Leber’s Hereditary Optic Neuropathy Plus Causing Recurrent Myelopathy due to an MT-DN1 Mutation at G3635A

A 51-year-old man with known Leber’s hereditary optic neuropathy (LHON) presented with worsening lower extremity weakness and numbness. Following an episode of myelopathy two years before, he had been ambulating with a walker but over two weeks became wheelchair bound. He also developed a sensory level below the T4 dermatome to light touch, pinprick, and vibration. MRI of his cervical and thoracic spine showed a nonenhancing T2 hyperintense lesion extending from C2 to T12. At his presentation two years earlier, he was found to have a longitudinally extensive myelopathy attributed to his LHON. Genetic testing revealed a 3635 guanine to adenine mutation. MRI at that presentation demonstrated a C1-T10 lesion involving the central and posterior cord but, unlike the new lesion, did not involve the ventral and lateral horns. Given the similarity to his prior presentation and a negative evaluation for alternative etiologies, he was thought to have recurrent myelopathy secondary to Leber’s Plus. To our knowledge, recurrent myelopathy due specifically to the G3635A mutation in Leber’s Plus has not been reported previously.

Tumoral Calcinosis of the Cervical Spine Associated with a Pathologic Odontoid Fracture

Tumoral calcinosis involves focal calcium deposits in the soft tissues surrounding a joint and most commonly occurs in the hips and elbows, rarely in the cervical spine. Furthermore, it has not been known to be associated with pathologic fractures. To the best of our knowledge, our case report highlights the first case of a pathologic type II odontoid fracture associated with adjacent tumoral calcinosis, resulting in pain, dysphagia, and severe spinal stenosis. The patient underwent a posterior occipitocervical fusion and C1 laminectomy, along with planned tracheostomy and gastrostomy to avoid expected difficulty with postoperative extubation and dysphagia. Additionally, we present a review of existing literature on tumoral calcinosis in the upper cervical spine.

A Case of Carbamazepine-Induced Aggravation of Self-Limited Epilepsy with Centrotemporal Spikes Epilepsy and Valproate-Induced Hyperammonemic Encephalopathy in a Child with Heterozygous Gene Variant of Carbomoyl Phosphatase Synthetase Deficiency

Antiepileptics drugs are the mainstay of the management of epilepsy in children. Sodium valproate (VPA) and carbamazepine (CBZ) are widely used medications in childhood epilepsy. Hyperammonemia has been described as a known side effect of valproate therapy. It is known that VPA-associated HA is common among patients who hold genetic mutations of the carbomoyl phosphatase synthase 1 gene (CPS1). Aggravation of self-limited epilepsy with centrotemporal spikes (SLECTS) is a rare side effect of CBZ. Here, we present a child who had CBZ-induced aggravation of rolandic epilepsy and VPA-induced HA encephalopathy in the background of an unrecognised heterozygous gene variant of CPS1. An 8-year-old boy with SLECTS presented with a history of abnormal behaviours and drowsiness. He was apparently well until six years when he developed seizures in favour of rolandic epilepsy. His electroencephalogram (EEG) showed bilateral predominantly on the right-sided central-temporal spikes and waves. The diagnosis of SLECTS was made, and he was commenced on CBZ. Though he showed some improvement at the beginning, his seizure frequency increased when the dose of CBZ was increased. His repeat EEG showed electrical status in slow-wave sleep, and CBZ was stopped. Subsequently, he was started on VPA, and with that, he developed features of encephalopathy. He had elevated serum ammonia with normal liver functions. VPA was stopped with the suspicion of VPA-induced hyperammonemia. Tandem mass spectrometry did not show significant abnormality in the amino acid profile. Specific genetic analysis revealed a c.2756 C > T.p (Ser919Leu) heterozygote genetic mutation of the CSP 1 gene. This is a classic example where side effects of treatment determine the choice of antiepileptics drugs (AEDs) in childhood epilepsy. It is essential to keep in mind that SLECTS can be aggravated with certain AEDs, and VPA-induced HA in the absence of live failure could be due to underlying inherited metabolic disorders.

