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Familial Intracranial Hypertension in 2 Brothers WithPTENMutation: Expansion of the Phenotypic Spectrum
- Source :
- Journal of Child Neurology. 34:506-510
- Publication Year :
- 2019
- Publisher :
- SAGE Publications, 2019.
-
Abstract
- PTEN (Phosphatase and Tensin Homolog on chromosome TEN) encodes a vastly expressed tumor suppressor protein that antagonizes the PI3 K signaling pathway and alters the MTOR pathway. Mutations in PTEN have been described in association with a number of syndromes including PTEN hamartoma-tumor syndrome, macrocephaly/autism, and juvenile polyposis of infancy. Although there is a wide variability in the clinical and radiologic presentations of PTEN-related phenotypes, the most consistent features include macrocephaly and increased tumorigenesis. Intracranial hypertension may be idiopathic or secondary to multiple etiologies. We describe 2 siblings harboring a PTEN mutation who presented with macrocephaly and intracranial hypertension. Repeat brain MRIs were normal in both. Acetazolamide treatment normalized intracranial pressure, but several trials of medication tapering led to recurrence of intracranial hypertension symptoms. The clinical presentation of our patients expands the PTEN-related phenotypes. We discuss the possible pathophysiology in view of PTEN function.
- Subjects :
- biology
business.industry
Macrocephaly
medicine.disease_cause
03 medical and health sciences
0302 clinical medicine
Pediatrics, Perinatology and Child Health
medicine
biology.protein
Cancer research
PTEN
Tensin
030212 general & internal medicine
Neurology (clinical)
medicine.symptom
Carcinogenesis
business
Papilledema
Acetazolamide
030217 neurology & neurosurgery
PI3K/AKT/mTOR pathway
medicine.drug
Intracranial pressure
Subjects
Details
- ISSN :
- 17088283 and 08830738
- Volume :
- 34
- Database :
- OpenAIRE
- Journal :
- Journal of Child Neurology
- Accession number :
- edsair.doi...........71bc4ecddf26396be9e499f7bc307973