ABSTRACT
Late-onset Krabbe disease may have variable misleading clinical manifestations and be a puzzling problem for physicians. We report clinical and peripheral nerve studies of three patients with adult-onset Krabbe disease. Two cases had a predominantly spastic paraparesis; in one case, the symptoms mimicked a cerebrovascular disorder. Predominantly, demyelinating neuropathy was observed in one case and axonal neuropathy in two cases. In all cases, no typical intracytoplasmic inclusions were found. These observations suggest that peripheral neuropathy in adult-onset Krabbe disease has variable clinical and pathological characteristics, different from those described in the classic form.
Subject(s)
Leukodystrophy, Globoid Cell/complications , Peripheral Nervous System Diseases/etiology , Adult , Biopsy , Brain/pathology , Cognition Disorders/etiology , Female , Gait Disorders, Neurologic/etiology , Gait Disorders, Neurologic/pathology , Galactosylceramidase/genetics , Humans , Leukodystrophy, Globoid Cell/pathology , Magnetic Resonance Imaging , Male , Middle Aged , Neurologic Examination , Peripheral Nerves/pathology , Peripheral Nervous System Diseases/pathologyABSTRACT
BACKGROUND: There are few epidemiological studies on neurological disorders in Albania. METHODS: A door-to-door survey was undertaken in two geographical areas (Tirana and Saranda) with different socioeconomic backgrounds. Two random samples of the local population underwent a structured interview to ascertain headache, epilepsy, dementia, parkinsonism, multiple sclerosis, polyneuropathy, stroke and cerebral palsy. Each diagnosis was made using standard criteria for epidemiological studies and was confirmed by history, neurological examination and, where available, the review of personal medical records. Lifetime prevalence ratios with 95% confidence intervals were calculated. RESULTS: Of the 9,869 individuals screened (Tirana 4,953; Saranda 4,916), 4,867 were males aged 1-91 years (median 39 years) and 5,002 were females aged 1-96 years (median 37 years). Crude prevalence ratios (per 1,000) were: headache 241.9 (233.5-250.3), polyneuropathy 32.5 (29.0-36.0), epilepsy 14.2 (11.7-16.3), stroke 12.4 (10.2-14.6), dementia 9.6 (7.7-11.5), parkinsonism 8.0 (6.2-9.8), cerebral palsy 4.8 (3.4-6.2), and multiple sclerosis 0.3 (0.0-0.6). Prevalence varied with age and gender, with differences across diseases. Except for polyneuropathy (Tirana 39.8; Saranda 25.2), ratios were not different in the two study areas. CONCLUSIONS: The prevalence of selected neurological disorders in Albania is higher than in other countries. Differences may be explained by study design, population structure and/or genetic and environmental factors.
Subject(s)
Nervous System Diseases/epidemiology , Adolescent , Adult , Aged , Aged, 80 and over , Albania/epidemiology , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Middle Aged , Nervous System Diseases/classification , Population Surveillance , Prevalence , Risk Factors , Young AdultABSTRACT
A patient with a hereditary neuropathy presented with a conus and cauda syndrome. CSF study showed a high protein content. Neuroradiological investigation results were consistent with a compression TH11-L4. The patient underwent TH11-L4 laminectomy.