Muscle-Specific Tyrosine Kinase-Associated Myasthenia Gravis: A Neuromuscular Surprise

Myasthenia gravis is a neuromuscular autoimmune disease that results in skeletal muscle weakness that worsens after periods of activity and improves after rest. Myasthenia gravis means “grave (serious), muscle weakness.” Although not completely curable, it can be managed well with a relatively high quality of life and expectancy. In myasthenia gravis, antibodies against the acetylcholine receptors at the neuromuscular junction interfere with regular muscular contraction. Although most commonly caused by antibodies to the acetylcholine receptor, antibodies against MuSK (muscle-specific kinase) protein can also weaken transmission at the neuromuscular junction. Muscle-specific tyrosine kinase myasthenia gravis (MuSK-Ab MG) is a rare subtype of myasthenia gravis with distinct pathogenesis and unique clinical features. Diagnosis can be challenging due to its atypical presentation as compared to seropositive myasthenia gravis. It responds inconsistently to steroids, but plasma exchange and immunosuppressive therapies have shown promising results. We report a case of a 49-year-old female who presented with acute hypoxic respiratory failure. Our patient experienced progressive, undiagnosed MuSK-Ab MG for years without a diagnosis.

Spontaneous Recovery of Penetrating Cervical Spinal Cord Injury with Physiotherapeutic Treatment: Case Report and Review of the Literature

Stab wounds to the cervical spine are less common than injuries from road accidents, sports injuries, and falls. The presence of vital, vascular, neural, respiratory, and digestive structures in the neck region mean that this kind of spinal injury is generally critical, and its management is a challenge. We report a unique case of a previously healthy 17-year-old adolescent admitted for quadriplegia secondary to a stab wound to the cervical spine at the C4C5 level. There was no surgical indication. The patient underwent physiotherapy. He showed spontaneous neurological improvement two weeks later and was able to sit on his own and to walk about three months of physical rehabilitation.

Vasculitic Tibial Mononeuropathy Associated with Inherited Immune Dysregulation: A Review of Tibial Mononeuropathies with Electrodiagnostic Considerations

Compressive tibial mononeuropathies are uncommon and can be caused by conditions including posterior compartment syndrome, soleal sling syndrome, and tarsal tunnel syndrome. Therefore, it is critical to consider noncompressive etiologies when a tibial mononeuropathy is suspected. This is a patient with a history of rare inherited immune dysregulation that presented to the electrodiagnostic laboratory with severe neuropathic pain in the right foot associated with plantarflexion weakness, concerning for a tibial mononeuropathy. However, the patient’s clinical presentation and results on electrodiagnostic testing were not consistent with any of the above entities. Therefore, noncompressive etiologies of tibial mononeuropathies such as vasculitis had to be considered. The patient subsequently underwent sural nerve biopsy which confirmed small-vessel vasculitis as the cause of the tibial mononeuropathy. She was then started on appropriate immunosuppressive treatment which resulted in significant pain relief and was discharged home. This case highlights the importance of considering noncompressive causes of tibial nerve injury. Compressive and vasculitic tibial mononeuropathies along with their electrodiagnostic considerations are reviewed. Furthermore, this case highlights the critical role of the electromyographer and ability to maximize the impact on patient care through a solid foundation in anatomy, pathophysiology, and electrodiagnosis blended with clinical acumen.

Multiple Cranial Nerve Palsies in a Pediatric Case of Lemierre’s Syndrome due to Streptococcus viridans

Background. Lemierre’s syndrome is a rare condition of internal jugular vein thrombosis following oropharyngeal infection. While it usually results from Fusobacterium necrophorum infection, atypical cases associated with other pathogens have been reported. Objective. To describe a unique case of pediatric Lemierre’s syndrome with Streptococcus viridans infection resulting in cavernous sinus thrombosis and oculomotor, trochlear, and abducens nerve palsies. Case Report. A 14-year-old female initially presented after six days of fever, myalgias, and sore throat and was admitted for hyperbilirubinemia and acute kidney injury. She developed a fixed, dilated pupil with complete ophthalmoplegia, ptosis, and severe pain. Imaging revealed retromandibular space abscess, external and internal jugular vein thrombosis, cavernous sinus thrombosis, internal carotid artery stenosis, pulmonary embolism, and bilateral pneumonia. She was diagnosed with Lemierre’s syndrome with cultures positive for Streptococcus viridans and treated with a combination of antibiotics and anticoagulation. Conclusion and Relevance. Both antibiotics and anticoagulation were effective management for this Lemierre’s syndrome patient with cavernous sinus thrombosis. Early diagnosis and treatment of Lemierre’s syndrome is essential. A multidisciplinary treatment team is beneficial for managing the sequelae of this condition.

