Hypogeusia, with or without dysgenusia, and hyposmia, with or without dysosmia, followed an influenzal-like infection in 87 of 143 consecutive patients who presented at the Taste and Smell Clinic at the NIH with taste and smell abnormalities. Findings in this disease included pale nasal mucous membranes with marked patency of the nasal airway, a postive Rudolph sign, elevated detection and recognition thresholds for several tastants and odorants, disruption of the pore region of the tast dub observed on electron microscopy and infiltration of the upper lamina propria of the nasal mucous membrane wih chronic inflammatory cells observed on light microscopy. These findings, taken together, are relatively specific for the diagnosis of this surprisingly common disorder.
The lungs of 50 consecutive autopsied cases of acute leukemia were studied and cultures were obtained from 36. Thirty-one patients had major pulmonary lesions. Most of these were not recognizcd antemortem. Infection was the most common pulmonary complication. Pulmonary disease was present in 95% of those cases with abnormal chest x-rays but 59% of the patients with normal chest x-rays also had pulmonary pathology. Leukemic involvement was identified microscopically in 64% of the lungs. Peribronchial infiltrates were found most frequently. Patients with high levels of circulating abnormal cells had more severe leukemic involvement of the lung. Pulmonary hemorrhage was found in 54% of the lungs and was severe in 12%. The incidence of pulmonary hemorrhage was higher in patients with severe thrombocytopenia. Thirty-one major and 29 minor pulmonary infections were found in 40 of the patients. Many of these were unrecognized clinically and the offending organism was seldom isolated antemortem. The most frequently identified pathogens were Pseudomonas sp., Candidia sp., and Aspergillus sp.
Schimke immuno-osseous dysplasia (OMIM 242900) is an uncommon autosomal-recessive multisystem disease caused by mutations in SMARCAL1 (swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), a gene encoding a putative chromatin remodeling protein. Neurologic manifestations identified to date relate to enhanced atherosclerosis and cerebrovascular disease. Based on a clinical survey, we determined that half of Schimke immuno-osseous dysplasia patients have a small head circumference, and 15% have social, language, motor, or cognitive abnormalities. Postmortem examination of 2 Schimke immuno-osseous dysplasia patients showed low brain weights and subtle brain histologic abnormalities suggestive of perturbed neuron-glial migration such as heterotopia, irregular cortical thickness, incomplete gyral formation, and poor definition of cortical layers. We found that SMARCAL1 is highly expressed in the developing and adult mouse and human brain, including neural precursors and neuronal lineage cells. These observations suggest that SMARCAL1 deficiency may influence brain development and function in addition to its previously recognized effect on cerebral circulation.
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