Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome.
METHODS
We describe a female patient with Arnold Chiari type I malformation, atypical Rett syndrome characterized by postnatal onset microcephaly, stereotypic hand movements, ataxia, severe developmental delay, intractable tonic-clonic seizures, and a MECP2 mutation with a unique set of clinical findings. Implementation of a ketogenic diet resulted in decreased seizure activity and an improvement in the patient's degree of social relatedness with her family members.


CONCLUSIONS
An early diagnosis of Rett syndrome allows families to maximize utilization of existing treatment modalities and seek appropriate genetic counseling and prenatal diagnoses. This case also provides further evidence for the treatment benefit of ketogenic diets for seizures in patients with Rett syndrome.
Giampietro
P F
PF
Department of Medical Genetic Services, Marshfield Clinic, Marshfield, WI, USA. giampietro.philip@marshfieldclinic.org
Schowalter
D B
DB
Merchant
S
S
Campbell
L R
LR
Swink
T
T
Roa
B B
BB
D001139:Arnold-Chiari Malformation / Q000150:complications* / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D050528:Diet, Carbohydrate-Restricted; D004677:Encephalocele / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007657:Ketone Bodies; D007662:Ketosis; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D008831:Microcephaly / Q000150:complications / Q000235:genetics; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D015518:Rett Syndrome / Q000150:complications / Q000178:diet therapy / Q000235:genetics*; D012640:Seizures / Q000150:complications / Q000188:drug therapy / Q000235:genetics
D007657:Ketone Bodies; D051783:Methyl-CpG-Binding Protein 2