West syndrome in children (clinical case)

Summary

West syndrome is a constellation of symptoms characterized by epileptic/infantile spasms, abnormal brain wave patterns called hypsarrhythmia and intellectual disability. The spasms that occur may range from violent jackknife or “salaam” movements where the whole body bends in half, or they may be no more than a mild twitching of the shoulder or eye changes. These spasms usually begin in the early months after birth and can sometimes be helped with medication [1]. The article presents a clinical case of successful treatment child with West Syndrome who was admitted to the Regional Children's Hospital in Shymkent at the age of 11 months. Complaints at admission: seizures in the form of raising the upper limbs up and rolling the eyes up, serial, more often during wakefulness, after waking up, lag in psychoverbal development.

Key words: epilepsy, children, West syndrome, seizure, cognitive functions.

Relevance. West syndrome is a rare neurological syndrome that can affect males and females. The X-linked form of West syndrome affects males more often than females. West syndrome has been estimated to affect .31 per 1000 live births in the United States. West syndrome accounts for approximately 30 percent of all cases of epilepsy affecting infants.[2]

Currently, the International League Against Epilepsy (ILAE) has revised the terminology and epileptic spasms is now preferentially used to encompass the different age groups of onset. There are many different causes of epileptic spasms and if a specific cause can be identified, a diagnosis of symptomatic epileptic spasms can be made. If a cause cannot be determined, a diagnosis of cryptogenic epileptic spasms is made. A specific cause for West syndrome can be identified in approximately 70-75% of those affected. [3,4] Any disorder that can lead to brain damage can be an underlying cause of West syndrome including trauma, brain malformations such as hemimegalencephaly or cortical dysplasia, infections, chromosomal abnormalities such as Down syndrome, neurocutaneous disorders such as tuberous sclerosis complex (TSC), Sturge Weber syndrome, incontinentia pigmenti, different metabolic/genetic diseases such as pyridoxine deficiency, non-ketotic hyperglycemia, maple syrup urine disorder, phenylketonuria, mitochondrial encephalopathies and biotinidase deficiency, Otahara’s syndrome, and an abnormality (mutation) in the ARX gene or CDKL5 gene located on the X chromosome.[5]

Clinical Case: According to the mother, the attacks described above, of a serial nature, were noticed at the age of 2 months. Consulted by a neurologist. The child was hospitalized, according to the mother, the hormone Prednisolone was added to the treatment, after discharge it was taken per os, due to the fact that the child did not drink the drug, the protein was canceled on its own. Examined: EEG, NSG. Diagnosed with Epilepsy. West syndrome. According to the quota in the CF UMC "NNTsMD" from 26.07. on 02.08.21 received inpatient treatment. At the time of admission, the child takes Tab. Sabril 500 mg. at a dose of 500 mg / day, during therapy, the mother notes the preservation of rolling her eyes up without the participation of hands, non-serial, episodes can be single. This hospitalization is planned in the ODB for the course of treatment and correction of AED.

Anamnesis of vitae: Child from 6th pregnancy, 5th birth. The pregnancy proceeded uneventfully. Birth weight - 3940g, height - 55cm. Cried immediately, applied to the chest on the 1st day. Discharged on the 3rd day. Consists on the D-registration at the neuropathologist with the diagnosis of Epilepsy. Past diseases: SARS. Heredity without features. Injuries, operations denies. Vaccination in the maternity hospital, then medical withdrawal. Allergological history: not burdened

Objective status: Weight - 12 kg, Height - 82 cm, t - 36.60 C, respiratory rate - 20 per minute, heart rate - 100 beats per minute.

The child's condition is moderately severe due to the underlying disease. In consciousness, he reacts calmly to examination, there is eye contact, he reacts, he responds to the name, he reacts to addressed speech, he takes toys in his hands, plays, he is interested in children, there is no pointing gesture, speech - no words, pronounces syllables. Correctly shaped head. FMN- pupils D=S, palpebral fissures D=S, live photoreaction, symmetrical face, tongue in the midline. Muscle tone in the upper and lower extremities was normal. Tendon reflexes are evoked and symmetrical. The child sits and walks independently. The skin and visible mucous membranes are clean, of normal color. Peripheral lymph nodes are not enlarged. Nasal breathing is not difficult. In the lungs, breathing is carried out in all fields. Heart sounds are rhythmic. The abdomen is soft, palpation is available. Stool and diuresis without features.

