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A 42-year-old woman presented at our hospital with acute paraphasia and word finding difficulty. She was not paralyzed or ataxic. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) was diagnosed based on brain MRI finding of edematous lesions in bilateral temporal lobe cortexes that did not match the vascular territory, elevated lactate and pyruvate levels in blood and cerebrospinal fluid, and the presence of a mtDNA 3243AG mutation. From six months before her visit, she had persistent anorexia, bloating, nausea and vomiting, and weight loss to 25 kg. We diagnosed her condition as chronic intestinal pseudo-obstruction (CIPO) associated with MELAS, because a gastroenterologist had previously diagnosed her with megacolon associated with colonic dysfunction. Usually, CIPO is often associated with the chronic phase of MELAS. However, since CIPO complication from the early stage of the disease is occasionally encountered, it is necessary to include mitochondrial disease in differential diagnosis of CIPO of unknown cause.

A 33-year-old man with an unremarkable family history has had limb muscle weakness, joint contracture and skeleton deformation from early childhood. He was diagnosed with spinal muscular atrophy (SMA) by a pediatrician. He needed assistance and used orthoses in his daily life. There was no subjective sensory disturbance. However, physical examination showed slight sensory impairment, and nerve conduction study indicated sensory motor axonal neuropathy. This finding suggested Charcot-Marie-Tooth disease (CMT). Gene analysis detected MORC2 S87L mutation, leading to a diagnosis of CMT type 2Z. Patients with MORC2 S87L mutation are known to exhibit a severe phenotype, and may mimic SMA. It is important to demonstrate subclinical sensory neuropathy in patients with MORC2 S87L mutation mimicking SMA.

A 70-year-old man, a urinary retention of unknown origin from 10 years ago, decreased cognitive function from 4 years ago, vision impairment advanced a year ago. Brain MRI with DWI showed high intensity erea in the cortico-medullary junction. We diagnosed as intranuclear inclusion body disease (NIID) because of p62-positive intranuclear inclusion bodies by skin biopsy. Electroretinogram revealed amplitude reduction in the cone response superiority. Nerve conduction test showed mild conduction velocity reduction. Furthermore, in the somatosensory evoked potential of the lower limb, latency of the first cortical component was prolonged. These electrophysiological abnormalities were considered to be associated with the pathological features of NIID.

A 61-year-old alcoholic man was admitted to our hospital because of disturbance of consciousness. He also exhibited external ophthalmoplegia, diplopia and mild rigidity, but tendon reflex was normal. On brain MRI, diffusion weighted images (DWI) and apparent diffusion coefficient (ADC) map depicted high intensity in the splenium of the corpus callosum. DWI showed high intensity, but ADC map depicted iso-intensity in bilateral precentral gyri. Marchiafava-Bignami disease (MBD) was diagnosed. After intravenous drip of vitamin, his symptoms improved rapidly and the abnormal MRI findings in the splenium of the corpus callosum and bilateral precentral gyri disappeared gradually. MBD is pathologically characterized by demyelination and necrosis in the corpus callosum, which are generally caused by cytotoxic edema. Our case suggests that vasogenic edema may occur at the early stage of the MBD.

A 57-year-old man initially developed chest discomfort, nausea, vomiting, headache and low-grade fever, followed by paraplegia, sensory disturbance below level Th5 and bilateral visual loss. He was admitted to our hospital on the 15th day of illness. MRI short T1 inversion recovery image showed multiple longitudinal lesions in the spinal cord below C3, and T2-weighted image showed abnormal hyperintensity within the left optic nerve. Cerebrospinal fluid (CSF) analysis revealed marked pleocytosis (1,719/μl) and hypoglycorrhachia (CSF glucose; 20 mg/dl). Intensive immunosuppressive therapy combined with antibiotics and antiviral agent were started immediately, resulting in relatively good visual outcome but no improvement of paraplegia and sensory disturbance. The patient's serum sample on admission was subsequently reported to be positive for anti-aquaporin-4 antibody. With no evidence of infectious diseases, neuromyelitis optica (NMO) was diagnosed. It should be borne in mind that marked hypogylcorrhachia may also be seen in NMO.

