative day, low cerebrospinal fluid pressure headache was considered and the drain was removed, which resulted in marked improvement of headache. Subsequent wound exploration revealed grade III dural tear at D10 level, which was repaired and the headache subsided completely. The linear pattern of haemorrhage in the cerebellum is classical of remote cerebellar haemorrhage, which is seen rarely following spinal surgeries with associated dural tear.

Dravet syndrome (DS) is a developmental epileptic encephalopathy, characterized by fever-triggered focal or hemiclonic seizures at onset with various associated comorbidities like intellectual disability, gait abnormalities, and behavioral issues. It typically advances to drug-refractory epilepsy with multiple seizure semiology. In this review, we give a focused narrative on the treatment aspects of DS. We searched the PubMed database for articles on DS. More than 500 articles were reviewed, of which 55 relevant articles are included in this review. ClinicalTrials.gov database was also accessed for data on ongoing trials. Majority are caused by mutations in the SCN1A gene. Valproate and clobazam are the most commonly used traditional antiseizure medications. Stiripentol, fenfluramine, and cannabidiol are recently approved drugs with promising results. Ketogenic diet and vagus nerve stimulation are commonly tried nonpharmacologic modalities that have shown significant responses. Antisense oligonucleotides and viral vector-mediated gene transfer therapies are on the horizon. This review outlines the current existing treatment rationale, evidence for newly approved drugs, and the future scope of gene therapy in DS.