Laboratory and diagnostic studies

09.12.2021 12:08 Scraping on i/ch - pinworm eggs - absent;

OAM on November 30, 2021 in primary health care, the relative density (specific gravity) of urine is 0; leukocytes in the urine - 2.3 in p / sp; protein in urine - 0 g/l; transparency of urine - transparent; color of urine - straw yellow

CBC pi PHC dated November 30, 2021: heme 119 g/l, lei -5.1x10*9, thrombus. -358 x10*9, erythr. -3.3x10*12, ESR 10 mm/h

BHA in primary health care from November 30, 2021: ALaT - 6.5 IU/l, ASAT - 22.6 IU/l, urea - 4 mmol/l, creatinine - 46.15 mmol/l. protein 70%, glucose 4.6

Cal on i/g. dated November 30, 2021 in PHC: negative

Blood for HIV dated 11/30/2021: negative for PHC

PCR for COVID-19 dated 08.12.21. - neg

Instrumental Research. Ultrasound of the abdominal organs in PHC on July 27, 2021: No structural pathologies were detected at the time of the study.

VEEG monitoring in primary health care from 29.04.21 Zach: B e.a g/m with a delay in the formation of cortical rhythms. The main activity is slowed down. During sleep, persistent regional epiactivity is registered in the form of constantly continued high-amplitude spike-slow wave complexes with an amplitude of up to 150-250 microns. In duration up to 1.0-1.5 sec. subsequent deceleration and inhibition from 1.0-1.5 to 3.0-4.0 sec. The index of epiactivity during sleep is high up to 90-100%

EEG during primary health care from 07/28/2021 - Conclusion: In wakefulness, bioelectrical activity is preserved. The basic rhythm of wakefulness is formed by age. During sleep, a pathological type of EEG was formed. Bioelectric activity is represented by disorganized slow waves. The structure of sleep is broken. Sleep spindles are recorded in short rare fragments. Against this background, an ESES pattern is recorded in sleep - with a high index of constant periodic regional epileptiform activity, with secondary bilateral synchronization, in the form of peak / acute-slow wave complexes in the frontal, central and anterior temporal leads. As sleep deepens, patches of flash suppression are recorded.

VEEG monitoring in primary health care from 05.12.21 Conclusion: B e.a g/m with a delay in the formation of cortical rhythms. The main activity is slowed down. up to 700-800 µV. In a duration of up to 1.0-1.5 sec, followed by slowing down and inhibition from 1.0-2.5 to 3.0-4.0 sec, flash suppression of hypsarrhythmia with phase reversal F3F7F4F8 and independently single complexes spike slow wave in the left parietal-temporal-occipital lead and in the right central-temporal lead (C4T4). The index of epiactivity during sleep is high up to 90-100%.

In comparison with the EEGVM from 29.04.21, epiactivity remains at a high level in dynamics. A picture of hypsarrhythmia is recorded, seizures are recorded after awakening.

MRI of the brain in primary health care from 01/07/2021: MRI signs of minimal post-hypoxic changes in the white matter of the cerebral hemispheres. Conclusion diagnosis (final diagnosis): (G40.4). Other species generalized epilepsy and epileptic syndromes. West syndrome

Expert advice

Consultation: Speech therapist (09.12.2021 10:00) Conclusion: ZRR.

Consultation: Psychologist (09.12.2021 09:00) Conclusion: Delayed speech development.