Paradoxical and Retrograde Air Embolism from Pressurized Peripheral Bolus

Introduction. Cerebral air embolism is a rare, yet serious neurological occurrence with unclear incidence and prevalence. Here, we present a case of fatal cerebral arterial and venous cerebral gas embolism in a patient with infective endocarditis and known large right-to-left shunt and severe tricuspid regurgitation following pressurized fluid bolus administration. Case Presentation. A 32-year-old female was admitted to the medical intensive care unit from a long-term acute care facility with acute on chronic respiratory failure. Her medical history was significant for intravenous heroin and cocaine abuse, methicillin-sensitive Staphylococcus aureus tricuspid valve infective endocarditis on vancomycin, patent foramen ovale, septic pulmonary embolism with cavitation, tracheostomy with chronic ventilator dependence, multifocal cerebral infarction, hepatitis C, nephrolithiasis, anxiety, and depression. After intravenous fluid administration, she became unresponsive with roving gaze, sluggish pupils, and hypotensive requiring vasopressors. CT of the brain showed diffuse arterial and venous cerebral air embolism secondary to accidental air administration from fluid bolus. Magnetic resonance imaging of the brain showed diffuse global anoxic injury and flattening of the globe at the optic nerve insertion. Given poor prognosis, her family chose comfort measures and she died. Conclusions. Fatal cerebral air embolism can occur through peripheral intravenous routes when the lines are inadequately primed and fluids administered with pressure. Caution must be exercised in patients with right-to-left shunting as air may gain access to systemic circulation.

Familial Multiple Sclerosis in a Mother and Son Pair: A Sri Lankan and a South Asian First

Multiple sclerosis (MS) is an immune-mediated demyelinating disorder involving the central nervous system (CNS). It is common amongst young females. Although the exact cause of MS is yet unknown, viral infections such as EBV, environmental factors, and autoimmune and genetic mechanisms involving HLA-DRB1 loci are implicated. Familial MS is reported from some geographic locations and ethnic groups but is thought to be rare in Asia. In this paper, we present both a Sri Lankan mother and her son, with clinically definite MS conforming to McDonald’s 2017 clinical and MAGNIMS 2016 radiological criteria. Both had oligoclonal bands in their CSF (OCB-IEF) with no serum bands indicating intrathecal production and were negative for AQP4 and MOG IgG serology. Familial MS is more common among siblings, with sister-sister relationship having the highest rate. The lowest relation was amongst father-son and mother-son pairs. Amongst siblings, the risk of MS is between 3.5% and 4.7%. Inherited factors rather than common environmental exposure influence susceptibility in such cases. To the best of our knowledge, MS occurring in a mother-son pair has not been reported before either from Sri Lanka or South Asia.

“At-Home” Photobiomodulation: A New Approach for Bell’s Palsy Treatment

Objective. This report is the first one to describe the possibility to use “self‐administered” photobiomodulation (PBM) for Bell’s palsy (BP) treatment. Background. BP is a peripheral disorder of the facial nerve causing sudden paralysis of unilateral facial muscles, and PBM has been successfully suggested for its treatment without any side effect. This is the first case report where a laser device was successfully used at home by the patient herself to treat BP opening new perspectives on the therapy of this disease. Methods. This report describes the “at-home PBM” treatment performed on a 15-year-old girl who presented BP consisting of acute pain on the right side of her face, difficulty in biting and dripping saliva from the right side of her lips. The treatment was performed twice a day by cutaneous applications, each of 15 minutes (total fluence 48 J/cm2) in an area corresponding to the parotid gland by a device emitting at 808 nm at 250 mW output power. Results. Two weeks after PBM treatment, performed at home twice a day by the patient herself without any kind of pharmacological therapy, the complete disappearing of the disease was noticed with no side effects. Conclusion. With the limitations due to a single case report and with the need of further clinical trials to confirm it, “at-home PBM” seems to represent a good and safe approach to the treatment of BP.