A 55-year-old man was admitted to our hospital because of acute onset of diplopia and gait disturbance. On admission, ophthalmoplegia, ataxia and areflexia were observed. He was diagnosed with Fisher syndrome and given intravenous immunoglobulin therapy from day 6 to day 10 after disease onset. After treatment, ophthalmoplegia and ataxia began to improve. However, he developed taste impairment on day 13 and right hemifacial weakness on day 16 after onset. A blink reflex test revealed right facial nerve impairment. On day 42 after onset, facial weakness and taste impairment remitted, and the blink reflex test result was normalized without additional treatment. Although it has been known that 10% of patients with Fisher syndrome complicated by delayed facial nerve palsy, the mechanism of the facial nerve palsy has not been elucidated. Therefore, this is a significant report to describe delayed facial nerve palsy combined with taste impairment and successive recordings of blink reflex and facial nerve conduction in a patient with Fisher syndrome.

An 85-year-old woman was first admitted to our hospital because of right ptosis and diplopia. Examinations showed right oculomotor paralysis and reduced vision in the right eye. Serological and neuroradiological examinations failed to reveal the etiology. Oral prednisolone was started for a presumptive diagnosis of idiopathic oculomotor nerve palsy, which resulted in little improvement. Approximately ten months after the first admission, left ptosis appeared and she was re-admitted to our hospital. One day after admission, external ophthalmoplegia and conjunctival injection on the left side appeared. MRI revealed abnormal flow void in the right cavernous sinus. Based on cerebral angiographic findings, dural arteriovenous fistula of the right cavernous sinus was diagnosed. Symptoms on the left side were considered to result from increased perfusion pressure due to venous drainage via the intercavernous sinus to the contralateral cavernous sinus. After transvenous embolization, symptoms and signs improved gradually. In a case of external ophthalmoplegia with unknown etiology, detailed neuroradiologyical examinations such as cerebral angiogram are advisable.

A 30-year-old woman was admitted to our hospital because of intractable orbital pain and ptosis on the left side. On admission, she had left oculomotor, ophthalmic and maxillary nerves palsy. MRI revealed a contrast enhanced lesion of the left oculomotor and trigeminal nerves through the covernous sinus and orbita. We diagnosed her condition as Tolosa-Hunt syndrome. The orbital pain was resolved within 48-hours by the pulse therapy with intra-venous methylpredonisolone. The cranial nerve palsy was gradually improved, but never reached complete remission. The left oculomotor and trigeminal nerves also remained enhanced on MRI until 200 days from the onset. Although there have been few reports to demonstrate the contrast enhancement of cranial nerves in Tolosa-Hunt syndrome, these MRI findings may be a specific indicator of the pathological process.

Involvement of cranial nerves caused by cranial base lesions manifests diverse symptoms according to the localization of lesions. These localization-related symptoms are classified into syndromes such as orbital apex syndrome, cavernous sinus syndrome, and jugular foramen syndrome. Since the lesions may have various etiologies including infection, inflammation and tumor, etiological diagnosis should be performed simultaneously if possible. However, previous reports have described poor and/or fatal outcome following inappropriate treatment mainly due to difficulties in making a definitive pathological diagnosis. Nineteen patients with multiple cranial nerve involvement caused by skull base lesions were enrolled over the past 12 years. The patients were divided into an "infectious" group (n=11) and a "noninfectious" group (n=8) based on the final diagnosis. Chi-square analysis was conducted to examine the sensitivity and specificity of various factors including patient characteristics, clinical course and treatment response in infectious and noninfectious groups. Consequently, we identified some patients with good outcome irrespective of infectious or noninfectious etiology, even though a pathological diagnosis was not reached before the initial treatment. These patients with good outcome consistently received antifungal therapy in the early stage if infectious etiologies were suspected. We recommend conducting diagnostic therapy with antifungal drugs in patients with skull base lesions of unknown origin although infection cannot be excluded, when a pathological diagnosis is difficult due to various patient conditions.