A 9-year-old female child presented with a history of falls, weight loss, diffuse leg pain, and progressive gait disorder, following 1 previous event described as a tonic–clonic seizure. She had increased thyroid volume, brisk symmetric reflexes, abnormal gait, and painful spasms of the paraspinal musculature. Thyroid function tests indicated biochemical hyperthyroidism, and thyrotropin receptor antibodies were positive. Her electromyography showed continuous activation of normal motor units of the paraspinal and proximal lower extremity muscles. The patient had a diagnosis of Graves’ disease with associated stiff-person syndrome, with elevated anti–glutamic acid decarboxylase antibody levels. After intravenous immunoglobulin therapy, her ambulation was substantially improved and the symptoms of stiff-person syndrome decreased dramatically.
Introduction: Syringomyelia or hydromyelia is a rare neurological disorder of cerebrospinal fluid circulation caused by a pathologically dilated central spinal canal, manifested as dissociated sensory loss, chronic pain and motor deficits. The pathogenesis is not completely understood, usually being a diagnostic challenge. The authors describe a case of syringomyelia in a ten-year-boy associated with depression, as a challenging condition, emphasizing diagnostic difficulties and the multidisciplinary approach. Clinical case: The patient was admitted to the emergency room with pain, gait abnormality, arthralgia and dysesthesia in limbs with subacute onset. Neurological examination revealed tetraparesis with hypoesthesia and hypopallesthesia in limbs, associated with emotional lability. Feelings of worthlessness and abandonment in psychiatric evaluation resulted in diagnosis of depression. For persistent pain assessment, a magnetic resonance imaging of the spinal cord showed dilatation of the central canal, compatible with hydromyelia. To establish if the sensitive symptoms were secondary to damage of spinothalamic pathway, a laser evoked potential was performed, demonstrating integrity of Aδ-fibers, excluding, therefore, impairment of the nociceptive pathways only in the segments analyzed. In view of the findings, the patient was discharged from the hospital, still with some gait impairment, taking selective serotonin reuptake inhibitors for depression and carbamazepine for chronic pain with progressive improvement. Conclusion: This report explores the complexity of diagnosis of hydromyelia in children, which are difficult to examine accurately, particularly on sensitive examination, whose objective alteration in this case made us consider this rare disease. We believe that rigorous clinical follow-up, with multidisciplinary intervention, is extremely important to achieve the best response to treatment.
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