Two Cases of Progressive Myoclonus Epilepsy due to Gaucher's Disease, Type 3

Gaucher's disease is an autosomal recessive disorder caused by a deficiency of beta-glucosidase (glucocerebrosidase) which results in an accumulation of glucocerebroside in various organs and tissues. Type 3 (juvenile or subacute neuro-pathic) Gaucher's disease, presented here as progressive myoclonus epilepsy, occurs more rarely than type 1 (adult or nonneuropathic) or type 2 (infantile or neuropathic) Gaucher's disease. Two patients (brother and sister) with type 3 Gaucher's disease had or was expected to develop typical features of progressive myoclonus epilepsy: myoclonus, seizures, dementia, and cerebellar dysfunction. One of them showed Gaucher cells in a liver biopsy specimen and decreased beta-glucosidase activity (14% of normal) in the cultured skin fibroblasts, which confirmed the clinical diagno-sis of type 3 Gaucher's disease.

A Case of Deep Cerebral Vernous Thrombosis Associated with Hereditary Protein C Deficiency

Protein C exerts anticoagulatory effects by inactivating factor V and VII and stimulating fibrinolysis. Hereditary protein C-deficient individuals have an increased risk of venous thrombosis and thromboembolism at young age. To our knowledge, the deep cerebral venous thrombosis associated with protein C deficiency has not been reported in Korea. A 34-year-old man was admitted to our hospital because of sudden onset of headache with nausea, vomiting and ocular pain. He had suffered from recurrent deep vein thrombosis of the right lower extremity for one year. Brain MRI showed thrombosis of the straight and confluent sinuses and venous infarction of the right thalamus. The result of cerebral angiography corresponded to MRI findings. Protein C antigen concentration was decreased to 65% and its functional activity was 37%. Other coagulation test and routine blood examination was normal. The protein C level of his mother was low in both antigen and activity, but protein C levels of three siblings were normal in functional activity. We speculate that the etiology of the deep cerebral venous thrombosis in this patient is associated with protein C deficiency and suggest it is valuable to measure protein C level in patients with cerebral venous thrombosis.

Chronic Idiopathic Meningitis

We report three patients with chronic idiopathic meningitis in whom clinical feature were headache, fever, cranial nerve palsies or CSF showed inflammatory changes. Two patients showed diffuse thickening and enhancement of meninges on CT and MRI, had biopsy-proven intracranial pachymeningitis (diffuse fibrosis with inflammatory cells). In the other patient, MRI and CT showed normal findings. Two patients including one with idiopathic hypertrophic intracranial pachymeningitis improved with corticosteroid and immunosuppressant, while one patient did with lumboperitoneal shunt.

Tarsal Tunnel Syndrome: Electrophysiological Study Using Interdigital Nerve Condition Test

BACKGROUND AND OBJECTIVES: Tarsal tunnel syndrome is a rare compressive neuropathy. Reported cases of the tarsal tunnel syndrome in Korea were diagnosed by conventional nerve conduction and EMG studies, so their sensitivity was low and the differentiation from similar disorder such as lumbosacral radiculopathy was difficult. We report the usefulness of the interdigital nerve conduction study by using needle recording electrodes in the tarsal tunnel syndrome. METHODS: Sensory compound nerve action potentials were recorded orthodromically using the near-nerve needle and signal averaging techniques. Active and reference recording electrodes were inserted behind the medial malleolus above the flexor retinaculum. When the great toe was contracting minimally with less than 3mA for a stimulus of 0.05ms duration, the needle was considered to be adequately positioned. The first and fifth digital nerves were stimulated with ring electrodes and various interdigital nerves with interdigital stimulating surface electrodes which were specially designed. Averaged sensory action potential were recorded 3 times and superimposed after 64 stimuli per each time of recording. Amplitude of sensory nerve action potential, sensory nerve conduction velocity, and the presence of the temporal dispersion were checked. The results were as follow, 1. The causes of the 775 were trauma in 3 cases, sprain in 2 cases, unknown in 5 cases. 2. Associated disease were radiculopathy in 6 cases, rheumatoid arthritis In 1 case, carpal tunnel syndrome In 1 case. 3. Clinical findings included pain on the in 5 cases, tingling sensation in 4 cases, hyperesthesia in 4 cases, numbness in 2 cases and Tinnel's sign in 2 4. Five cases showed absent potential, 5 cases low amplitude, 4 cases dispersion, 2 cases slow nerve conduction velocity and 2 cases low amplitude and slow nerve conduction velocity by Interdigital nerve condution study. 5. Five lumbosacral radiculopathy without tarsal tunnel syndrome showed normal results in interdigital nerve conduction test. We concluded that interdigital nerve conduction test using needle recording electrode is useful methods of diagnosing tarsal tunnel syndrome as well as differentiating to other disorders having similar symptoms.

