Coincidence of Semilobar Holoprosencephaly and Chiari II Malformation: Correlation of Prenatal Diagnostics and Neuropathologic Findings

As holoprosencephaly and Chiari II malformation differ considerably, both in pathogenesis and in phenotypic localization, the coincidence of both entities is extremely rare. The case presented is, to our knowledge, the first published report comprising a combination of a semilobar holoprosencephaly associated with a Chiari II malformation and a myelomeningocele diagnosed prenatally and confirmed by postmortem neuropathologic evaluation. These findings indicate that in the case of pre- and postnatal detection of a myelomeningocele and/or Chiari II malformation, possible additional intracranial malformation, such as a semilobar holoprosencephaly, should also be taken into account and vice versa. (J Child Neurol 2006;21:426—429; DOI 10.2310/7010.2006.00125).

[1]  W. Stewart Pathology and Genetics: Developmental Neuropathology , 2005 .

[2]  N. Rollins,et al.  Coexistent holoprosencephaly and Chiari II malformation. , 1999, AJNR. American journal of neuroradiology.

[3]  A. Barkovich,et al.  Middle interhemispheric fusion: an unusual variant of holoprosencephaly. , 1993, AJNR. American journal of neuroradiology.

[4]  M. Cohen,et al.  Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. , 1989, Teratology.

[5]  R. O’rahilly,et al.  Mediobasal prosencephalic defects, including holoprosencephaly and cyclopia, in relation to the development of the human forebrain. , 1989, The American journal of anatomy.

[6]  C. Britton Semilobar holoprosencephaly with associated Arnold‐Chiari variant , 1989, Journal of clinical ultrasound : JCU.

[7]  L. Rorke,et al.  Central nervous system anomalies associated with meningomyelocele, hydrocephalus, and the Arnold-Chiari malformation: reappraisal of theories regarding the pathogenesis of posterior neural tube closure defects. , 1986, Neurosurgery.

[8]  S. Matsumoto,et al.  Myelomeningocele before birth. , 1978, Journal of neurosurgery.

[9]  O. Robain,et al.  [Arhinencephalia. Clinical, anatomical and etiological study of 13 cases]. , 1972, Archives francaises de pediatrie.

[10]  Cohen Mm,et al.  Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis. , 1971 .

[11]  P. Frutiger Zur Frage der Arhinencephalie , 1969 .

[12]  P. Yakovlev PATHOARCHITECTONIC STUDIES OF CEREBRAL MALFORMATIONS: III. ARRHINENCEPHALIES (HOLOTELENCEPHALIES) , 1959, Journal of neuropathology and experimental neurology.

[13]  D. Mclone,et al.  The cause of Chiari II malformation: a unified theory. , 1989, Pediatric neuroscience.

[14]  W. Demyer,et al.  Holoprosencephaly: birth data, benetic and demographic analyses of 30 families. , 1975, Birth defects original article series.

[15]  R. Gorlin,et al.  Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis. , 1971, Birth defects original article series.

[16]  P. Frutiger [On arhinencephalia]. , 1969, Acta anatomica.

[17]  W. Demyer,et al.  Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. , 1963, Confinia neurologica.

[18]  E. Schwalbe,et al.  Über Entwicklungsstörungen des Kleinhirns, Hirnstamms und Halsmarks bei Spina bifida : Arnold'sche und Chiari'sche Mißbildung , 1906 .