AANP-OREN American Association of Neuropathologists Online Resource for Education in Neuropathology

 48th Annual Diagnostic Slide Session, 2007 Case 3

Contributor: Angelica Oviedo, M.D., Kaiser Hospital, Oakland, CA, and Dr. C. Fallet-Bianco, Service de Neuropathologie, Centre Hospitalier Sainte-Anne, Paris, FRANCE

Moderator: E. Tessa Hedley-Whyte, M.D. Manager and Editor: Leroy R Sharer, M.D.

Clinical History: 2 week old male neonate born at 37 weeks gestational age with intractable seizures.  Clinical work-up including metabolic studies and muscle biopsy all normal.  History of one female and one male sibling with essentially identical clinical courses with neonatal deaths.  There is one living, healthy female sibling and one living, healthy male sibling.  The patient, mother and female deceased sibling all carry the same balanced t (8;15)(p21.1;q26.1).  The father and deceased male sibling have normal karyotypes.  Karyotypes of the live siblings are unknown.  Parents are consanguineous.

 

Necropsy Findings:

  1. 3486 g male neonate

  2. External examination:  well developed neonate with large broad-based nose

  3. Brain weight:  250 g

 

Material Submitted:

  1. MRI.

  2. H and E glass slide of either frontal or parietal or temporal lobe

Points for discussion:

  1. Diagnosis  Discussion   PDF File