A Case of Disulfiram Neuropathy

Disulfiram, tetraethylthiuram disulfide, has been used in the clinical treatment of alcoholism since 1948. Aside from the manifestations of a disulfiram-alcohol reaction, disulfiram causes direct toxic side effects including psychiatric, cardiovascular, hematologic and neurologic disorders. The most frequent neurologic side effects are drowsiness, apathy, headache, decreased sexual potency, neuropathy, and optic neuritis. We describe a 26-year-old man who insidiously developed a distal synunetric sensorimotor polyneuropathy after seven years of disulfiram ingestion confirmed by nerve biopsy. He showed nearly complete resolution after the disulfiram was stopped.

A case of Spontaneous Intracranial Hypotension Treated with Epidural Blood Patch

Spontaneous intracranial hypotension, a syndrome of low CSF pressure, occurs without preceding events such as lumbar puncture, back trauma, operative procedure or medical illness. The most characteristic symptom is a headache that may be severe when the patient is upright and relieved when the patient is recumbent. Associated symptoms include neck stiffness, nausea and vomiting, tinnitus, vertigo and subdural effusion or hematoma. This syndrome usually resolves spontaneously or with strict bed rest. When the headache persists or is incapacitating, more aggressive treatment may be necessary. Autologous epidural blood patch is highly effective in the management of spontaneous intracranial hypotension. We report a case of spontaneous intracranial hypotension successfully treated with epidural blood patch.

A Case of Idiopathic Intracranial Hypertension Treated with Optic Nerve Sheath Fenestration

Idiopathic intracranial hypertension, a syndrome of obscure origin, occurs particularly in fat adolescent girls and young women. The usual symptoms are headache, blurred vision, a vague dizziness, horizontal diplopia and transient visual obscurations etc., and ophthalmoscopic examination reveals papillederma, due to increased ICP. Visual field testing usually shows slight peripheral constrictions with enlargement of the blind sports. CSF pressure is elevated in the range of 250 to 450 mm of water. Radiological or the other laboratory tests show no specific abnormalities. Treatment for idiopathic intracranial hypertension is focused on early detection and prevention of vision loss, the only permanent morbidity. Many different modes of medical treatment, including weight reduction, repeated lumber puncture, corticosteroids, diuretics, glycerol or carbonic anhydrase inhibitors, have successfully been tried up to 90% of the patients. In the remaining patients, particularly in those with measurable impairment of vision that does not respond to conventinal medical therapies, surgical procedure should be considered. We report a case of idiopathic intracranial hypertension successfully treated with optic nerve sheath fenestration.

Electomyographic Findings and Prognosis in Lumbosacral Radiculopathy

We analyzed 77 patients with lumbosacral radiculopathy on the basis of electromyography and radiologic study including CT scan and myelography. The results were as followings: 1. In the 62 male and 15 female subjects with a mean age of 39.3 years. The peak incidence was between ages 20 and 40 years (64%). 2. The causes of lumbosacral radiculopathy were herniated lumbosacral intervertebral disc (78%), lumbar strain (9%), fracture of lumbar vertebra (6%), spinal cord tumor (4%), spinal stenosis(3%) in order. 3. Most common involving site was L5 root on EMG and L4-5 intervertabral disc space on radiological study. 4. The prognosis of the patients with normal EMG finding was better than that of the patients with abnormal EMG finding(p<0.05). 5. There was no significant difference between the prognosis of the patients with abnormal radiologic finding and that of the patients with normal radiologic finding.

