Subject(s)
Asthma/complications , Infarction/microbiology , Kidney Diseases/microbiology , Mucormycosis/complications , Acute Disease , Administration, Inhalation , Adrenal Cortex Hormones/administration & dosage , Adrenal Cortex Hormones/adverse effects , Adrenal Cortex Hormones/therapeutic use , Angiography , Asthma/drug therapy , Female , Humans , Infarction/diagnosis , Kidney Diseases/diagnosis , Middle Aged , Mucormycosis/chemically induced , Mucormycosis/pathology , Tomography, X-Ray ComputedABSTRACT
BACKGROUND: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (Nasu-Hakola syndrome) (PLO-SL) is an unusual cause of early dementia in which the decline in cognitive function is associated with multiple bone cysts, in particular in hands and feet. About 165 cases of this autosomal recessive hereditary disease have been reported worldwide, mostly from Finland and Japan. MATERIAL AND METHODS: In this article, case histories of PLO-SL are presented of two brothers who were born to consanguineous parents on an island outside the western coast of Norway. They are the 3rd and 4th patients in Norway described with this disorder. RESULTS: One of the brothers was diagnosed retrospectively and the diagnosis was not made in the other even when he had fractures without entirely adequate trauma. INTERPRETATION: It is suspected that the disease is underdiagnosed. For this reason, all patients with polycystic lesions in the skeleton should be evaluated for their mental state and all patients with an etiologically unclear dementia before the age of 50 should be investigated with x-rays of hands and/or feet.
Subject(s)
Bone Diseases , Dementia , Lipodystrophy , Adult , Bone Cysts/diagnostic imaging , Bone Cysts/pathology , Bone Diseases/diagnosis , Bone Diseases/diagnostic imaging , Bone Diseases/genetics , Bone Diseases/pathology , Bone Marrow/pathology , Brain/diagnostic imaging , Brain/pathology , Dementia/diagnosis , Dementia/genetics , Diagnosis, Differential , Hand/diagnostic imaging , Humans , Lipodystrophy/diagnosis , Lipodystrophy/diagnostic imaging , Lipodystrophy/genetics , Lipodystrophy/pathology , Magnetic Resonance Imaging , Male , Middle Aged , Pedigree , Syndrome , Tomography, X-Ray ComputedABSTRACT
Skull dimensions were measured on lateral skull radiographs in 33 adult patients with MRI-verified Chiari I malformations and in 40 controls. The posterior cranial fossa was significantly smaller and shallower in patients than in controls. In the patients, there was a positive correlation between posterior fossa size and the degree of the cerebellar ectopia, which might indicate that a posterior cranial fossa which was originally too small had been expanded by the herniation of hindbrain structures at an early stage. Pyramidal signs and cerebellar symptoms and signs, which may be due to compression of neural structures, were associated with a large degree of ectopia and a relatively large posterior cranial fossa. Syringomyelia and headache, which may be due to the valve action of the herniated cerebellar tissue, were not associated with a particularly large posterior fossa or herniation. No special clinical presentation was associated with a very small posterior cranial fossa, which may indicate that a small posterior cranial fossa per se has little or no clinical significance, although it may be the primary developmental anomaly.
