INTRODUCTION/AIMS
Triple A syndrome is an autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. Neurological involvement is common, but its electrodiagnostic (EDX) patterns are varied. The resulting phenotype, often marked by spasticity, can lead to diagnostic confusion with other motor neuron disorders. We aimed to define the neurological and EDX spectrum in a pediatric cohort and clarify their diagnostic relevance.
METHODS
This was a cross-sectional study of 17 pediatric patients with genetically confirmed triple A syndrome. All patients underwent neurological examinations by a pediatric neurologist. EDX data, including nerve conduction studies (NCS) and concentric needle electromyography (EMG) from 14 patients, were systematically analyzed for motor and sensory involvement.
RESULTS
Neurological examinations revealed upper motor neuron (UMN) signs, including hyperreflexia, extensor plantar responses, lower limb hypertonia, and a spastic gait pattern, including toe walking and early heel rise. Some patients showed peripheral neuropathy signs, including pes cavus and distal muscle atrophy. EDX studies indicated a predominantly distal, axonal motor polyneuropathy with infrequent sensory involvement. Needle EMG demonstrated chronic neurogenic changes in distal muscles; however, active denervation, such as fibrillation potentials and fasciculation potentials, were observed in only one patient.
DISCUSSION
The presence of spastic paraparesis and hyperreflexia may clinically resemble hereditary spastic paraplegia, while distal motor involvement may raise consideration of motor neuron disorders. The predominance of chronic neurogenic changes and the relative infrequency of active denervation on needle EMG are key diagnostic features that help differentiate Triple A syndrome from classical motor neuron diseases.
Osman Kipoğlu, H. Manyas, Mehmet Burak Mutlu et al.· Muscle and Nerve· 0 citations
Developmental and/or epileptic encephalopathy with spike-wave activation during sleep (DE SWAS), including electrical status epilepticus during sleep (ESES/CSWS), is associated with seizures, neurocognitive regression, and characteristic electroencephalographic abnormalities. This study aimed to evaluate the clinical, electrophysiological, neurocognitive, and molecular response to corticosteroid therapy in children diagnosed with DE-SWAS, with a particular focus on serum glial fibrillary acidic protein (GFAP) as a potential biomarker of treatment response. Eleven children aged 6-12 years were retrospectively evaluated using clinical records, sleep electroencephalography with quantification of the spike-wave index (SWI), standardized neuropsychological test results, and serum GFAP measurements obtained before and after corticosteroid treatment. Neurocognitive assessment included the Wechsler Intelligence Scale for Children-Revised (WISC-R), Stroop Color and Word Test, Bender Visual-Motor Gestalt Test, and Turkish Receptive and Expressive Language Test (TIFALDI)High-dose intravenous methylprednisolone was administered monthly for six months. During follow-up, four patients became seizure-free, while the remaining seven demonstrated a reduction in seizure frequency and duration exceeding 50%. Complete normalization of electroencephalographic findings was observed in four patients, and a ≥ 50% reduction in SWI was observed in the remaining seven. Post-treatment neurocognitive evaluations demonstrated overall improvement, particularly in attention, executive functions, and receptive language domains. Mean serum GFAP levels decreased significantly following corticosteroid therapy (p = .017). These findings suggest that corticosteroid therapy is associated with favorable clinical, electrophysiological, and neurocognitive outcomes in children with DE-SWAS and that GFAP may represent a promising biomarker of disease activity and therapeutic response. Larger prospective studies are warranted to validate these results.
Celil Yılmaz, Sibğatullah Ali Orak, Muzaffer Polat et al.· Applied neuropsychology. Chi...· 0 citations
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