Coexistence of Hereditary Spastic Paraplegia Type 4 and Narcolepsy: A Case Report.

Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by the mutations in the SPAST gene, which encodes a microtubule-severing protein named spastin. Spastin regulates the number and mobility of microtubules and is essential for axonal outgrowth and neuronal morphogenesis. Herein, we report a patient with SPG4 harboring a novel donor splice site mutation in the SPAST gene (c.1616+1dupG). Although SPG4 usually manifests itself as a pure form of HSP, this patient exhibited a slow progressive cognitive decline and also developed narcolepsy type 2 (narcolepsy without cataplexy) prior to the onset of SPG4. Recently, cognitive decline has attracted attention as a main non-motor symptom of SPG4. However, this is the first reported case of a patient developing both SPG4 and narcolepsy, although it remains unclear whether the manifestation of the two diseases is a coincidence or an association. In this report, we describe the clinical symptoms and genetic background of the patient.

[Mental hospital outbreak of Mycobacterium tuberculosis with few copies of IS6110 DNA fingerprinting].

We report a case of 4 patients with pulmonary tuberculosis in a mental hospital located in Yamanashi, Japan, between 2000 and 2004 in which 3 isolates of Mycobacterium tuberculosis were analyzed using IS6110 restriction fragment length polymorphism (RFLP). DNA fingerprinting showed them to be identical and the copy number to be two. Additional RFLP using (CGG)5 fingerprinting yielded the same result and a copy number of 15, suggesting a M. tuberculosis outbreak. (CGG)5 analysis thus proved useful in supplementary typing method like polymorphic G-C rich repetitive sequence (PGRS) or spoligotyping.

Survey of human immunodeficiency virus (HIV)-seropositive patients with mycobacterial infection in Japan.

OBJECTIVE: To assess DNA polymorphisms in mycobacterial isolates obtained from human immunodeficiency virus (HIV)-seropositive patients with tuberculosis in Japan from 1996 to 2003. METHODS: Restriction fragment length polymorphisms (RFLP) from Mycobacterium tuberculosis and Mycobacterium avium isolates obtained from individual seropositive patients with tuberculosis (n=78) were analysed with the use of IS6110 and (CGG)(5) or IS1245 and IS1311, respectively, as markers. As a control, the same procedures were applied to isolates from HIV-seronegative tuberculosis patients (n=87). RESULTS: Of 86 mycobacterial strains, M. tuberculosis, M. avium and Mycobacterium chelonae were identified in 48 (55.8%), 36 (41.9%) and 2 (2.3%) isolates, respectively. The obtained RFLP patterns of M. tuberculosis isolates from both the HIV-seropositive and -seronegative groups were variable, suggesting no obvious clustering among the isolates. Similar results were obtained in isolates of M. avium. CONCLUSIONS: This is the first report on the molecular epidemiology of Mycobacterium spp. isolated from HIV-seropositive patients in Japan. The results indicate that no particular clones of M. tuberculosis or M. avium prevail in HIV-seropositive patients in Japan. Further monitoring of mycobacterial infection associated with HIV infection in Japan should be continued.

[Clinical evaluation of causes of death in patients with pulmonary tuberculosis].

PURPOSE: We evaluated the cause of death in patients with active tuberculosis. OBJECT AND METHOD: 40 patients (male 32, female 8, mean age 76 years old), died under treatment for tuberculosis during 1999 to 2002 in our hospital, were analized. We compared patients' backgrounds, complications, extent of pulmonary tuberculosis, and outcome of the treatment between 40 died cases and 162 patients who were supposed to be successfully treated by cohort analysis (control group). RESULTS: 17 cases died of tuberculosis and 23 cases died of non-tuberculous diseases. Pneumonia occupied the top (9 cases) in the latter group. Died cases were higher in age and showed larger performance status score than the control group. Further, laboratory findings revealed poorer nutritional conditions and higher inflammatory reactions in the died group. The duration of symptoms before admission seemed to be longer in the died group, however, the difference with the control was not significant. All of the died group had complications and the rate of having liver diseases and cerebrovascular diseases was higher than that of the control group. Furthermore, the extent of lung lesions was more extensive in the died group. The frequency of changing drugs due to side effects was higher in the died group, therefore, the proportion of cases completed the standard treatment was lower in the died group. DISCUSSION AND CONCLUSION: Impossibility of continuing the standard treatment gave unfavorable impact in the died cases rather than the delay in their admission. Due to the above reasons, negative conversion of their sputum culture was difficult, and they died of tuberculosis directly or indirectly. Some of the patients who died of pneumonia (non-tuberculous death) might be included in cases died of tuberculosis.

[A case of miliary tuberculosis complicated with SIADH, brain tuberculoma, and tuberculous meningitis].

A 46-year-old man complained fever, headache, and vertigo after he was given steroid for sudden deafness. He was diagnosed as miliary tuberculosis by his chest CT findings. After admission, 4 anti-tuberculous drugs (INH, RFP, SM, and PZA) were prescribed but his laboratory findings showed SIADH, which was difficult to treat, and steroid was readministered. Brain MRI, examined 2 months after admission, showed brain tuberculomas, and examination of cerebrospinal fluid revealed a diagnosis of tuberculous meningitis. Three months later, meningitis deteriorated transiently, however symptoms and findings improved by increasing steroid. Later, miliary tuberculosis and SIADH were cured, however, some tuberculomas grew larger gradually on brain MRI, and spinal MRI showed tuberculomas in the spinal cord. LVFX, high concentration in CSF, was added. At present (2 yrs after beginning the therapy), lesions in the brain and spinal cord improved but remain with the sequelae.