PHC ophthalmologist consultation dated 27/07/2021 - H35.0 - Background retinopathy and retinal vascular changes

Conducted treatment Diet: 15

Prescribed medicines: [6]

Sabril 500mg (500mg Tablets) (750mg Oral) (2 t/d for 7 d) Vidrop (15 ml, Drops, 2800 IU/ml) (0.5 ml Oral) (1 t/d. 6 d.) Cevicap (10ml, Drops, 100mg/ml) (1ml Oral) (2 t/d. 7 d.) Cartan (10 ml, Solution, 1 g/10 ml) (2 ml Oral) (2 t / d. 7 d.) Metipred (4 mg, Tablets) (8 mg Orally) (2t/d. 6 d.)

Condition at discharge: Weight - 12 kg, Height -82 cm. Temperature-36.6 C, RR- 20 per min. Heart rate - 100 beats per minute.

The child's condition in dynamics with improvement, seizures decreased. Rarely observed after awakening. In consciousness, he reacts calmly to examination, there is eye contact, he reacts, he responds to the name, he reacts to addressed speech, he takes toys in his hands, plays, he is interested in children, there is no pointing gesture, speech - no words, pronounces syllables. Correctly shaped head. FMN- pupils D=S, palpebral fissures D=S, live photoreaction, symmetrical face, tongue in the midline. Muscle tone in the upper and lower extremities was normal. Tendon reflexes are evoked and symmetrical. The child sits and walks independently. The skin and visible mucous membranes are clean, of normal color. Peripheral lymph nodes are not enlarged. Nasal breathing is not difficult. In the lungs, breathing is carried out in all fields. Heart sounds are rhythmic. The abdomen is soft, palpation is available. Stool and diuresis without features.

Medical recommendations

1. Observation by a neurologist, pediatrician at the place of residence
2. Tab. Sabril 500mg 750mg. (1 tab. + 1/2 tab.) tab x 2 times a day (09:00 min / 21:00 min) (125 mg / kg) - - constantly, long-term, continuously, control every 3-4 months, under the supervision of a neurologist !!!!
3. Tab. Methylprednisolone 16 mg. 8 mg. (1/2 tab.) * 1 time per day, at 9.00 - 2 weeks - complete cancellation!!! Take the drug before lunch, drink milk!
4. Cap. Omez 20 mg. 1 cap. * 1 time per day, 30 minutes before taking Methylprednisolone - cancel together!
5. Vitamin D (Aquadetrim D3 15000ME / Vigantol 20000Me) 3-4 caps. * 1 time per day, in the morning - constantly, continuously!!!
6. Seizure monitoring, keeping a diary, video recording - recording, EEG video monitoring as prescribed by a doctor. When the type of seizures changes - repeated monitoring of seizures, video recording, keeping a diary of seizures, followed by a consultation with a neurologist to correct AEP
7. Video EEG monitoring (2 or more hours) to be repeated after 1 - 2 months, followed by a consultation with a neurologist to adjust the dose of antiepileptic drugs
8. Control of indicators of biochemical analysis of blood ALT, AST, bilirubin, creatinine, glucose electrolytes every 3 months, CBA with platelet count every 3 months, ultrasound of the abdominal organs 1 time in 6 months
9. Avoid taking stimulant drugs (piracetam, encephabol, cortexin, ceraxon, cerebrolysin, actovegin, pantogam)
10. Speech therapy, psychological, defectological correction.

Literature

1. Djuric M, et al. Long-term outcome in children with infantile spasms treated with vigabatrin: a cohort of 180 patients. Epilepsia 2014 Dec; 55 (12): 1918-25.
2. Hussain SA, et al. Treatment of infantile spasms with very high dose prednisolone before high dose adrenocorticotropic hormone. Epilepsia 2014 Jan; 55(1): 103-7.
3. Poulat AL, et al. A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology. Eur J Paediatr Neurol. 2014 Mar; 18 92): 176-82.
4. Auvin S, et al. Diagnosis delay in West syndrome: misdiagnosis and consequences. Eur J Pedatric 2012 Nov; 171(11): 1695-701.
5. Mytinger JR, et al. The current evaluation and treatment of infantile spasms among members of the Child Neurology Society. J Child Neuro 2012 Oct; 28(10): 1289-94.
6. Клинический протокол диагностики и лечения эпилепсии у детей. МЗ РК от 15 апреля 2020 года. Протокол №90.