Microhydranencephaly (MHAC) is a severe abnormality of brain development characterized by both microcephaly and hydranencephaly. Signs and symptoms may include severe microcephaly, scalp rugae (a series of ridges), and profound intellectual disability. Familial occurrence of the condition is very rare but it has been reported in a few families. It has been suggested that some cases of MHAC are inherited in an autosomal recessive manner via a loss-of-function mutation of the gene NDE1.
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. He died at five years old.
References
- ^ 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. S2CID 30667255.
- "OMIM Entry - # 605013 - MICROHYDRANENCEPHALY; MHAC". omim.org. Retrieved 2015-09-26.
- Pawlowski, A. "Baby born with part of brain missing turns 2, reaches new milestones". TODAY.com. Retrieved 2017-09-04.
- Micolucci, Vic (2020-04-07). "Jaxon Buell, Florida 'miracle boy,' passes away at 5". WJXT. Retrieved 2020-04-17.
This article incorporates text from this source, which is 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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