Tuberculous meningoencephalitis (TM) is an acute, progressive form of tuberculosis (TB). The epidemiology, clinical signs, and diagnosis of TB are well established, but several atypical forms of tuberculous spinal arachnoiditis can be easily misdiagnosed. We report a rare case of TM with cauda equina arachnoiditis diagnosed by magnetic resonance imaging and an electrodiagnostic study. A 26-year-old otherwise healthy male patient experienced fever, headache, gait disturbance, and bladder and bowel incontinence. Needle electromyography (EMG) recordings were suggestive of bilateral diffuse lumbar and lumbosacral polyradiculopathy, and the pudendal sensory-evoked potential and bulbocavernosus reflex latencies were prolonged. Lumbar arachnoiditis is a rare clinical condition that warrants a heightened index of suspicion. It has diverse etiologies and symptoms, and it can lead to potentially serious and irreversible disorders. This case illustrates the usefulness of nerve conduction, EMG, and pudendal sensory-evoked potential and bulbocavernosus reflex latency studies in the diagnosis of cauda equina syndrome induced by TB arachnoiditis.

Pelizaeus-Merzbacher disease (PMD) is a X-linked recessive disorder with dysmyelination in central nervous system caused by proteolipid protein 1 ( PLP1 ) gene mutation. We report a case of PMD with PLP1 exon 1 duplication, previously misdiagnosed as cerebral palsy (CP). A 25-year-old male previously diagnosed as CP visited our clinic with progressive weakness and spasticity of bilateral lower limbs. Next generation sequencing revealed hemizygous duplication of exon 1 in PLP1 . Additionally, multiplex ligation-dependent probe amplification assay of the patient's mother showed the same mutation, which could finally confirm the diagnosis as PMD. This patient received comprehensive rehabilitation program, and helped the patient to achieve functional improvement. Proper diagnosis and therapeutic plan will be needed for the patients with PMD, before diagnosing CP rashly.

Mutations in the X-linked methyl-CpG-binding protein 2 ( MECP2) gene were first described as a cause of Rett syndrome. MECP2 duplication can cause intellectual disability, developmental delay, severe feeding difficulties, and recurrent infections. Here, we report a Korean family with MECP2 duplication syndrome, which was previously misdiagnosed as cerebral palsy. A man in his early 30 s visited our clinic with intellectual disability, speech impairment, epilepsy, and progressive spasticity. He had been previously misdiagnosed with cerebral palsy, and had received orthopedic surgeries such as musculotendinous lengthening and derotational osteotomy. After the surgeries, he received comprehensive rehabilitation. Upon carefully checking his family history, we noted that his younger brother had similar symptoms. Next-generation sequencing revealed whole exon duplication in MECP2 in both the patient and his brother; their mother also had this genetic mutation but was asymptomatic. Early diagnosis is essential for improving the success of MECP2 duplication syndrome treatment. Individuals with MECP2 duplication syndrome should be referred to specialists to manage multidisciplinary symptoms and to regularly check for complications that are common in this syndrome.