Annals of the Child Neurology Society最新文献

This 21-month-old boy with a history of multiple febrile seizures presented in refractory febrile status epilepticus. He had rhinorrhea and cough and tested positive for influenza type A. Cerebrospinal fluid analysis showed an elevated protein of 49 mg/dL (reference 10–32 mg/dL) with normal cells, glucose, lactate, meningitis/encephalitis, and autoimmune encephalitis panels. Magnetic resonance imaging revealed T2 hyperintensity, diffusion restriction, and susceptibility signal loss involving the bilateral cerebral cortices, cerebral white matter, thalami, basal ganglia, cerebellum, and brainstem (Figure 1). Metabolic screening and rapid whole-genome sequencing including RANBP2 were unrevealing.

He was diagnosed with acute necrotizing encephalopathy (ANE) due to influenza A. He was treated with intravenous immunoglobulin (IVIG) and high-dose methylprednisolone. His course was complicated by severe paroxysmal sympathetic hyperactivity and prolonged hypoxic respiratory failure. Two months after the initial presentation, he had cortical blindness, diffuse spasticity, and dystonia without purposeful movements.

ANE is a rare but severe parainfectious disorder predominantly occuring in the pediatric age group and is associated with significant neurological morbidity and mortality.^{1, 2} First described in 1997,³ ANE typically presents with seizure and encephalopathy concomitant with viral illness. Influenza type A is the most commonly identified pathogen,¹ but many others have been implicated. More recently, familial/genetic ANE has been reported in association with pathogenic variants in RANBP2, and genetic testing is now recommended in the evaluation of these patients.^{1, 2} Radiographically, ANE is characterized by symmetric T2 hyperintensity, diffusion restriction, and susceptibility signal loss in bilateral cerebral cortices, thalami, basal ganglia, cerebral white matter, brainstem, and cerebellar hemispheres.^{4, 5} A characteristic trilaminar pattern of diffusion restriction on the apparent diffusion coefficient map in the thalami is specific for ANE,^{4, 5} with the core demonstrating high signal intensity, pericore showing low signal intensity, and peripheral zone of high signal intensity, corresponding with pathologic findings of hemorrhagic necrosis in the core, pericore cytotoxic edema, and perilesional vasogenic edema.⁵ The prognosis is poor, with less than 10% full recovery, nearly 30% mortality, and significant neurological morbidity in survivors.^{1, 2} Early treatment with high-dose steroids is associated with improved outcomes.

Shermila Pia: Conceptualization; writing—original draft; writing—review & editing. Elizabeth Stackhouse: Writing—review & editing. Shehanaz Ellika: Data curation; supervisi

As survival among preterm infants has increased over time, the number of children at risk of complications of prematurity has increased as well. Retinopathy of prematurity (ROP) is a disease of abnormal retinal blood vessel development and is one of the leading causes of preventable blindness in preterm babies.^{1, 2}

We present a former 24-week premature infant who received left laser retinal photocoagulation at 2 months of age for ROP. At 9 years of age, he began experiencing new intermittent headaches behind the left eye that were described as achy and dull. The headaches were associated with light sensitivity, nausea, and vomiting, and they worsened when he moved his head forward. He denied vision changes, waking up from sleep due to headaches, numbness, tingling, or weakness. He had no prior headache history or family history of chronic headaches. His exam was notable for the oblong appearance of the left pupil, but his neurological exam was otherwise nonfocal. His symptoms and exam were thought to be most consistent with migraine headaches.

Due to the positional component of his headaches, further evaluation was pursued, including imaging and consultation with ophthalmology. Brain magnetic resonance imaging revealed no structural explanation for his headaches. Eye exams during this period revealed normal intraocular pressure (IOP) bilaterally and no optic disc edema. There were notable iris abnormalities and iridocorneal adhesions in his left eye consistent with prior history of retinal laser treatment. A lumbar puncture was not pursued due to no other signs or symptoms of increased intracranial pressure aside from the positional features.

Over the next month, several migraine treatments were trialed with inconsistent symptom relief, including acetaminophen in combination with prochlorperazine, diphenhydramine, valproate, and propranolol. Nonsteroidal anti-inflammatory drugs were avoided due to his history of chronic kidney disease. Approximately one month later, his headaches rapidly worsened to throbbing in the left frontal and temporal region. His neurological examination remained stable. However, his left eye pressure was elevated at 34 mmHg (normal ≤ 21 mmHg) during ophthalmologic evaluation. He developed further worsening headaches, blurred vision, nausea, and vomiting one week later. IOP of his left eye had increased to 46 mmHg and did not respond to pharmacologic IOP-lowering therapies. The patient was admitted for urgent Ahmed glaucoma drainage device implantation (New World Medical) in the left eye and experienced immediate headache relief after surgery.

Angle-closure glaucoma can present as early as two weeks after treatment of ROP. However, presentations have been reported anywhere from 12 to 45 years of age.^{3, 4} Angle-closure glaucoma symptoms can first present with intermittent headaches due to periodic elevation of IOP followed by spontaneous normalizatio

Systemic lupus erythematosus (SLE) is a heterogeneously presenting, chronic, multisystem autoimmune disease. Neurological manifestations of SLE can affect both central and peripheral nervous systems and are associated with reduced health-related quality of life and increased mortality.^1-3 While most neurological manifestations occur around the time of SLE diagnosis, they may precede diagnosis, creating diagnostic and therapeutic challenges. Mononeuritis multiplex (MNM) is a rare SLE manifestation, usually occuring years after diagnosis.⁴ We present an 11-year-old girl who presented with severe, rapidly progressive MNM due to SLE. This is the first report of MNM as the initial SLE manifestation in a pediatric patient, and only the second report of MNM at time of SLE diagnosis.⁵

This previously healthy 11-year-old girl presented with progressively worsening distal right leg pain, antalgic gait, and intermittent fever, preceded by recent influenza A infection. Her evaluation was significant for normocytic anemia, elevated inflammatory markers, and magnetic resonance imaging (MRI) suggestive of an inflammatory myopathy (Figure 1). The differential diagnosis included postinfectious reactive myositis versus new-onset chronic immune-mediated inflammatory disease. She was discharged on a prednisone taper with further evaluation pending.

Over the next month, her examination became progressively more abnormal, with increasingly severe distal upper and lower extremity weakness, pain, paresthesias, muscle atrophy, and gait instability. She developed bilateral claw hand deformity and foot drop, absent toe flexion and extension, and absent Achilles reflexes. Brain MRI demonstrated abnormal small T2 hyperintensity in the right lateral pons. Spine MRI and lumbar puncture were normal. Figure 1 shows bilateral lower extremity MRI, with abnormalities interpreted as myositis versus neurogenic atrophy.

Nerve conduction and electromyography demonstrated severe axonal sensory and motor neuropathy with asymmetric involvement, consistent with mononeuritis multiplex. The presence of this neuropathy and patchy myopathic changes supported clinical diagnosis of vasculitic neuropathy. Muscle biopsy of left vastus lateralis demonstrated neurogenic atrophy without perivascular or endomysial inflammation (Figure 2). However, as the biopsy was completed after an initial steroid course, potential inflammatory muscular findings may have been masked.

With a likely diagnosis of rapidly progressive MNM from vasculitic neuropathy, extensive multidisciplinary diagnostic evaluation for potential etiologies continued. Prior rheumatologic evaluation had been pertinent for positive antinuclear antibody, and despite any specific clinical manifestations for SLE outside of neurological disease, a full evaluation revealed high-titer positive SS-A antibody (>8.0 ai), positive dsDNA antibody, RNP