In the early stages or atypical manifestation of parkinsonism, dopamine transporter imaging can assist the early diagnosis. We describe a 19 year-old man presenting with progressive gait disturbance, cervical dystonia and head tremor. 18F-FP-CIT PET (FluoroPropyl-Carbomethoxylodopropyl-nor-BTropane positron emission tomography) was done and interpreted as normal at other hospital, and his diagnosis remained baffling. He visited our hospital several months later, and the FP-CIT PET image was reviewed by the nuclear medicine physician in our hospital, who also interpreted it as normal. However, we reviewed his FP CIT-PET image because his clinical picture was strongly suggestive of juvenile parkinsonism. After adjusting the window setting of the PET image, we could appreciate the decreased uptake in the bilateral basal ganglia. Thus he was finally diagnosed as juvenile parkinsonism and gene test confirmed Park2 gene mutation. In conclusion, proper window setting is important during visual assessment of dopamine transporter imaging.
Parkinson Disease

Astasia-abasia refers to the inability to stand or walk despite possessing good motor strength and conserved voluntary coordination. Although it is usually regarded as a psychogenic disorder, organic causes have been reported. Herein we describe a patient who presented with alcohol-induced episodic astasia-abasia. Interestingly, SPECT performed during an episode showed hyperperfusion in the dorsal brainstem and subthalamic region. These areas roughly coincide with the mesencephalic locomotor region and subthalamic locomotor region, respectively, and it is conceivable that abnormal neural activity in these areas is related to the symptoms in our patient.

Ganglioneruroblastoma and neuroblastoma are among commonest types of childhood malignancy and a number of unique paraneoplastic syndromes have associated with both localized and disseminated neuroblastoma. The coincidence of neuroblastoma and myoclonic encephalopathy or other paraneoplastic syndromes occurs relatively rare, and therefore, failure to recognize this association could result in delays in both diagnosis and treatment, and the result could prove to be unfortunately fatal. The mechanism which underlies the remote damaging effect of neural crest tumor, especially neuroblastoma, on the nervous system resulting in myoclonic encephalopathy is by no means clear. In addition the nature and the extent of the pathologic lesion are inconsistent. We experienced a case of myoclonic encephalopathy associated with an occult mediastinal ganglioneuroblastoma in a 22-month-old girl who was hospitalized for inability to walk without support and tilting of the head to the left side. She became increasingly ataxic, and during the hospitalization myoclonic jerks of upper extremities and head along with chaotic, rapidly flickering, multidirectional spontaneous eye movements, were noted. Laboratory data included normal complete blood count, urinalysis, BUN and creatinine, electrolytes and bone marrow. Chest X-ray and chest CT revealed a relatively well marginated right posterior mediastinal mass. In a 24 hours urine excretion test, VMA and catecholamines were increased. Over the next 2 weeks, a surgical exploration revealed a right posterior mediastinal mass. Microscopically the mass proved to be a ganglioneuroblastoma, extending to right innominate artery and right axillary lymph nodes. Within 2 weeks after the surgery, radiotherapy (2,400 rads) and chemotherapy (CTX, DTIC, VCR) were started, but corticosteroid was not used. She has been free of tumor and abnormal neurological systemic symptoms and signs for 1 1/2 year since the completion of chemotherapy. In the 3 1/2 years follow-up period, her neurologic symptoms has completely resolved by the completion of 2 years chemotherapy. We report a case of mycoclonic encephalopathy associated with hidden ganglioneuroblastoma in 22-month-old girl.
Blood Cell Count ; Bone Marrow ; Brachiocephalic Trunk ; Catecholamines ; Creatinine ; Dacarbazine ; Diagnosis ; Drug Therapy ; Electrolytes ; Epilepsies, Myoclonic* ; Eye Movements ; Female ; Follow-Up Studies ; Ganglioneuroblastoma* ; Head ; Hospitalization ; Humans ; Infant ; Lymph Nodes ; Myoclonus ; Nervous System ; Neural Crest ; Neuroblastoma ; Neurologic Manifestations ; Paraneoplastic Syndromes* ; Radiotherapy ; Thorax ; Tomography, X-Ray Computed ; Upper Extremity ; Urinalysis

We report CT and MR findings in tow cases of primary malignant melanoma of the vagina, one arising from cervicovaginal junction mimicking squamous cell carcinoma of the cervix and the other one recurring at vagina after resection. Two cases of malignant melanoma had high-attenuation on CT and high signal intensity on T1-weighted MR images and enhanced well after gadopentetate dimeglumine administration.
Carcinoma, Squamous Cell ; Cervix Uteri ; Female ; Gadolinium DTPA ; Melanoma* ; Vagina*

We report CT and MR findings in tow cases of primary malignant melanoma of the vagina, one arising from cervicovaginal junction mimicking squamous cell carcinoma of the cervix and the other one recurring at vagina after resection. Two cases of malignant melanoma had high-attenuation on CT and high signal intensity on T1-weighted MR images and enhanced well after gadopentetate dimeglumine administration.
Carcinoma, Squamous Cell ; Cervix Uteri ; Female ; Gadolinium DTPA ; Melanoma* ; Vagina*

We present the first case report of fragile X-associated tremor ataxia syndrome (FXTAS) in the Republic of Korea. A 75-year-old male developed progressive gait ataxia, parkinsonism, and a mood disorder. Magnetic resonance imaging revealed T2 high signal intensity within the middle cerebellar peduncles. Analysis of the fragile X mental retardation 1 gene revealed a CGG trinucleotide repeat number of 136. FXTAS should be considered when a patient has atypical parkinsonism, cerebellar ataxia, and specific MRI abnormalities.

Although most of the known pathogenic mutations in the progranulin gene (PGRN) are null mutations leading to a reduction in the serum PGRN protein levels, missense mutations also have been identifi ed in patients with frontotemporal lobar degeneration and in patients with Alzheimer disease. Among these, p.R564C mutation was identifi ed in a late-onset AD patient with a reduced serum PGRN level. However, recently, we found the p.R564C mutation in a healthy control subject raising doubts whether this is a pathogenic mutation. In this report, we measured the serum PGRN levels in 20 subjects without the p.R564C mutation and in one subject with the p.R564C mutation, to determine whether the p.R564C mutation is associated with reduced serum PGRN levels. We found that the serum PGRN level in the subject with the p.R564C mutation was not reduced compared to the subjects without the p.R564C mutation. Our result reiterates that p.R564C may not be a pathogenic mutation.

No abstract available in English.
Gangrene

No abstract available.
Endoscopy, Digestive System ; Esophagitis, Peptic/diagnosis/*drug therapy ; Humans ; Male ; Middle Aged ; Proton Pump Inhibitors/*therapeutic use ; Severity of Illness Index ; Sucralfate/therapeutic use