ABSTRACT
In 1980 Sedaghatian described an Iranian infant who died shortly after birth. At autopsy, he was found to have subacute myocarditis, cortical necrosis of kidneys, and adrenal and pulmonary hemorrhage. His skeletal abnormalities included mild rhizomelic shortness of his limbs and platyspondylyl and "laciness" of the iliac wings. In 1987 Optiz et al. described another Iranian infant with a similar perinatal course and roentgenograms. This infant was born to first cousins, suggesting an autosomal recessive single gene defect. We report our findings of another infant with a lethal course.
Subject(s)
Osteochondrodysplasias/diagnosis , Bone and Bones/diagnostic imaging , Bone and Bones/pathology , Consanguinity , Heart Block/complications , Heart Block/drug therapy , Humans , Infant, Newborn , Isoproterenol/therapeutic use , Male , Osteochondrodysplasias/complications , Osteochondrodysplasias/genetics , Osteochondrodysplasias/pathology , RadiographyABSTRACT
We report the case of a man who at 42 years of age had right frontal lobectomy for removal of a benign oligodendroglioma. Seventeen years later, at age 60, he had resection of a fourth ventricular vermian lesion, which was found to be histologically identical to the original lesion. A further lesion in the left occipital lobe was not biopsied but was treated with radiation therapy. We suggest that these subsequent two neoplasms represent CSF spread of the original tumor. This case emphasizes the need for indefinite longitudinal surveillance for these patients.
Subject(s)
Brain Neoplasms/complications , Neoplasm Seeding , Oligodendroglioma/complications , Adult , Brain Neoplasms/cerebrospinal fluid , Brain Neoplasms/diagnosis , Cerebral Ventriculography , Humans , Magnetic Resonance Imaging , Male , Oligodendroglioma/cerebrospinal fluid , Oligodendroglioma/diagnosis , Tomography, X-Ray ComputedABSTRACT
Neuronal intranuclear hyaline inclusion disease (NIHID) has been recognized in 14 patients. It usually occurs in the first and second decades but has been seen in the sixth. Both sexes are affected by this sporadic multisystem degenerative disorder that has involved the central and peripheral nervous systems with fibrillar and granular intranuclear inclusions. NIHID appears to be several variants of a multisystem degenerative disease as illustrated by the combination of a spontaneous, degenerative central and peripheral nervous system disorder with neuronal intranuclear inclusions and severe atherosclerotic coronary artery disease in a 23-year-old white man. Beginning at 11 years of age, this patient had experienced diffuse muscle spasms, dysarthria, dysphagia, tremors, ataxia, oculogyric crises, progressive muscle weakness, and atrophy. At autopsy, neuronal intranuclear hyaline inclusions and neuronal loss were seen in his brain, brainstem, cerebellum, spinal cord, bowel, bladder, and esophagus. These fibrillary and granular Cowdry type A and B intraneuronal inclusions were consistent with the diagnosis of NIHID associated with severe coronary atherosclerosis.
Subject(s)
Coronary Artery Disease/complications , Hyalin/metabolism , Inclusion Bodies/metabolism , Nervous System Diseases/complications , Neurons/metabolism , Adult , Cerebellum/pathology , Eosinophilia/complications , Eosinophilia/pathology , Humans , Inclusion Bodies/ultrastructure , Male , Microscopy, Electron , Nerve Degeneration , Nervous System/pathology , Nervous System Diseases/metabolism , Nervous System Diseases/pathology , Neurons/ultrastructure , Olivopontocerebellar Atrophies/complications , Olivopontocerebellar Atrophies/physiopathologyABSTRACT
A patient with ovarian carcinoma who subsequently developed the paraneoplastic syndrome of cerebellar degeneration is presented. The literature is reviewed and possible explanations of the phenomenon are discussed.
Subject(s)
Adenocarcinoma, Papillary/pathology , Cerebellar Diseases/pathology , Ovarian Neoplasms/pathology , Paraneoplastic Syndromes/pathology , Abdominal Neoplasms/secondary , Adenocarcinoma, Papillary/secondary , Adenocarcinoma, Papillary/surgery , Autopsy , Cerebellar Diseases/therapy , Combined Modality Therapy , Female , Humans , Melphalan/therapeutic use , Middle Aged , Neurologic Examination , Ovarian Neoplasms/surgery , Physical Therapy Modalities , Thiamine/therapeutic useABSTRACT
An incidental case of cervical blastomycosis discovered by examination of a Papanicolaou smear is reported. Examinations revealed no other focus of blastomycosis in the patient. Since her husband was undergoing treatment for disseminated blastomycosis involving the lungs and prostate at the time the fungus was found, this case may represent venereally transmitted blastomycosis.
