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.

Cerebral infarctions associated with intravenous use of methamphetamine

Methamphetamine is one of the most popular abuse drug in the South Korea. Intracranial hemorrhage or ischemic stroke have been well known as one of the complications with methamphetamine abuse. We experienced two cases with cerebral vasculopathy which had developed after intravenous use of methamphetamine. The first patient was a previously healthy 20-year-old woman, who was admitted because of drowsy mentality with left hemiparesis and dysarthria. The second patient was a 24-year-old man who was admitted because of seizure and left extremity weakness. They reported several intravenous administration of methamphetamine during previous months. In both case, brain CT showed cerebral infarction compatible with vascular territories. And also, carotid angiographys demonstrated that multiple intracranial vessels were involved with narrowing and stenotic nature, consisting with vasculitis in the both cases.

A case of cerebral infarction caused by occlusive vasculopathy after previous gamma knife radiosurgery for pituitary adenoma

The radiation-induced occlusive vasculopathy has been known as the one of the side effects of radiation therary The gamma knife for stereotactic radiosurgery has been used popularly as a valuable adjunctive therapeutic option in some patients with pituitary tumors for its accuracy and effectiveness. But the long term complication of gamma knife have not been revealed until now. In spite of the remarkable improvement in radiologic technology, the side effect of radiation induced vasculaopathy remains an unsolved issue. We experienced the occlusion of intracranial portion of the internal carotid artery in one patient with pituitary adenoma, who had been treated with gamma knife radiosurgery previously.

A case of cerebral infarction caused by occlusive vasculopathy after previous gamma knife radiosurgery for pituitary adenoma

The radiation-induced occlusive vasculopathy has been known as the one of the side effects of radiation therary The gamma knife for stereotactic radiosurgery has been used popularly as a valuable adjunctive therapeutic option in some patients with pituitary tumors for its accuracy and effectiveness. But the long term complication of gamma knife have not been revealed until now. In spite of the remarkable improvement in radiologic technology, the side effect of radiation induced vasculaopathy remains an unsolved issue. We experienced the occlusion of intracranial portion of the internal carotid artery in one patient with pituitary adenoma, who had been treated with gamma knife radiosurgery previously.

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.

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 Primary Leptomemngeal Melanoma

Primary leptomeningeal melanoma is a rare and aggressive tumor that originates from pial melanin-bearing cells typically along the cerebral conveidties or at the. Base of the brain. It has been hypothesized that malignant transformation Of the preexisting precursor cells leads to diffuse infiltration of the meninges by tumor and the onset of neurological symptoms and signs . The typical neurological symptoms and signs include psychiatric disturbances, seizures, and symptoros and signs of raised intracranial pressure secondary to hydrocephalus. Blindness has been reported as a late feature. Radiotherapy and chemotherapy has been using, but prognosis is poor We d be our experience with 24-years-woman in which the diagnosis of primary leptomeningea1 melanoma without melanotic pigmentation of variable areas of the skm was made.

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.