Microhydranencephaly

Microhydranencephaly (MHAC) is a severe abnormality of brain development characterized by both microcephaly and hydranencephaly.[1] Signs and symptoms may include severe microcephaly, scalp rugae (a series of ridges), and profound developmental delay. Familial occurrence of the condition is very rare but it has been reported in a few families. It has been suggested that MHAC is possibly inherited in an autosomal recessive manner involving a mutation of the gene NDE1.[1][2]

Microhydranencephaly
Other namesNDE1-related microhydranencephaly

Notable cases
  • Jaxon Buell was born on August 27, 2014 with 80% of his brain, and most of his skull, missing. He surpassed all doctors expectations, who did not expect him to live to his second birthday.[3]

References
  1. Behunova, Jana; Zavadilikova, Eva; Bozoglu, Tarik M.; Gunduz, Aysegul; Tolun, Aslihan; Yalcinkaya, Cengiz (2010-01-01). "Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence". Clinical Dysmorphology. 19 (3): 107–118. doi:10.1097/mcd.0b013e32833946e9. PMID 20375726.
  2. "OMIM Entry - # 605013 - MICROHYDRANENCEPHALY; MHAC". omim.org. Retrieved 2015-09-26.
  3. Pawlowski, A. "Baby born with part of brain missing turns 2, reaches new milestones". TODAY.com. Retrieved 2017-09-04.

This article incorporates text from a publication now in the public domain: "Microhydranencephaly". Genetic and Rare Diseases Information Center. National Institutes of Health. 11 April 2012. Retrieved 26 September 2015.


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