Biomedical subjects
Publications and source records attributed to A Lossos.
Permanent neurologic damage after an inferior dental nerve block is reported. Clinical manifestations included hemisensory syndrome, facial nerve palsy, hearing impairment, and ataxia. Possible mechanisms and preventive measures are discussed.
Inclusion body myositis affects primarily the proximal muscles but distal limb muscles are involved too in this chronic myopathy. Characteristic histopathologic findings include "rimmed vacuoles', inflammation and typical cytoplasmic and nuclear filamentous inclusions. The patients are usually unresponsive to steroids. We present four inclusion body myositis patients with atypical clinical presentations: one with scapuloperoneal syndrome, one with post-polio-like syndrome and two with associated immune-mediated diseases (one with undefined autoimmune disorder and the second with scleroderma). Two patients responded to high-dose steroid therapy. We suggest that the clinical spectrum of inclusion body myositis is wider than previously appreciated.
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We report the familial occurrence and apparent autosomal dominant inheritance of Sneddon's syndrome with variable clinical expression. The proband, a 40-year-old woman, presented with livedo reticularis and progressive neurological deterioration following a stroke. The diagnosis was confirmed by cerebral angiogram and skin biopsy, both showing the characteristic findings. Two of the patient's sisters were reported to have been similarly affected in the past. Her mother, two additional siblings and five of her seven children exhibited various vasospastic skin phenomena. Familial aggregation of this disorder may be common and a genetic basis may be involved in its pathogenesis.
We report a new neurocutaneous syndrome of apparent autosomal recessive inheritance consisting of early-childhood-onset palmoplantar keratoderma followed in adulthood by progressive tetrapyramidal syndrome and cognitive impairment. Of the four affected siblings, two were available for evaluation. Investigation disclosed cerebral white-matter involvement on MRI and arylsulfatase A pseudodeficiency carrier state, which was also identified in clinically unaffected family members. Since skin biopsies showed dermal connective tissue abnormalities, we studied collagens I, III, and VI biosynthesis. Northern blotting of RNA extracted from cultured skin fibroblasts revealed an increased steady-state messenger RNA (mRNA) level of alpha 1(VI) collagen, whereas no differences were detected for pro alpha 1(I), pro alpha 1(III), and tropoelastin mRNAs. The skin content of collagen and total protein was higher in the patients than in controls. We suggest that an extracellular matrix abnormality may be involved in the pathogenesis of this disorder.
UNLABELLED: To determine the frequency, spectrum, and clinical features of neurologic disorders associated with ulcerative colitis (UC) and Crohn's disease (CD). BACKGROUND: Extraintestinal manifestations of inflammatory bowel disease (IBD) are well documented, but the association of IBD with neurologic involvement is rare and often controversial. METHODS: Tertiary care center ambulatory and hospital services data bank retrospective computerized search with subsequent file review. PATIENTS: From among 638 IBD patients diagnosed from 1981 to 1991, we identified 10 CD patients and nine UC patients with neurologic involvement unrelated to a defined systemic or iatrogenic cause. Neurologic disorders diagnosed 15 or more years before the intestinal symptomatology were excluded. RESULTS: Three percent of IBD patients had neurologic involvement. In 14 of 19 (74%), it started within a mean of 5.7 years (range, 0.7 to 12 years) after the diagnosis of bowel disease, and in two of 19 (10%) it occurred at the time of IBD exacerbation. During the course of IBD, 10 of 19 patients (53%) exhibited other extraintestinal manifestations. Peripheral nerve disorders were observed in six UC patients. Myelopathy (5 patients), myopathy (3), and myasthenia gravis (1) were diagnosed in eight CD patients and one UC patient. Cerebrovascular disorders occurred in two UC and two CD patients. CONCLUSIONS: Neurologic disorders associated with IBD are more common than appreciated and follow a different pattern of involvement in UC and CD. A prospective study is required to define the nature of this association.
