Early infantile developmental epileptic encephalopathy

Akilandeswari R^1*, Malathi. M², Sonya Mercy Anbu³, Ruby Ravichandran⁴

¹Staff Nurse, ER, Maa Kauvery Hospital, Trichy, Tamil Nadu

²Incharge, ER, Maa Kauvery Hospital, Trichy, Tamil Nadu

³Assistant Nursing Superintendent, Maa Kauvery Hospital, Trichy, Tamil Nadu

⁴Senior Deputy Nursing Superintendent, Maa Kauvery Hospital, Trichy, Tamil Nadu

Abstract

Early infantile developmental and epileptic encephalopathy (EIDEE) is a rare and severe neurological disorder that begins in early infancy. It is characterized by early-onset seizures, abnormal EEG patterns, and developmental impairment. The disorder may arise from genetic mutations, structural brain abnormalities, metabolic causes, or unknown etiologies. Mutations involving genes such as syntax in-binding protein1 (STXBP1), potassium voltage-gated channel subfamily Q member 2 (KCNQ2), and cyclic dependent kinase like -5 (CDKL5) commonly associated with this condition. Early diagnosis and management are important to improve outcomes in affected infants.

Key words: Early infantile developmental and epileptic encephalopathy (EIDEE); Syntax in-binding protein1 (STXBP1); Cyclic dependent kinase like -5 (CDKL5)

Case presentation

A three-month-old female infant with known colpocephaly, agenesis of the corpus collasum and epilepsy on multiple antiepileptic medications presented with decreased feeding for five days, non-productive cough and rhinorrhea for five days, fast breathing for two days, and low-grade fever for one day. The infant had been receiving vigabatrin and clonazepam before admission and developed excessive sleepiness without spontaneous eye opening though limb movements were present.

On arrival she was irritable with an audible stridor and sub costal retractions but hemodynamically stable. Neurological examination showed reduced GCS, brisk deep tendon reflexes, bilateral flexor planter responses and reactive pupils. She also had microcephaly and multiple spots of congenital dermal melanocytosis. Investigation revealed lymphocytic leukocytosis and elevated C reactive protein, while urine analysis was normal. Lung point of care ultrasound showed right upper and lower lobe B- lines suggestive of consolidation.

She was managed with IV fluids, Levetiracetam, Topiramate, Ceftriaxone Oseltamivir, nebulization and supportive care. After developing multiple seizure episodes, vigabatrin was reintroduced leading to reduce seizure frequency. EEG suggested epileptic encephalopathy. The child subsequently improved clinically, tolerated oral feeds, and was discharged in stable condition with follow up advice.

Sign and symptoms

Decreased feeding.
Nonproductive cough.
Fast breathing and noisy breathing.
Excessive sleepiness.
Low grade fever.

Systemic examination

CVS: Normal, No murmur.
RS: Child was Tachypnea, conducted sounds were heard bilaterally, there was Subcostal retraction.
P/A: Soft, Bowel sounds present, Liver was palpated 2cm below right costal margin, No distension, No splenomegaly.
CNS:
- GCS: E₁V_CM_6,Bilateral pupils 2mm equally reactive to light.
- Tone: Normal in all four limbs.
- Power: >3/5 in all limbs.
- DTR: 3 (+).
- Bilateral plantar: Flexor.
- No focal neurological deficit.
- Weight of the baby: 5kg.

Past history

H/o seizure started at 2month of age admitted for 2 days, treated with multiple anti-seizure medications. Developmental regression after 2.5months of age left eye ptosis since birth .

Developmental History

The child was late preterm, delivered by LSCS with a birth weight of 2.7 kg, cried immediately after birth and required no NICU stay. She had attained partial neck holding, palmar grasp reflux, cooing, and social smile or eye contact at present, suggesting global developmental regression.

