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Objective: To study the clinical and pathological features of a kindred with an adult-onset autosomal dominant leukodystrophy., Patients: Five symptomatic and nine asymptomatic at-risk members of the kindred., Interventions: Subjects underwent detailed histories and general and neurologic examinations. Further evaluation included electroencephalography, evoked potentials, electromyography, autonomic testing, and analysis of serum, urine, and cerebrospinal fluid. One patient underwent sural nerve biopsy and analysis. Another, previously studied patient, underwent a limited autopsy., Results: Cerebellar and pyramidal dysfunction began in the fourth and fifth decades of life; subtle autonomic symptoms were often present years earlier. Frontal lobe dysfunction and abnormalities of the central visual pathways were mild and of late onset. Sensorineural hearing loss was common. The peripheral nervous system was spared. Autopsy results of one patient revealed severe degeneration of the white matter at all levels of the neuraxis, but most prominent in the frontoparietal and cerebellar regions, with sparing of the subcortical U fibers. Histological and ultrastructural examinations failed to show evidence of a specific pathogenetic mechanism or etiology., Conclusion: This disorder seems to be a distinct type of hereditary leukodystrophy, but its exact nature remains unknown.

Objective: To describe the occurrence of progressive multifocal leukoencephalopathy (PML) in association with Wiskott-Aldrich syndrome, an X-linked recessive disorder with impairment of both cellular and humoral immunity., Design: A detailed analysis of this patient's clinical illness, immunologic factors, neuroradiographic findings, and brain histopathologic conditions was undertaken. The medical literature on PML complicating congenital immunodeficient states was also reviewed., Setting: A 1500-bed, university-affiliated, public health hospital., Patient: A 15-year-old boy with Wiskott-Aldrich syndrome. His neurologic illness was heralded by dysarthria and right-sided weakness and the diagnosis was established by brain biopsy specimen. Survival from the time of onset of PML was 10 months., Conclusion: Although PML typically occurs in the setting of severe acquired cellular immunodeficiency, often as a consequence of acquired immunodeficiency syndrome, organ transplantation, and leukemia and lymphoma, it may rarely accompany inherited immunodeficiency syndromes. The reported childhood cases of PML include three patients, aged 5, 11, and 18 years, with other inherited immunodeficiency syndromes. This patient represents the first time (to our knowledge) that PML has been reported to occur in association with Wiskott-Aldrich syndrome.

Background: The course of neurosyphilis has been reported to be altered by human immunodeficiency virus (HIV) infection. Prior reports of neurosyphilis occurring in association with HIV infection have been largely anecdotal and have failed to compare neurosyphilis in patients with HIV infection with an uninfected control group. This study was performed to determine if the clinical presentation encountered is different in the presence of HIV infection., Design: A retrospective, hospital-based, case series study based on chart review encompassing a 64-month period., Setting: The study was performed in a large, university-affiliated, public health trust hospital in south Florida., Patients: Forty-six hospitalized patients with neurosyphilis were identified; 13 patients fulfilled Centers for Disease Control and Prevention (Atlanta, Ga) criteria for acquired immunodeficiency syndrome (AIDS), 11 were HIV seropositive only, and 22 were HIV uninfected. Neurosyphilis was determined by a reactive cerebrospinal fluid VDRL slide test., Results: The HIV-infected patients (both AIDS and HIV-seropositive groups) were younger and more frequently had features of secondary syphilis, such as rash, fever, adenopathy, headache, or meningismus. Significant differences were observed in cerebrospinal fluid measurements when the HIV-infected group was compared with the HIV-uninfected group, including a higher mean white blood cell count in patients with AIDS and a higher mean protein level and a lower mean glucose level in the HIV-infected group. Syphilitic meningitis was more common in HIV-seropositive patients, although the HIV-uninfected patients presented with a greater variety of types of neurosyphilis. Ophthalmic syphilis was observed more frequently in the HIV-infected group., Conclusions: Significant differences exist between neurosyphilis occurring in the presence and absence of HIV infection.

We performed a sural nerve biopsy in a patient with cerebrotendinous xanthomatosis (CTX) because of electrophysiologic evidence of peripheral neuropathy. The sections showed a striking loss of myelinated axons, the distribution of which suggested a compressive and/or ischemic process. Biochemical analysis disclosed large amounts of cholestanol, a cholesterol derivative that characteristically accumulates in CTX. However, the biochemical abnormality was not associated with any obvious structural alterations in the myelin lamellae or with abnormal storage material in Schwann's cells.

In a retrospective study encompassing 42 months (January 1984 through July 1987), 12 patients were identified as having both neurosyphilis and acquired immunodeficiency syndrome. These patients constituted 44% of the entire group meeting rigorous diagnostic criteria for neurosyphilis and 1.5% of all patients hospitalized with acquired immunodeficiency syndrome. The typical patient with acquired immunodeficiency syndrome and neurosyphilis was young (mean age, 37 years) and male (83%). All had serological evidence of syphilis in both blood and cerebrospinal fluid. Syphilitic eye disease was surprisingly common in this group, occurring in 5 (42%). Four patients (33%) had been previously treated for syphilis. In 2, treatment for latent syphilis had been completed 3 and 5 months, respectively, before neurosyphilis was documented. Neurosyphilis is not uncommon in patients with acquired immunodeficiency syndrome in our population. In light of its diverse manifestations, syphilis should be considered in the differential diagnosis of any human immunodeficiency virus type 1-infected individual presenting with neurological, psychiatric, or ophthalmological disease.