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Intracranial haemorrhage (ICH) is a known grave complication of leukaemia and has been described post mortem following bone marrow transplantation (BMT). Ante mortem following BMT, the incidence and significance of ICH is not well defined. The records of 471 bone marrow transplantation recipients over 11 years at the Hadassah University Hospital Bone Marrow Transplantation Department were reviewed. The relevant data of all patients with ICH were analysed. A resolute diagnostic and treatment protocol for subdural haematomas had been employed. The indication for transplantation in 273 of the patients was leukaemia. Thirteen of these patients developed subdural haematomas within 42 days of the transplant, and nine of these haematomas were bilateral. None of the 198 patients with other malignancies or nonmalignant indications for BMT (predominantly aplastic anaemia and beta thalassaemia major) had subdural haematomas. One thalassaemia patient and three leukaemia patients had intracerebral haematomas. There was no mortality or major morbidity from the subdural haematomas, which were all successfully resolved. In contrast, all of the patients with intracerebral haematomas consequently died. Subdural haematomas occur in approximately 5% of patients with leukaemia following BMT, but the clinical outcome is relatively benign. Intracerebral haematomas are a sporadic, lethal complication following BMT.(ABSTRACT TRUNCATED AT 250 WORDS)
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Thirty-one (23%) of 137 patients treated for leptomeningeal metastases (LM) achieved a sustained off-therapy response of at least 6 months' duration following treatment by a standard protocol. Of the 31 patients, equal distribution was found among various tumors: lymphoma, 13/44 (29%); breast carcinoma, 10/51 (20%); and other tumors, 8/42 (19%). Neuroimaging of the neuraxis disclosed subarachnoid deposits in 70%, with unexpected findings in 55%. At withdrawal of therapy, all 13 patients with lymphomas had achieved a complete response, and for those with the other tumors, 61% had a partial response. Off-therapy relapse was unrelated to the type of attained response and occurred in nine patients (29%) after a median time of 12 months. Five patients obtained a second prolonged response, mainly by systemic therapy. All eight patients who received only systemic therapy for their LM responded to treatment, four with a complete response. All others received both systemic and intra-CSF treatment and maintained a systemic response. Delayed complications occurred in 58%, with leukoencephalopathy equally affecting patients exposed and patients not exposed to cranial irradiation. The median survival of the whole group was 23 months. We conclude that in LM (lymphomas excluded), a partial response is compatible with a prolonged off-therapy response. Since LM may respond to systemic treatment, the role of intra-CSF therapy, with its associated complications, deserves a prospective reevaluation.
Familial Mediterranean fever (FMF) is an inherited disorder characterized by recurrent attacks of fever and polyserositis of unknown origin. Neuro-ophthalmologic involvement is rare. We describe a previously unreported association of FMF with optic neuritis in two patients.
Retrospective evaluation of 120 patients treated for leptomeningeal metastases at the Hadassah Hebrew University Hospital disclosed 3 patients with spontaneous spinal subarachnoid hemorrhage (SAH) occurring in the absence of bleeding tendency. These patients are described in detail. A search of the English literature revealed only 2 additional cases. The primary neoplasm originated in the central nervous system in 4 of these 5 patients; a resection of an intraparenchymal posterior fossa tumor antedated the development of subarachnoid seeding in 3 of the 5 patients; SAH occurred in face of a negative CSF cytology and in the presence of macroscopic subarachnoid deposits that were diagnosed with the aid of neuroimaging techniques. It is suggested that spontaneous spinal SAH in a patient with a history of primary or secondary brain tumor and with no bleeding tendency indicates probable presence of macroscopic leptomeningeal deposits.
We retrospectively evaluated 42 consecutive cancer patients with numb chin syndrome (NCS). Breast cancer comprised 64% of the primary tumors, and lymphoproliferative neoplasms comprised 14%. A standard workup (including imaging of the brain, base of skull, and mandible, and CSF analysis) led to the diagnosis of a metastatic etiology in 89% of the patients. Fifty percent of the patients had mandibular metastases, 14% base-of-skull bone lesions, and 22% leptomeningeal seeding. NCS was a late manifestation of malignancy, associated with disease progression in 67% of the patients or heralding a relapse, which was often confined to the leptomeninges, in 31%. Although various therapeutic strategies led to resolution of NCS, median survival after its diagnosis was 5 months when due to bone metastases and 12 months if associated with leptomeningeal seeding.
We describe 2 unrelated patients with adult polyglucosan body disease (APBD) diagnosed by sural nerve biopsy. Both patients were offspring of consanguineous marriages. They presented clinically with late onset pyramidal tetraparesis, micturition difficulties, peripheral neuropathy, and mild cognitive impairment. Magnetic resonance imaging of the brain revealed extensive white matter abnormalities in both. In search of a possible metabolic defect, we evaluated glycogen metabolism in these patients and their clinically unaffected children. Branching enzyme activity in the patients' polymorphonuclear leukocytes was about 15% of control values, whereas their children displayed values of 50 to 60%, suggesting a possible autosomal recessive mode of transmission. This is the first report of an inherited metabolic defect in patients with adult polyglucosan body disease. We suggest that branching enzyme dysfunction may be implicated in the pathogenesis of some patients with adult polyglucosan body disease.
A 33-year-old man developed severe sensory peripheral neuropathy associated with low serum folate levels. No systemic disease was identified on the initial evaluation, but 21/2 years later he developed clinical and radiological features of Crohn's disease, confirmed by intestinal biopsy. Thus, sensory polyneuropathy may occur as the first manifestation of Crohn's disease.
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