Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: Report of two cases

@article{Bastos2008ProteusSA,
  title={Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: Report of two cases},
  author={H Bastos and Paula Santos da Silva and Marco Ant{\^o}nio Veloso de Albuquerque and Adriana Marques de Mattos and Rudimar dos Santos Riesgo and Lygia Ohlweiler and Maria Isabel Bragatti Winckler and Jos{\'e} Augusto Bragatti and Rodrigo Dias Duarte and Denise Isabel Zandon{\'a}},
  journal={Seizure},
  year={2008},
  volume={17},
  pages={378-382}
}
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Proteus Syndrome with Neurological Manifestations: A Rare Presentation
TLDR
A 7-year-old boy who presented with seizures and overgrowth of one-half of the body is presented, and early detection of association of epilepsy and hemimegalencephaly with PS can prevent/minimize the neurological complications, disability, morbidity, and mortality.
Hemispherectomy Procedure in Proteus Syndrome
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A 1-month-old male baby referred to Pediatric Neurology Clinic Soetomo Hospital, Surabaya, Indonesia in 2014 presented recurrent seizures since birth with asymmetric dysmorphic face with the right side larger than the left, subcutaneous mass and linear nevi, and the seizure then was resolved after hemispherectomy procedure.
Hemimegalencephaly: Report of a Rare Case
TLDR
Investigators done a study on animal and concluded the role of AKT3 gene in controlling brain size and investigator suggests thatAKT3 activity forcefully modulates brain size in humans.
Proteus Syndrome in Intensive Care Unit: Case Report and Review of the Literature
TLDR
A 16 years old boy who admitted to Intensive Care Unit (ICU) due to the arteriovenous malformation is reported, an extremely rare condition characterized by macrodactyly, vertebral abnormalities, asymmetric limb overgrowth and length discrepancy.
Radiologic Features of Proteus Syndrome: A Case Report Proteus 증후군의 영상의학적 소견: 증례 보고
TLDR
The purpose of this report is to familiarize the reader with multiple clinical and radiologic manifestations of Proteus syndrome including skeletal, soft-tissue and visceral anomalies as well as tumors.
[Cortical dysgenesis with epileptic syndromes and symptomatic epilepsy in children].
  • O. Milovanova
  • Medicine, Psychology
    Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
  • 2015
TLDR
A role of current MRI-regimes in the diagnosis, the management of patients and prognosis of the course of CD are highlighted and a spectrum of clinical symptoms of CD with epileptic seizures is discussed in details.
Neurological manifestations of Proteus syndrome – review of the literature.
TLDR
The neurological manifestations of Proteus syndrome are frequent and important hallmark of the disease, and the awareness of them among neurologists may increase efficacy of the syndrome management.
Congenital infiltrating lipomatosis of the face: recognition and pathogenesis.
TLDR
In the case of CILF, the source of this selective and focal lesion in the cheek has been ascribed to the buccal fat pad, initially described as a distinct anatomic structure of the face by Heister in 17275 and further delineated histologically as adipose tissue by Bichat in 1801.
Ohtahara syndrome with emphasis on recent genetic discovery
PROTEUS SYNDROME: NEED FOR PATIENT CENTRIC DRUG DELIVERY
TLDR
The identification and recognition of specific characteristics of the disease, pathophysiology, symptoms, diagnosis, treatment and necessity of advanced diagnosis, effective generalized and personalized therapy as well as the requirement of new drugs for the management of Proteus syndrome are concentrated on.
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References

SHOWING 1-10 OF 40 REFERENCES
The radiological features of hemimegalencephaly including three cases associated with proteus syndrome.
TLDR
There was a high incidence of other brain anomalies, including hypoplasia of the corpus callosum and crus cerebri, grey and white matter calcification and cortical migration/organisational disorders, in children with hemimegalencephaly.
The Proteus syndrome: CNS manifestations.
TLDR
A case in which severe, evolving CNS abnormalities were also exhibited, and dural sinus thrombosis developed, is presented in which Proteus syndrome should be considered in the differential diagnosis.
Proteus syndrome: a newly recognized hamartomatous syndrome with significant craniofacial dysmorphology.
TLDR
Proteus syndrome, a new disorder describing multiple hamartomas distinct from neurofibromatosis and Klippel-Trenaunay-Weber syndrome, is presented and discussed along with a review of the pertinent literature.
Epileptic Negative Myoclonus in a Newborn with Hemimegalencephaly
TLDR
The case of a male newborn with Ohtahara syndrome and right hemimegalencephaly who presented epileptic negative myoclonus in the first days of life is reported.
Transmission of Proteus syndrome from father to son?
TLDR
A male infant with cranial hemi-hypertrophy, a lymphangioma, a lipoma, and epidermal naevi is presented and it is proposed that Proteus syndrome has been transmitted from father to son.
Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.
TLDR
The manifestations of 3 disorders associated with type I (classical) lissencephaly are discussed, including the Miller-Dieker syndrome with or without deficiency of 17p13, Norman-Roberts syndrome, and isolated lissENCEphaly sequence.
Proteus syndrome: An update
  • M. Cohen
  • Medicine
    American journal of medical genetics. Part C, Seminars in medical genetics
  • 2005
TLDR
Diagnostic criteria are emphasized because misdiagnosis of Proteus syndrome is common, and Somatic mosaicism, lethal in the nonmosaic state, is the best working hypothesis.
Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.
TLDR
This is a review of recommendations for diagnostic criteria, differential diagnosis, and guidelines for the evaluation of patients on Proteus syndrome held in March 1998 at the National Institutes of Health.
[Proteus syndrome. 8 cases].
TLDR
The experience in management of Proteus syndrome abnormalities and the benefits of new techniques in imaging and interventional vascular radiology are reported.
Syndromes with lissencephaly.
TLDR
In his detailed analysis in 1984/85, Dobyns categorised lissencephaly into different pathological types, assigned these to previously described cases or syndromes, and discussed possible genetic mechanisms.
...
...