Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disorder caused by mutations in the tyrosine kinase domain of the CSF1R gene. ALSP is often misdiagnosed as other diseases due to its rarity and various clinical presentations such as Parkinsonism, pyramidal signs, cognitive impairment and/or psychiatric symptoms. We describe an autopsy case of ALSP with a CSF1R mutation. A 61-year-old woman presented insidious-onset gait difficulty for 12 years since her age of 49, and premature ovarian failure since her age of 35. At initial hospital visit, brain magnetic resonance imaging revealed hydrocephalus. Initially, Parkinson's syndrome was diagnosed, and she was prescribed L-dopa/carbidopa because of spasticity and rigidity of extremities, which had worsened. Subsequently, severe neuropsychiatric symptoms and cognitive impairment developed and radiologically, features of leukoencephalopathy or leukodystrophy were detected. She showed a down-hill course and died, 12 years after initial diagnosis. At autopsy, the brain showed severe symmetric atrophy of bilateral white matter, paper-thin corpus callosum, thin internal capsule, and marked hydrocephalus. Microscopically, diffuse loss of white matter, relatively preserved subcortical U-fibers, and many eosinophilic bulbous neuroaxonal spheroids were noted, but there was no calcification. Pigmented glia with brown cytoplasmic pigmentation were readily found in the white matter, which were positive for Periodic acid-Schiff, p62, and CD163 stains, but almost negative for CD68. Whole-exome and Sanger sequencing revealed a CSF1R mutation (c.2539G>A, p.Glu847Lys) which was reported in prior one ALSP case. This example demonstrates that ALSP could be associated with premature ovarian failure.
Atrophy ; Autopsy ; Axons ; Brain ; Cognition Disorders ; Coloring Agents ; Corpus Callosum ; Cytoplasm ; Diagnosis ; Eosinophils ; Extremities ; Female ; Gait ; Humans ; Hydrocephalus ; Internal Capsule ; Leukoencephalopathies ; Magnetic Resonance Imaging ; Middle Aged ; Muscle Spasticity ; Neuroglia ; Parkinsonian Disorders ; Pigmentation ; Primary Ovarian Insufficiency ; Protein-Tyrosine Kinases ; White Matter

An inflammatory myofibroblastic tumor (IMT) is a solid tumor of unknown etiology frequently affecting children and young adults and commonly affecting the lung or orbital region. We present a case involving a 41-year-old man who had an IMT combined with Mycobacterium tuberculosis infection in the retroperitoneum. He presented with only pain in the right lower abdomen without accompanying symptoms; a retroperitoneal mass was found on computed tomography. The tumor had invaded the end of the ileum and was attached to the omentum, so mass excision could not be performed. The tumor was completely excised surgically and had histological features diagnostic of an IMT. Histologic findings of the omentum were positive for Ziehl-Nielsen staining for acid-fast bacilli and for a positive polymerase chain reaction for M. tuberculosis. The patient had no apparent immune disorder. These findings made this case exceptional because IMTs, which are mostly due to atypical mycobacteria, have been found mainly in immunocompromised patients.
Abdomen ; Adult ; Child ; Humans ; Ileum ; Immune System Diseases ; Immunocompromised Host ; Inflammation ; Lung ; Mycobacterium tuberculosis ; Myofibroblasts ; Nontuberculous Mycobacteria ; Omentum ; Orbit ; Polymerase Chain Reaction ; Tuberculosis ; Young Adult