West syndrome: the importance of early diagnosis

Case presentation: Term newborn, appropriate for gestational age, female, normal neonatal screenings, vaginal birth, Apgar ⅞. Diagnosed with congenital syphilis, pulmonary hypertension, convulsive syndrome and altered thyroid-stimulating hormone by maternal levothyroxine use during pregnancy. At maternity, infant presented with frequent seizures, receiving levetiracetam and phenobarbital, in addition to crystalline penicillin. Magnetic resonance image showed diffuse signs of severe intracranial multicystic encephalomalacence, with significant cortex loss. Received discharged after 36 days with levetiracetam and persistence of epileptic seizures. Was referred to a neuropediatrician, but without follow-up. It evolved at 4 months of life, requiring hospitalization, presenting no neuropsychomotor development, conjugated supraversion of eyes, regular sucking, without fixation of look and support of head, no social smile or palmar grip sign, convulsive episodes as fast spasms and nystagmus that are repeated several times a day. Electroencephalogram (EEG) with abundant epileptic paroxysm of acute waves and multifocal projection spicules, suggestive of hipsarrhythmia. Diagnosed as West Syndrome, he received vigabatrin, valproic acid, associated with adrenocorticotrophic hormone, with fewer daily seizures.

Discussion: West syndrome is an epileptic encephalopathy, with predominant incidence in the first year of life, characterized by clinical trial of infantile spasms, delayed neuropsychomotor development and EEG with hipsarrhythmia pattern. Males are more affected. Infantile spasms are often confused with primary reflexes or scares, not being interpreted as an alarm signal for investigation. It usually has an unfavorable prognosis, with frequent stagnation or regression of neuropsychomotor and cognitive development. The importance of early diagnosis is to preserve maximum neuropsychomotor development. In this case, lack of follow-up with neuropediatricians and rapid diagnosis culminated in irreversible significant neurological sequelae, reinforcing poor prognosis and faster diagnosis.

Final comments: West syndrome has, mostly, a reserved prognosis, with severe intellectual and motor loss. Raising awareness and educating health professionals about suspicion signs, diagnostic and therapeutic agility is the best way to reduce neurological loss and ensure quality of life for patients and family members. And treatment with a multidisciplinary team may decrease possible body deformities allowing global rehabilitation.

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
18 September 2023