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BACKGROUND: Sleep-disordered breathing, including hypoventilation and obstructive sleep apnea, is often observed in Prader-Willi syndrome (PWS). Particularly in adolescence, scoliosis causes a progressive restrictive pulmonary pattern, leading to hypoventilation, so timely corrective surgery is required. However, the effect is controversial. In addition, since mental retardation of PWS, patient effort-based respiratory tests may be less reliable. So far, no studies have accurately reported on the comparison of respiratory function before and after corrective surgery, and appropriate respiratory function measurement method in PWS. CASE SUMMARY: We present two cases of adolescent PWS with typical characteristics, including obesity, mental retardation, and scoliosis. Two boys, aged 12 and 13, diagnosed with PWS, both underwent scoliosis correction surgery. Before and immediately after surgery, arterial blood tests showed no abnormalities and no respiratory symptoms occurred. However, after 6-7 mo, both patients complained of daytime sleepiness, difficulty sleeping at night, dyspnea on exertion, and showed cyanosis. Hypercapnia and hypoxia were confirmed by polysomnography and transcutaneous CO2 monitoring during sleep and were diagnosed with obstructive sleep apnea and alveolar hypoventilation. It was corrected by nighttime noninvasive ventilation application and normal findings of arterial blood gas were maintained after 6-8 mo follow-up. CONCLUSION: Even after scoliosis surgery, "periodic" monitoring of respiratory failure with an "objective" test method is needed for timely respiratory support.
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BACKGROUND: Autonomic dysreflexia (AD) can be a life-threatening condition in patients with spinal cord injury. It is important to prevent bladder overdistension in these patients as it may trigger AD. Sensation-dependent bladder emptying (SDBE), as a method of bladder management, improves the quality of life and allows physiologic voiding. In this study, we report disruption of the SDBE habit after bladder overdistension leading to AD with chest pain. CASE SUMMARY: A 47-year-old male with a diagnosis of C4 American Spinal Cord Injury Association impairment scale A had been emptying his bladder using the clean intermittent catheterization method with an itchy sensation in the nose as a sensory indication for a full bladder for 23 years, and the usual urine volume was about 300-400 mL. At the time of this study, the patient had delayed catheterization for approximately five hours. He developed severe abdominal pain and headache and had to visit the emergency room for bladder overdistension (800 mL) and a high systolic blood pressure (205 mmHg). After control of AD, a hypersensitive bladder was observed despite using anticholinergic agents. The sensation indicating bladder fullness changed from nose itching to pain in the abdomen and precordial area. Moreover, the volume of the painful bladder filling sensation became highly variable and was noted when the bladder urine volume exceeded only 100 mL. The patient refused intermittent clean catheterization. Finally, a cystostomy was performed, which relieved the symptoms. CONCLUSION: Patients using physiologic feedback, such as SDBE, for bladder management are recommended to avoid bladder overdistension.
RESUMO
OBJECTIVE: Schizencephaly is a rare congenital malformation that causes motor impairment. To determine the treatment strategy, each domain of the motor functions should be appropriately evaluated. We correlated a color map of diffusion tensor imaging (DTI) and transcranial magnetic stimulation (TMS) with the hand function test (HFT) to identify the type of hand function that each test (DTI and TMS) reflects. Further, we attempted to demonstrate the motor neuron organization in schizencephaly. METHOD: This retrospective study was conducted on 12 patients with schizencephaly. TMS was conducted in the first dorsal interosseous (FDI), biceps (BB), and deltoid muscles of the upper extremity, and contralateral MEP (cMEP) and ipsilateral MEP (iMEP) were recorded. The HFT included the grip strength, box and block (B&B), and 9-hole peg test. The schizencephalic cleft was confirmed using magnetic resonance imaging, and the corticospinal tract (CST) was identified using the color map of DTI. The symmetry indices for the peduncle and CST at pons level were calculated as the ratios of the cross-sectional area of the less-affected side and that of the more-affected side. RESULT: In the more-affected hemisphere TMS, no iMEP was obtained. In the less-affected hemisphere TMS, the iMEP response was detected in 9 patients and cMEP in all patients, which was similar to the pattern observed in unilateral lesion. Paretic hand grip strength was strongly correlated with the presence of iMEP (p = 0.044). The symmetry index of the color map of DTI was significantly correlated with the B&B (p = 0.008, R 2 = 0.416), whereas the symmetry index of the peduncle was not correlated with all HFTs. CONCLUSION: In patients with schizencephaly, the iMEP response rate is correlated with the hand function related to strength, while the symmetricity of the CST by the color map of DTI is correlated with the hand function associated with dexterity. Additionally, we suggest the possible motor organization pattern of schizencephaly following interhemispheric competition.