A Case Report of MELAS Syndrome

Mitochondnal encephalomyopathies are multisysternic diseases affecting predominantly the CNS and skeletal muscLes by mitochondrial dysfunction. Mitochondrial diseases include three distinct syndromes: mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): myoclonus epilepsy associated with ragged-red fibers (MERRF):and chronic progressive external ophthalmoplegia(CPEO). A characteristic abnormality called "ragged-red fibers" is usually seen on histochemical evaluation of muscle biopsy specimens in these diseases. The characteristic clinical presentations of MELAS are short stature, recurrent stroke like episodes, migraine-like headache, sensorineural hearmg loss, glucose intolerance and neuropathy. We now report a case of MELAS syndrome confirmed by demonstrating "ragged-red fibers" and abnormal mitochondria in muscle biopsy.

Clinical and Electrophysiological Findings in the Four Cases of Anterior Tarsal Tunnel Syndrome

We report clinical and electrophysiological findings in the four patients of anterior tarsal tunnel syndrome. All four patients, there was decreased pinprick sensation at the 1st interdigital space and limitation of digital dorsiflexion with atrophy of extensor digitorum brevis. Nerve conduction tests in the superficial peroneal, tibial and sural nerve were normal, but in the common peroneal nerve, the compound muscle action potential was decreased, while nerve conduction velocity between the knee and the ankle was normal with prolonged or upper normal limited terminal latency. Denervation potentials or giant MUPs had been found in the extensor digitonn brevis muscle, but absent in the tibialis anterior, extensor hallucis longus muscles.

The Frequency of Leukoaraiosis in Diabetes Mellitus and Hypertension; the Quantitative Correlation of Leukoaraiosis and its Risk Factors

The frequency and the correlation to leukoariosis were evaluated in the l00 cases of hypertension, in the 46 cases of diabetes mellitus and in 50 controls. The results were as follows: 1. The frequencies of leukoaraiosis were 35% in hypertension, 15% in diabetes mellitus and 4% in control. And there is significant difference in the frequency of leukoaraiosis between hypertension and control 2. The severity of leukoaraiosis significantly correlated with the level of diastolic blood poressure( p<0.05).

A Case Report of Electrophysiological Study in Severe Puffer Fish Poisoning

We report serial change of nerve conduction tests, somatosensory evoked potentials and brainstem auditory evoked pontenials in a case of puffer fish poisoning, who recovered completely from comatous state with respiratory and generalized muscle paralysis.

Sympatheic Skin Response and Nerve Conduction Studies in Diabetic Neuropathy

Fifty eight diabetic patients and 20 normal controls were studied by the method of nerve conduction studies(NCS) and sudomotor skin reponse(SSR), and the following results were obtained. 1. SSR was easily obtainable in all normal control. 2. The patients with abnormal NCV showed more numbers of abnormal SSR than the pat ients with normal NCV. 3. The patients with abnormal SSR were significantly older than the patient with normal SSR, but duration of disease was not different between the patients with normal SSR and with abnormal SSR. 4. The levels of sugar at fasting and postprandial 2 hours, and level of HbAlC in serum were not different between the patients of norrnal SSR and of abnormal SSR. 5. The incidence of autonomic symptoms, such as syncope, sweating abnormality, impotence in male, urinary disturbance, postural hypotension, was not different between the patient of norrnal SSR and of abnormal SSR. 6. Among the patients of diabets, the number of abnormal nerves in terminal latency motor and sensory nerve condcution velocity, and amplitude of compound motor and nerve action potentiaL were significantly correlated with the number of abnormal nerves in SSR. 7. The absolute values of motor terminal latency, motor and sensory conduction velocity and amplitude of compound motor and sensory action potential in the patient of abnormal SSR were significanly decreased thai. The patients with norrnal SSR. The values of terminal latency in abnormal SSR were significanly prolonged than the patients with normal SSR We concluded that the SSR test is a valuabe one for early detection of sympathetic nerve invasion in the diabetes' patients.

