Familial Pseudotumor cerebri in Male Heterozygous Twins

Torlai, F; Galassi, Giuliana; Debbia, Antonella; Crisi, Girolamo; Peduzzi, Marco

doi:10.1159/000116389

Cited by 16 publications

(2 citation statements)

References 9 publications

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“…We performed an electronic search in the MEDLINE for all papers on FIIH published in English up to now. A total of 82 patients were identified from 39 pedigrees with a clinical diagnosis of FIH, including 68 females and 14 males (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14). There was a significant female preponderance.…”

Section: Discussionmentioning

confidence: 99%

Familial Idiopathic Intracranial Hypertension in Two Non-obese Chinese Sisters

Qiao

Wei

2020

Front. Neurol.

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Background: Familial idiopathic intracranial hypertension (FIIH) is a rare condition, the etiology of which is unclear.Aims: To describe two non-obese Chinese sisters who met the criteria of FIIH and to analyze the clinical features and prognosis of FIIH.Methods: The clinical course, treatment, and prognosis of these two patients were analyzed retrospectively. Meanwhile, all the literature of familial IIH (FIIH) was reviewed.Results: These two sisters presented with headaches and visual impairment in their mid-thirties. Magnetic resonance imaging (MRI) of the brain was unremarkable except for partial empty sella. No comorbidities or defined causes were detected. Headaches were partially relieved by dehydrated medicine, whereas the visual impairment persisted.Conclusion: In cases where patients present with headaches, empty sella are found on an MRI, and there is visual impairment with or without papilla edema, intracranial hypertension should be excluded. Furthermore, we should pay more attention to the relatives of those patients with increased intracranial hypertension.

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Section: Discussionmentioning

confidence: 99%

Familial Idiopathic Intracranial Hypertension in Two Non-obese Chinese Sisters

Qiao

Wei

2020

Front. Neurol.

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“…27 Torlai reported heterozygous twin brothers who developed symptoms of idiopathic intracranial hypertension within a few months although living in separate cities. 28 Various combinations including homozygous female twins, 29 heterozygous female twins, 30 siblings, 14,27,31 mother-daughter pairs, 17,27 mother-son pairs, 32 and cousins 27 have been described. Many different theories including autosomal dominant, autosomal recessive, and multifactorial inheritance have been proposed but the true genetic link is yet to be found.…”

Section: Discussionmentioning

confidence: 99%

Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum

et al. 2019

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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.

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