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 Table of Contents  
Year : 2022  |  Volume : 11  |  Issue : 4  |  Page : 222-223

Unusual cause of seizure in preterm infant

1 Department of Pediatric, King Abdulaziz Medical City-WR, Ministry of National Guard; King Abdullah International Medical Research Centre; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia
2 College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia
3 Department of Neurology, King Abdullah Medical Complex, Jeddah, Saudi Arabia

Date of Submission08-May-2022
Date of Decision27-Jun-2022
Date of Acceptance28-Jun-2022
Date of Web Publication04-Oct-2022

Correspondence Address:
Jubara S Alallah
Department of Pediatric, Neonatology Section, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, National Guard health Affair, P. O. Box: 9515, Jeddah 2123
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcn.jcn_49_22

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Neonatal seizures are prevalent in premature babies and can be the earliest sign of neurological abnormalities. Seizures in newborns are clinically significant and further inquiry leading to a solid identification of the underlying disease can aid with prognosis and treatment options. We report a male neonate born at 27 + 6 weeks of gestation. An intractable seizure developed at 9 days of age. The diagnosis is confirmed based on genetic testing.

Keywords: Genetic, preterm infant, seizures

How to cite this article:
Alallah JS, Yonbawi FR, Qari YH, Abu Alnasr AA, Kandil HJ. Unusual cause of seizure in preterm infant. J Clin Neonatol 2022;11:222-3

How to cite this URL:
Alallah JS, Yonbawi FR, Qari YH, Abu Alnasr AA, Kandil HJ. Unusual cause of seizure in preterm infant. J Clin Neonatol [serial online] 2022 [cited 2022 Dec 9];11:222-3. Available from: https://www.jcnonweb.com/text.asp?2022/11/4/222/357815

  Introduction Top

Convulsions that occur during the neonatal period, which ranges from birth until the end of 4 weeks of age, are called neonatal seizures.[1] An acutely transient brain dysfunction can lead to the progression of isolated seizures.[2] Numerous perinatal factors have contributed to these seizures.

In contrast, neonatal epilepsy is the occurrence of recurrent spontaneous seizures, which is subdivided into four main categories: structural brain malformations, inborn errors of metabolism, syndromic and nonsyndromic, and single gene. The presence of epilepsy in neonates necessitates the need for genetic consultation and genetic testing, as many of them are typically found to have an underlying genetic etiology. A study that was held in 2017 discovered that 34 (59%) out of 58 newborns, who underwent genetic testing, had causative genetic etiology.[3]

The pathophysiology through which structural brain malformations can lead to neonatal epilepsy involves focal or diffuse irregularities in the brain size, formation, and neuronal migration.[4] Inborn errors of metabolism, one of the rare causes of seizures in neonates, can induce seizures through several means.[5] Syndromes with unique dysmorphic features such as trisomy 13, 18, or 21; 22q11.2 deletion syndrome; and Wolf–Hirschhorn syndrome can be associated with neonatal epilepsy.[6]

In this article, we report a case of a preterm male born with an intractable seizure at 9 days of life, and we investigated the underlying etiology; the diagnosis was confirmed based on genetic testing.

  Case Report Top

A preterm male was born at 27 weeks + 6 days of gestation through normal spontaneous vaginal delivery to a mother with gestational diabetes. The mother was controlled on diet gravida 3, para 2 + 0, with no previous congenital anomalies.

At 1 and 5 min, the infant's Apgar scores are 6 and 8, respectively. After initial stabilization, the infant is intubated and given one dose of surfactant replacement treatment due to respiratory distress. He is then moved to the neonatal intensive care unit. The infant is born with a birth weight of 1130 g, a head circumference of 25 cm, and a length of 35 cm; all were within normal centile for gestational age. A partial sepsis evaluation is performed, and antibiotic treatment is initiated.

The infant is maintained initially on mechanical ventilation on high sitting. He was given a second dose of surfactant therapy at 6 h of age. Then, he was shifted to a high-frequency mode due to hypoxic respiratory failure required initiation of inhaled nitric oxide and upgraded antibiotics coverage. On day 5, an ultrasound was done, with no evidence of intraventricular hemorrhage. His blood culture was negative, and the infant was extubated on day 8 after birth due to improvements and received continuous positive airway pressure.

On day 9, the infant started lip-smacking with desaturation, for which he received a loading of phenobarbitone for possible seizures. The episodes progressed to cyclic movements of limbs with a jerky movement of the foot. Despite phenobarbital administration, his attacks persisted, and he needed another load of phenobarbitone, lorazepam, midazolam infusion, levetiracetam, and pyridoxine, but his seizures did not abort. The infant underwent reintubation due to recurrent seizures and apnea. An electroencephalogram (EEG) showed active bilateral-dependent and independent epileptic activity with an occasional generalization maximum over the left hemisphere with background suppression. The reached diagnosis of the patient is neonatal epilepsy due to nonsyndromic, single gene mutation (KCNQ2).

The seizure was controlled, and the patient was planned to be weaned off phenobarbitone and levetiracetam was adjusted. Pyridoxine was advised to be continued with the previous medications. The patient was discharged at age of 96 days with an improved condition. At 2 years of age, the condition was confirmed the moderate-to-severe developmental delay.

  Discussion Top

Neonatal-onset epilepsy syndromes are genetic diseases that are caused by mutations of genes involved in ion channel regulation, synaptic function, or abnormal cell signaling. It can occur from mutation of different genes such as KCNT1, KCNQ2, CACNA1A, or SCN2A. Our case most likely is an early infantile epileptic encephalopathy as the presentation with frequently intractable seizures and his EEG is severely abnormal. Genetic testing of whole-exome sequencing analysis revealed the patient to be heterozygous for the KCNQ2 variant c.2399G>A p. (Arg800His). KCNQ2 mutations are rare. Almost 200 families with KCNQ2-SLFNE and 200 individuals with KCNQ2-NEO-DEE were prescribed in the literature.

Neonatal-onset epilepsy syndromes may benefit from targeted therapy (channel-specific). An example is retigabine, which activates potassium channels, reduces neuronal excitability, and decreases seizure activity for patients' specific mutations in KCNQ2.[4],[5],[6]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Davis AS, Hintz SR, Van Meurs KP, Li L, Das A, Stoll BJ, et al. Seizures in extremely low birth weight infants are associated with adverse outcome. J Pediatr 2010;157:720-5.e1-2.  Back to cited text no. 1
McBride MC, Laroia N, Guillet R. Electrographic seizures in neonates correlate with poor neurodevelopmental outcome. Neurology 2000;55:506-13.  Back to cited text no. 2
Pisani F, Barilli AL, Sisti L, Bevilacqua G, Seri S. Preterm infants with video-EEG confirmed seizures: Outcome at 30 months of age. Brain Dev 2008;30:20-30.  Back to cited text no. 3
Milh M, Cacciagli P, Ravix C, Badens C, Lépine A, Villeneuve N, et al. Severe neonatal seizures: From molecular diagnosis to precision therapy? Rev Neurol (Paris) 2016;172:171-3.  Back to cited text no. 4
Mulkey SB, Ben-Zeev B, Nicolai J, Carroll JL, Grønborg S, Jiang YH, et al. Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. Epilepsia 2017;58:436-45.  Back to cited text no. 5
Kaur S, Pappas K. Genetic etiologies of neonatal seizures. Neoreviews 2020;21:e663-72.  Back to cited text no. 6


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