Autopsy always teach and tell: neurodegeneration with brain iron accumulation: a case report.
Neurodegeneration with brain iron accumulation (NBIA), or Hallervorden- Spatz disease, is an extremely rare autosomal recessive disorder with cysteine-iron complex accumulation in globus pallidus, seen histopathologically. Magnetic resonance imaging offers an opportunity for diagnosis; however, therapeutic options are still ineffective. We report a case of 13-year-old girl, symptomatic since the age of three years with dystonia, poor scholastic performance and speech disturbances. She was admitted with aspiration pneumonia, and died before she could be investigated. Examination of brain at autopsy revealed iron deposition in bilateral globus pallidi, confirmed by special stains and elemental dispersion analysis by spectrometry and a diagnosis of Hallervorden- Spatz disease or NBIA was made. This report highlights the importance of autopsy and scanning electron microscopic examination in unsuspected cases where cause of death is not known.
Gupta
Ruchika
R
Department of Pathology, All India Institute of Medical Sciences, New Delhi.
Kumar
Ashok
A
Sharma
M C
MC
Sarkar
Chitra
C
Goyal
Vinay
V
Bihari
Madhuri
M
D000293:Adolescent; D001344:Autopsy; D001921:Brain / Q000473:pathology*; D001923:Brain Chemistry; D017809:Fatal Outcome; D005260:Female; D005917:Globus Pallidus / Q000737:chemistry / Q000473:pathology; D006651:Histocytochemistry; D006801:Humans; D007501:Iron / Q000032:analysis*; D013058:Mass Spectrometry; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis* / Q000473:pathology*
D007501:Iron