Investigation

S. No	Investigations	Patient value	Normal value
1.	Hemoglobin	12 g/dl	11.1 -14.1
2.	Packed Cell Volume	36.9%	31 -43
3.	Total RBC count	4.26	4.5-6.0
4.	Total WBC count	17790	4000-10000
5.	Platelet count	453000	140000-400000
6.	C reactive protein	78.018mg/dl	00-6.0
7.	Sodium	143 mmol/l	136-145
8.	chloride	118mmol/l	98-107
9.	Bicarbonate	17.9mmol/l	22-30
10.	Urea	14	10 - 36
11.	Creatinine	0.36	0.2-0.5

MRI brain – colpocephaly with complete corpus callosum agenesis.
EEG – Major discontinuous background with burst attenuation in sleep and frontal predominant multifocal epileptiform activity in awake / Ictal event – left frontal onset on generalization.
USG abdomen – normal.

Diagnosis

Early infantile developmental epileptic encephalopathy.
Complete corpus callosum agenesis.

Treatment: IV Fluids administration.

Medication

Inj. Levipil
Inj. Ceftriaxone
Neb.3% Nacl
Neb. Glycopyrolate
Syp. Fluvir
Syp. Cefpodoxime
Tab.Levipil
Tab.Glycopyrolate
Tab.Topiramate
Nasoclear drops
Vigabatrin Sachet

Nursing management

Monitored level of consciousness, muscle tone, and responsiveness.
Observed for abnormal movements, eye deviation, or subtle seizure activity.
Recorded seizure frequency, duration, and characteristics accurately.
Ensured padded side rails to prevent injury during seizures.
Positioned the infant in a side-lying position during seizures to maintain airway patency.
Maintained clear airway and monitored respiratory pattern.
Observed for apnea or cyanosis.
Administered prescribed antiepileptic medications as ordered.
Monitored for therapeutic response and possible side effects.
Ensured timely medication to prevent breakthrough seizures.
Monitored temperature, pulse, respiration, and oxygen saturation regularly.
Assessed feeding ability and tolerance.
Provided small, frequent feeds or tube feeding if necessary.
Monitored weight and hydration status.
Provided a low-stimulation environment to reduce seizure triggers.
Encouraged appropriate sensory stimulation according to the infant’s tolerance.
Maintained strict hand hygiene and aseptic techniques.
Monitored for signs of infection.
Educated parents how to identify seizure activity.
Educated parents about medication adherence and follow-up visits.
Provided emotional support and guidance for long-term care.
Health education is given on home seizure management.
Advised regular neurological and developmental follow-up.

Outcome

With timely medical management, continuous monitoring and comprehensive nursing care, child seizure activity was controlled, and the patient was discharged in a clinically stable condition with advice for regular neurological and developmental follow up. During discharge child was stable, afebrile, adequately hydrated, with good urine output.

Advice on discharge

S. No	Drug name	Generic name /strength	Frequency			Route of admin
			M	A	N
1	Tab. Topiramate	Topiramate 25mg	1/2	0	1/2	Oral
2	Vigabatrin sachet	Vigabatrin	1/2	0	1/2	Oral
3	Tab. Glycopyrrolate	Glycopyrrolate 1mg	1/4	0	1/4	Oral
4	Tab. Levipil	Levetiracetam 250mg	1/2	0	1/2	Oral
5	Syp. Cepodem	Cefpodoxime Proxetil 18 g	2.5	0	2.5ml	Oral

Conclusion

Early infantile developmental epileptic encephalopathy (EIDEE) is a severe neurological disorder that begins in early infancy and is characterized by frequent seizures and significant developmental impairment. The condition is often associated with genetic mutations, structural brain abnormalities, or metabolic disorders. Early disorders using clinical evaluation, EEG, neuroimaging, and genetic testing is essential for proper management. Although treatment can help control seizures and support development, many cases remain challenging, highlighting the need for continued research and improved therapeutic strategies.

Early infantile developmental epileptic encephalopathy

Early infantile developmental epileptic encephalopathy

Akilandeswari R1*, Malathi. M2, Sonya Mercy Anbu3, Ruby Ravichandran4

Nightingale Journals

Akilandeswari R^1*, Malathi. M², Sonya Mercy Anbu³, Ruby Ravichandran⁴