title: Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids.
abstract: BACKGROUND
  Hereditary diffuse leukodystrophy with spheroids is a rare type of leukoencephalopathy. Mutations in the colony stimulating factor 1 receptor have recently been identified to be the cause of this microgliopathy. Clinical and radiological presentation can often misguide physicians during the diagnosis of patients with this underdiagnosed disease.
  
  
  METHODS
  We present a 29 year-old woman with a rapid course of hereditary diffuse leukodystrophy with spheroids. She mainly showed cognitive impairment and severe motor dysfunctions. Her MRI showed spotted and confluent hyperintensities of the white matter on T2-weighted images involving the corticospinal tract as well as the corpus callosum. Further, those lesions showed striking restricted diffusion. As this restricted diffusion in all areas showing signs of leukoencephalopathy was so impressive we searched Medline for these terms and got hereditary diffuse leukodystrophy with spheroids as one of the first results. After a comprehensive diagnostic workup and exclusion of other leukoencephalopathies, stereotactic biopsy and genetic testing confirmed the diagnosis.
  
  
  CONCLUSIONS
  This case points out at two important features of hereditary diffuse leukodystrophy with spheroids being spotted and/or confluent leukoencephalopathy with areas of restricted diffusion. This might help to identify more patients with this underdiagnosed disease. Moreover, the rapid clinical course in our patient raises the question whether the relatively pronounced areas of restricted diffusion are indicative of a more acute progression of the disease.
authors.affiliation: Department of Neurology, Goethe University Hospital, Frankfurt, Germany. Marie.Meyer-Ohlendorf@kgu.de.
authors.forename: Marie
authors.initials: M
authors.lastname: Meyer-Ohlendorf
authors.affiliation: Edinger Institute (Institute of Neurology), Goethe University Hospital, Frankfurt, Germany. AnneKristin.Braczynski@kgu.de.
authors.forename: Anne
authors.initials: A
authors.lastname: Braczynski
authors.affiliation: Institute of Neuroradiology, Goethe University Hospital, Frankfurt, Germany. Omar.Al-Qaisi@kgu.de.
authors.forename: Omar
authors.initials: O
authors.lastname: Al-Qaisi
authors.affiliation: Department of Neurosurgery, Goethe University Hospital, Frankfurt, Germany. flo.gessler@gmail.com.
authors.forename: Florian
authors.initials: F
authors.lastname: Gessler
authors.affiliation: CeGaT GmbH, Tübingen, Germany. Saskia.Biskup@cegat.de.|Hertie Institute for Clinical Brain Research, Tübingen, Germany. Saskia.Biskup@cegat.de.
authors.forename: Saskia
authors.initials: S
authors.lastname: Biskup
authors.affiliation: Department of Neurosurgery, Goethe University Hospital, Frankfurt, Germany. lutz.weise@med.uni-frankfurt.de.
authors.forename: Lutz
authors.initials: L
authors.lastname: Weise
authors.affiliation: Dr. Senckenberg Institute of Neurooncology, University Hospital Frankfurt, Goethe University, Schleusenweg 2-16, 60528, Frankfurt, Germany. joachim.steinbach@med.uni-frankfurt.de.
authors.forename: Joachim P
authors.initials: JP
authors.lastname: Steinbach
authors.affiliation: Institute of Neuroradiology, Goethe University Hospital, Frankfurt, Germany. Marlies.Wagner@kgu.de.
authors.forename: Marlies
authors.initials: M
authors.lastname: Wagner
authors.affiliation: Edinger Institute (Institute of Neurology), Goethe University Hospital, Frankfurt, Germany. Michel.Mittelbronn@kgu.de.
authors.forename: Michel
authors.initials: M
authors.lastname: Mittelbronn
authors.affiliation: Dr. Senckenberg Institute of Neurooncology, University Hospital Frankfurt, Goethe University, Schleusenweg 2-16, 60528, Frankfurt, Germany. oliver.baehr@med.uni-frankfurt.de.
authors.forename: Oliver
authors.initials: O
authors.lastname: Bähr
mesh_terms: D000328:Adult; D003072:Cognition Disorders / Q000175:diagnosis; D003337:Corpus Callosum / Q000473:pathology; D018450:Disease Progression; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D009154:Mutation; D011712:Pyramidal Tracts / Q000473:pathology; D016186:Receptor, Macrophage Colony-Stimulating Factor / Q000235:genetics*
chemical_list: D016186:Receptor, Macrophage Colony-Stimulating Factor