Central hypoventilation syndrome is a rare and fatal condition resulting from various central nervous system disorders that is characterized by a failure of automatic breathing. We report a case of central hypoventilation syndrome following posterior circulation stroke whose pulmonary function was improved by respiratory rehabilitation. A 59-year-old woman with a history of hemorrhagic stroke of the bilateral cerebellum was hospitalized due to pneumonia. A portable ventilator was applied via tracheostomy, recurrent episodes of apnea and hypercapnia impeded weaning. A respiratory rehabilitation program including chest wall range of motion exercise, air stacking exercise, neuromuscular electrical stimulation (NMES) on abdominal muscles, upper extremity ergometer, locomotor training, high-frequency chest wall oscillator, mechanical insufflation, and exsufflation was employed, as spirometry showed a severe restrictive pattern. A spontaneous breathing trial was started, and a portable ventilator was applied for 8 hours, only during nighttime, to prevent sudden apneic event. After 4 weeks of treatment, follow-up spirometry showed much improved respiratory parameters. This case suggests that respiratory rehabilitation can improve pulmonary function parameters and quality of life in central hypoventilation syndrome.
Abdominal Muscles ; Apnea ; Central Nervous System Diseases ; Cerebellum ; Electric Stimulation ; Female ; Follow-Up Studies ; Humans ; Hypercapnia ; Hypoventilation ; Insufflation ; Middle Aged ; Pneumonia ; Quality of Life ; Range of Motion, Articular ; Rehabilitation ; Respiration ; Respiratory Center ; Spirometry ; Stroke ; Thoracic Wall ; Tracheostomy ; Upper Extremity ; Ventilators, Mechanical ; Weaning

We report a female proband carrying a de novo 5q34-q35.2 deletion breakpoint, and review the unique skeletal phenotype and possible genotype related to this mutation. The patient presented with a persistent head tilt and limited head rotation. Non-contrast-enhanced three-dimensional computed tomography of the cervical spine revealed several malformations including a bone cleft in the right pars interarticularis, a bone defect in both C5 lamina and the transverse foramen at C2–C3, agenesis of the right articular process of C5, bony fusion of C4–C5, and subluxation of the craniocervical joints. Several deformities of the cervical spine seen in this patient have not been associated with the 5q deletion. A review of 5q-related mutations suggests that abnormalities associated with MSX2 gene might cause cervical spine abnormalities.
Chromosome Deletion ; Congenital Abnormalities ; Female ; Genotype ; Head ; Humans ; Joints ; Phenotype ; Spine*

OBJECTIVE: To investigate the effects of specific brain lesions on prognosis and recovery of post-stroke aphasia, and to assess the characteristic pattern of recovery. METHODS: Total of 15 subjects with first-ever, left hemisphere stroke, who were right handed, and who completed language assessment using the Korean version of the Western Aphasia Battery (K-WAB) at least twice during the subacute and chronic stages of stroke, were included. The brain lesions of the participants were evaluated using MRI-cron, SPM8, and Talairach Daemon software. RESULTS: Subtraction of the lesion overlap map of the participants who showed more than 30% improvement in the aphasia quotient (AQ) by the time of their chronic stage (n=9) from the lesion overlap map of those who did not show more than 30% improvement in the AQ (n=6) revealed a strong relationship with Broca's area, inferior prefrontal gyrus, premotor cortex, and a less strong relationship with Wernicke's area and superior and middle temporal gyri. The culprit lesion related to poor prognosis, after grouping the subjects according to their AQ score in the chronic stage (a cut score of 50), revealed a strong relationship with Broca's area, superior temporal gyrus, and a less strong relationship with Wernicke's area, prefrontal cortex, and inferior frontal gyrus. CONCLUSION: Brain lesions in the Broca's area, inferior prefrontal gyrus, and premotor cortex may be related to slow recovery of aphasia in patients with left hemisphere stroke. Furthermore, involvement of Broca's area and superior temporal gyrus may be associated with poor prognosis of post-stroke aphasia.
Aphasia* ; Brain ; Broca Area ; Hand ; Humans ; Motor Cortex ; Prefrontal Cortex ; Prognosis* ; Stroke* ; Temporal Lobe ; Wernicke Area