A Study of Optic Neuritis diagnosed by Pattern Shifted Visual Evoked Potential

The 24 cases of primary optic neuritis diagnosed by pattern shifted visual evoked potential (PSVEP) were studied and the following results were obtained. 1 The sex ratio was equal but over sixties of age all patients were male. Fifty percent of patients developed from 10 years to 30 years old with peak incidence of age. 2. Among 24 patients, 8 patients were diagnosed within 1 month, 9 patients from 1 to 6 months, and 7 aptients after 1 year. 3. The visual disturbance developed in all cases, but eye ball pain in one case. 4. The visual acuity of 36 years of optic neuritis revealed below 0.4 in 80%, but over 0.8 in 3 cases. 5. Among 6 patients who developed symptom at left side only, 4 patients revealed abnormal PSVEP at left side only but 2 patient revealed abnormal PSVEP at right side only, but 1 patient abnormal PSVEP bilaterally; among 11 patients who developed symptom bilaterally, 9 patients revealed abnormal PSVEP bilaterally, but 1 patient left side only and 1 patient right side only. 6. Among 7 patients who developed abnormal fundus finding at left side only, 4 patients revealed abnormal PSVEP at left side only but 3 patients bilaterally; among 7 patients who developed abnormal fundus finding at right side only, 6 patients revealed abnormal PSVEP at right side only but 1 patient bilaterally; among 10 patients who developed abnormal fundus finding bilatreally, 8 patients revealed abnormal PSVEP bilaterally, but I patient left side only and 1 patient right side only. 7. Forteen patient with corticosteriod treatment, 7 patients improved and almost improved patients were female below 40 years old.

One Case Report with the Occlusion of the Superior Mesenteric Artery and Left Renal Artery Complicated in the Mitral Stenosis

We report one case with the occlusion of the superior mesenteric artery and the left renal artery in the mitral stenosis with the review of the literatures.

Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) is a rare hereditary disorder and becomes clinically apparent during adolescence or in childhood and progresses s1owly throughout the adult years with a variability in the severity of expression. We experienced 3 cases of hereditary spastic paraplegia. Cases 1 and 2, which were pure HSP, had only the signs and symptoms of corticospinal tract involvement with the positive family history, and case 3, which was a complicated case of HSP, had distal muscle wasting, dysarthria, signs and symptoms of the corticospinal tracts, and a positive family history. All are thought to be inherited in an autosomal dominant pattern.

A Clinical Study on Cerebral Embolism in Rheumatic Heart Disease

Cerbral embolism in the patient with rheumatic heart disease is a serious complication and has poor prognosis. In view of the abundance of rheumatic heart disease in Korea, a retrospective clinical study was done on 49 cases of cerebral embolism with rheumatic heart disease admitted to Severance Hospital from 1970 through 1977. The resultls were as follows; 1. The age distribution of the 49 patients ranged from 20 to 70 years and the mean age was 48.7 years. Twenty-five patients, more than half of the total number, were in their 5th and 6th decades, and the peak of the incidence was in the 6th decade. Male to female ratio was 1:1.3. 2. Mitral stenosis was by far the most predominant valvular lesion representing 33 of the 49 cases, and 25 of the 33 patients had "pure" mitral stenosis. Mitral valve involvement represented 43 of the 49 cases. 3. Seventeen of the total 49 cases were in regular sinus rhythm whereas 32 of the 49 were in atrial fibrillation at the time of admission. 4. Twenty-two of the 49 patients expired during the hospitalization whereas only six made complete recovery and the other 21 made variable degrees of recovery. The anticoagulant treatment did not appear to make any significant difference in the mortality probably due to inadequacy of timing, completeness and followup.