PMID- 25416470
OWN - NLM
STAT- MEDLINE
DCOM- 20151026
LR  - 20181113
IS  - 1433-0350 (Electronic)
IS  - 0256-7040 (Linking)
VI  - 31
IP  - 3
DP  - 2015 Mar
TI  - Sudden death in a case of megalencephaly capillary malformation associated with a 
      de novo mutation in AKT3.
PG  - 465-71
LID - 10.1007/s00381-014-2589-y [doi]
AB  - INTRODUCTION: Megalencephaly capillary malformation (MCAP) is a syndrome 
      involving brain overgrowth, characterized by megalencephaly, capillary 
      malformations, asymmetric growth, polymicrogyria, polydactyly, and syndactyly. 
      Cerebellar tonsillar herniation (CTH) and ventriculomegaly are also observed in 
      over half the patients with this syndrome. Early sudden death has been reported 
      in MCAP, but its causes and the surgical strategies for its prevention remain 
      unclear. CASE REPORT: Here, we report on a patient with MCAP who died suddenly at 
      5 months of age. He presented with progressive macrocephaly and hypotonia. MRI 
      performed at 4 months of age showed tight posterior fossa, bilateral perisylvian 
      polymicrogyria, enlargement of the straight sinus, and a thickened corpus 
      callosum. However, since the patient did not exhibit capillary malformation, 
      polydactyly, or syndactyly, a definitive diagnosis of MCAP could not be made. He 
      died suddenly while asleep at home 1 month later. The sudden death of MCAP 
      patients was previously attributed to CTH, convulsion, or arrhythmia. In this 
      case, progressive cerebellar enlargement appeared to be the underlying cause. 
      After the patient's death, using his preserved DNA, a missense mutation in the 
      AKT3 gene was identified. Vakt murine thymoma viral oncogene homologue (AKT) is a 
      serine-threonine kinase that functions in the mammalian target of rapamycin 
      (mTOR) pathway and plays an important role in cell proliferation. CONCLUSION: 
      Accurate early diagnosis, including imaging and genetic analyses, and the 
      recognition and treatment of critical conditions are required to prevent the 
      sudden death of patients with MCAP.
FAU - Harada, Atsuko
AU  - Harada A
AD  - Department of Pediatric Neurosurgery, Takatsuki General Hospital, 1-3-13 
      Kosobecho, Takatsuki City, Osaka, 569-1192, Japan.
FAU - Miya, Fuyuki
AU  - Miya F
FAU - Utsunomiya, Hidetsuna
AU  - Utsunomiya H
FAU - Kato, Mitsuhiro
AU  - Kato M
FAU - Yamanaka, Takumi
AU  - Yamanaka T
FAU - Tsunoda, Tatsuhiko
AU  - Tsunoda T
FAU - Kosaki, Kenjiro
AU  - Kosaki K
FAU - Kanemura, Yonehiro
AU  - Kanemura Y
FAU - Yamasaki, Mami
AU  - Yamasaki M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20141122
PL  - Germany
TA  - Childs Nerv Syst
JT  - Child's nervous system : ChNS : official journal of the International Society for 
      Pediatric Neurosurgery
JID - 8503227
RN  - EC 2.7.11.1 (AKT3 protein, human)
RN  - EC 2.7.11.1 (Proto-Oncogene Proteins c-akt)
RN  - Capillary Malformations, Congenital, 1
SB  - IM
MH  - Capillaries/*abnormalities
MH  - *Death, Sudden
MH  - Humans
MH  - Infant
MH  - Male
MH  - Megalencephaly/complications/*genetics
MH  - Mutation/*genetics
MH  - Proto-Oncogene Proteins c-akt/*genetics
MH  - Vascular Malformations/complications/*genetics
EDAT- 2014/11/25 06:00
MHDA- 2015/10/27 06:00
CRDT- 2014/11/23 06:00
PHST- 2014/08/03 00:00 [received]
PHST- 2014/11/03 00:00 [accepted]
PHST- 2014/11/23 06:00 [entrez]
PHST- 2014/11/25 06:00 [pubmed]
PHST- 2015/10/27 06:00 [medline]
AID - 10.1007/s00381-014-2589-y [doi]
PST - ppublish
SO  - Childs Nerv Syst. 2015 Mar;31(3):465-71. doi: 10.1007/s00381-014-2589-y. Epub 
      2014 Nov 22.