Neuropathic pain is usually managed pharmacologically, rather than with botulinum toxin type A (BTX-A). However, medications commonly fail to relieve pain effectively or have intolerable side effects. We present the case of a 62-year-old man diagnosed with an intracranial chondrosarcoma, which was removed surgically and treated with radiation therapy. He suffered from neuropathic pain despite combined pharmacological therapy with gabapentin, amitriptyline, tramadol, diazepam, and duloxetine because of adverse effects. BTX-A (100 units) was injected subcutaneously in the most painful area in the posterior left thigh. Immediately after the injection, his pain decreased significantly from 6/10 to 2/10 on a visual analogue scale. Pain relief lasted for 12 weeks. This case report describes intractable neuropathic pain caused by a brain tumor that was treated with subcutaneous BTX-A, which is a useful addition for the management of neuropathic pain related to a brain tumor.
Amitriptyline ; Botulinum Toxins* ; Botulinum Toxins, Type A* ; Brain Neoplasms* ; Brain* ; Chondrosarcoma ; Diazepam ; Duloxetine Hydrochloride ; Humans ; Middle Aged ; Neuralgia* ; Thigh ; Tramadol

OBJECTIVE: To investigate the effect of physical therapy (PT) intervention on spasticity in patients with cerebral palsy (CP), and to assess the degree of deterioration of spasticity when regular PT is interrupted in those patients. METHODS: We recruited 35 children with spastic CP who visited our hospital for PT, and whose Modified Tardieu Scale (MTS) scores were serially recorded including before and after a 10-day public holiday time frame period. The outcome measures were the angle of range of motion (ROM) of dorsiflexion of the ankle joint (R1 and R2) in the knee flexion and extension positions as assessed using the MTS. RESULTS: The range of dorsiflexion of the ankle joint (R1 and R2) after the holiday period was significantly decreased as compared with that measured ROM noted before the holiday period, regardless of the knee position, age, or gross motor function. The dynamic component of the MTS (R2–R1) showed a slight decrease in the knee flexion position. CONCLUSION: Interruption of regular PT aggravated spasticity and decreased ankle joint ROM in children with spastic CP. Our findings suggest that regular PT in the care continuum for children with CP is crucial for the maintenance of ROM in the spastic ankle joints.
Ankle Joint ; Cerebral Palsy ; Child ; Continuity of Patient Care ; Holidays ; Humans ; Knee ; Muscle Spasticity ; Outcome Assessment (Health Care) ; Range of Motion, Articular

Subtle dysfphagia, which is increased post-swallowing remnants, is a frequent finding in the elderly with various etiologies. These changes in swallowing are frequently overlooked by physicians. On the other hand, subtle changes evident on a videofluoroscopic swallowing study (VFSS) may suggest hidden disease. Therefore, clinicians should evaluate incidental dysphagia. Case 1: A 65-year-old man with no relevant medical history, presented with dysphagia and residual sensation during meals. VFSS showed moderate post-swallowing remnants in the vallecular fossa and pyriformis sinus. Further examination revealed prostate cancer with multiple bone metastases including the skull. Case 2: A 60-year-old man complained of residual sensation after swallowing, which started 2 months ago. He had a history of lung cancer. Pharyngeal residue was observed on VFSS. A brain metastasis was observed on MRI. Post-swallowing residue is often neglected or overlooked by clinicians who regard them as the features of aging. The present cases show that mild dysphagia with increased post-swallowing remnants may be an initial presentation of a hidden malignancy with metastasis. Physicians should consider unexplained dysphagia or tongue atrophy as possible initial presentations of hidden malignancies.
Aged ; Aging ; Atrophy ; Brain ; Deglutition ; Deglutition Disorders* ; Hand ; Humans ; Lung Neoplasms ; Magnetic Resonance Imaging ; Meals ; Middle Aged ; Neoplasm Metastasis ; Prostatic Neoplasms ; Sensation ; Skull ; Tongue