Dataset Information

Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation: Case report and literature review.

ABSTRACT:

Rationale

Early infantile epileptic encephalopathy (EIEE) 65 was recently shown to be caused by the cytoplasmic FMRP interacting protein 2 (CYFIP2) mutation. To date, only 5 cases have been reported in two articles, and all the outcomes in all cases were poor.

Patient concerns

In this study, we reported an 8-month-old girl with a 1 month-long history of seizures and developmental delay. Over 1 month later, she developed epileptic spasms in clusters with hypsarrhythmia on electroencephalography.

Diagnosis

The patient was diagnosed with EIEE 65 and trio-based whole-exome sequencing revealed a causative de novo CYFIP2 mutation c.260G >T (p.Arg87Leu).

Interventions

The proband was successively treated with multiple antiepileptic drugs, including levetiracetam, phenobarbital, VitB6, topiramate, methylprednisolone, prednisone, valproic acid and vigabatrin.

Outcomes

After resistance to multiple anti-epileptic drugs over 2 months of treatment, she finally achieved seizure-free several days after vigabatrin administration and her developmental delay steadily improved.

Lessons

OUR: case confirmed that CYFIP2 was the pathogenic gene of EIEE 65. We also first demonstrated vigabatrin might be effective for control of seizures and helpful for the improved outcomes of these patients.

SUBMITTER: Zhong M

PROVIDER: S-EPMC7017979 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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Publications

Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation: Case report and literature review.

Zhong Min M Liao Shuang S Li Tingsong T Wu Peng P Wang Yanqin Y Wu Fangrui F Li Xiujuan X Hong Siqi S Yan Lisi L Jiang Li L

Medicine 20191101 44

<h4>Rationale</h4>Early infantile epileptic encephalopathy (EIEE) 65 was recently shown to be caused by the cytoplasmic FMRP interacting protein 2 (CYFIP2) mutation. To date, only 5 cases have been reported in two articles, and all the outcomes in all cases were poor.<h4>Patient concerns</h4>In this study, we reported an 8-month-old girl with a 1 month-long history of seizures and developmental delay. Over 1 month later, she developed epileptic spasms in clusters with hypsarrhythmia on electroen ...[more]

PMID: 31689829

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Project description:BackgroundThe issue concerning neurologic outcome in patients with perinatal Hypoxic-Ischemic Encephalopathy (H.I.E) has inspired many studies which tried to identify adequate prognostic factors. Our work aims to find among neonatal parameters:- factors which help to predict the risk to develop both Cerebral Palsy (CP) and secondary Epilepsy at one year of age in subjects affected by perinatal Hypoxic-Ischemic Encephalopathy,- correlations between the neonatal parameters and the variable severity of above mentioned sequelae.MethodsWe have recruited 32 subjects, whose history and neuroimages suggested a perinatal H.I.E and we have retrospectively analysed clinical-instrumental parameters at birth and at one year of age.ResultsAt one year cut-off, 9 patients developed both secondary epilepsy and CP (28%), whereas the other subjects showed only motor delay (31%), only secondary epilepsy (3%) or only CP (38%). Patients with both the severest sequelae were essentially term infants (only 2/9 were pre-term infants), with normal weight (only 3 LBW) and 7 of them with early pathologic EEG and neuroimages pointing out cortex injuries (typical of term infants). A statistic analysis showed the following correlations: birth weight and global prognosis (chi2 = 14,03; p = 0,04); neonatal clinical pattern and CP's severity (chi2 = 14,03; p = 0,0009); early EEG and CP's severity (chi2 = 4,32; p = 0,04); epileptic onset age and CP and Epilepsy's severity (F = 16,01; p = 0,005).Birth weight represented a predictive factor of early neurological outcome (<1,5 kg birth weight neonates are not at risk of both epilepsy and CP); neonatal clinical pattern and early EEG were correlated with variable severity of CP; an epileptic exordium in the first 6 months led up to a more severe epileptic and paretic outcome.ConclusionFrom a clinical point of view it is of crucial importance to have some parameters which enable to discriminate patients at risk of more severe sequelae from those at risk of moderate severity outcome.

Dataset Information

Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation: Case report and literature review.

Rationale

Patient concerns

Diagnosis

Interventions

Outcomes

Lessons

Publications

Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation: Case report and literature review.

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