Document Detail

Midline cerebral dysgenesis, dysfunction of the hypothalamic-pituitary axis, and fetal alcohol effects.
MedLine Citation:
PMID:  8323485     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: Neuropathologic evaluation was performed on an infant with fetal alcohol effects. DESIGN: Coronal brain sections and representative tissue blocks stained with hematoxylin-eosin, silver stain, and immunocytochemical stains for hypothalamic and pituitary hormones were evaluated for neuropathologic abnormalities. PATIENT: A 2.5-month-old American Indian girl who had been exposed to first-trimester maternal binge alcohol abuse died after persistent problems of growth failure, sodium imbalance, aberrant temperature regulation, respiratory distress, and seizures. RESULTS: Autopsy revealed severe microcephaly, hypertelorism, midfacial hypoplasia, a high-arched palate, shortened palpebral fissures, and a small brain. The frontal lobes were fused anteriorly; olfactory bulbs and tracts were absent; and optic nerves were hypoplastic. An enlarged and bulbous hypothalamus obscured the pituitary gland. The thalamus and caudate nuclei were fused across the midline. Posteriorly, the single ventricle split to form rudimentary lateral horns. The anterior corpus callosum, septum pellucidum, fimbria, and fornices could not be identified. The anterior commissure and supraoptic nuclei were microscopically present. Many Purkinje cells were horizontally positioned, with abnormal dendritic structure. The posterior pituitary lobe was absent, and the infundibulum was flanked by a hypoplastic adenohypophysis and a large subarachnoid heterotopia. Immunocytochemical studies identified only vasopressin and neurophysin in the hypothalamus and only growth hormone and prolactin in the pituitary gland. CONCLUSION: To our knowledge, an association between fetal alcohol effects and a complex cerebral anomaly with features of incomplete holoprosencephaly and septo-optic dysplasia has not previously been reported and suggests a possible common pathogenesis needing further study.
C L Coulter; R W Leech; G B Schaefer; B W Scheithauer; R A Brumback
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Archives of neurology     Volume:  50     ISSN:  0003-9942     ISO Abbreviation:  Arch. Neurol.     Publication Date:  1993 Jul 
Date Detail:
Created Date:  1993-07-30     Completed Date:  1993-07-30     Revised Date:  2010-03-24    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  771-5     Citation Subset:  AIM; IM    
Department of Neurology, Creighton University, Omaha, NE 68131.
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MeSH Terms
Brain / abnormalities*
Fetal Alcohol Syndrome / pathology*
Hypothalamus / physiopathology*
Infant, Newborn
Optic Nerve / abnormalities
Septum Pellucidum / abnormalities

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