Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis

We studied a large kindred with a chronic progressive neurologic disorder affecting at least 10 men and 11 women in four generations in a pattern compatible with autosomal dominant inheritance. In 20 of the affected subjects, evaluated before the availability of computerized tomography and without regard to family history, the diagnosis was multiple sclerosis. Symptoms of the neurologic disorder begin in the fourth and fifth decades and include cerebellar, pyramidal, and autonomic abnormalities. The autonomic symptoms, which involve bowel and bladder regulation and orthostatic hypotension, may be the earliest changes but are frequently disregarded. Survival for 20 years after onset is common. The CT scan is striking and shows a symmetrical decrease in white-matter density, beginning in the frontal lobes but extending to all of the centrum ovale and the cerebellar white matter. Limited pathological observation reveals gross white-matter degeneration with microscopic vacuolation, preservation of U fibers and cortical structures, and no inflammatory changes or reactive gliosis. Because of its hereditary basis, the disorder should be susceptible to genetic definition and ultimately to treatment or prevention.     

A comparison between chemical analysis and magnetic resonance imaging with the clinical diagnosis of multiple sclerosis

Ninety-five patients suspected of having multiple sclerosis (MS) were evaluated by medical history and neurologic examination. Based on this evidence they were divided into three groups: clinically definite MS, not-definite MS, and not MS. The adjunct tests, chemical analysis, and magnetic resonance imaging (MRI), were also performed to assess the diagnosis of MS. Chemical analyses of paired serum and cerebrospinal fluid (CSF) samples were performed to identify oligoclonal immunoglobulin bands and to estimate both the albumin quotient and the IgG index. A positive correlation was found between the chemical test results and definite MS in 73 of 73 cases. In 11 of 12 cases of not-definite MS the chemical results were positive for MS. A positive correlation was also found between ten of ten cases that were not MS and negative chemical test results. MRI scans were positive for MS in 48 of 51 clinically definite MS cases and in 4 of 4 not-definite MS cases. MRI scans were negative for MS in five of six cases that were not MS. These findings demonstrate that combined determinations of serum and CSF proteins by simple zone electrophoresis and commercial immunochemical tests can be useful laboratory aids in the diagnosis of MS. The MRI scans provide additional evidence to support the diagnosis of MS.     

Do glucocorticoids cause spinal epidural lipomatosis? When endocrinology and spinal surgery meet.

Here, we report pathogenetic aspects of spinal epidural lipomatosis (SEL) based on a literature review. SEL is a rare entity but can cause significant morbidity. Its symptoms can be identical to those of more common disorders such as vertebral and disc disease, and cord lesions (for example, transverse myelitis, multiple sclerosis and syringomyelia). Therefore, it often goes undiagnosed. In addition, SEL occurs in patients on glucocorticoid therapy, which can lead to myopathy, thereby mimicking the motor symptoms of SEL. Glucocorticoids seem to play a major role in the development of SEL, although idiopathic SEL has also been reported. The latter occurs almost exclusively in obese individuals who may have concurrent hypercortisolism. Once clinically suspected, SEL is best diagnosed by magnetic resonance imaging (MRI). Treatment of SEL is directed at reducing body weight in patients with idiopathic SEL, and at decreasing glucocorticoid excess in patients with endogenous or exogenous hypercortisolism. In severe cases, decompressive laminectomy might become necessary to alleviate the neurological symptoms caused by spinal cord compression.     

Ophthalmic manifestations of Allgrove syndrome: report of a case.

A male patient with the ocular manifestations of Allgrove or triple-A syndrome is described. The need for early diagnosis based on alacrima, anisocoria and optic atrophy of this potentially fatal condition is stressed.     

Ill-defined neurological syndromes with autoimmune background: a diagnostic challenge

OBJECTIVE: To define the diagnostic features of a cohort of patients presenting with autoimmune manifestations and atypical neurological features not fulfilling criteria for a well defined neurological or connective tissue disorder. METHODS: Twenty-nine such patients were referred to our institution for evaluation. Nine were excluded from this study since they were diagnosed with antiphospholipid syndrome. The remaining 20 patients underwent complete clinical and laboratory evaluation, spinal fluid analysis, minor salivary gland biopsy (if sicca features were present), and were tested for evoked potentials. Magnetic resonance imaging (MRI) scans of the brain were performed in all patients and of the spine in 7. RESULTS: Brain and/or spinal cord MRI abnormalities were found in all 20 patients. Based on morphologic criteria and distribution, these lesions were classified into 3 subsets: (1) multiple sclerosis (MS)-like (4 patients); (2) vasculitic (8 patients); and (3) nonspecific (8 patients). The most frequent underlying abnormality in patients with subgroups 1 and 2 were the presence of homozygous methylenetetrahydrofolate reductase (MTHFR) mutations (5 of 12, 41.6%). The most common findings among subgroup 3 were the presence of antithyroid antibodies (6 of 8 patients, 75%). CONCLUSION: Homozygous MTHFR mutations are frequently encountered in patients presenting with neurological features and MS-like or vasculitic type MRI abnormalities in a setting of autoimmune disease. Nonspecific MRI changes are frequently associated with antibodies against thyroid antigens.