The Twenty-First Reported Patient with Complete Remission of the Core Autistic Features: A Child with a Previously Unrecognized Autism–Craniofacial Dysmorphism Syndrome

Abstract

Background: Autism spectrum disorder is a heterogeneous neurodevelopmental disorder characterized by impaired social communication and restricted or repetitive behaviors. Although current management focuses primarily on behavioral, educational, and pharmacological interventions to alleviate associated symptoms, no universally accepted curative therapy exists. We previously reported substantial improvement and complete remission of the principal autistic features following individualized treatment regimens centered on intramuscular cerebrolysin. We report a child with syndromic atypical autism associated with distinctive craniofacial dysmorphism who demonstrated complete remission of the two principal diagnostic features of autism after prolonged individualized treatment. Objectives: This study presents the 21st global case of autism in which the two major diagnostic features (poor social interaction and communication) were cured through an individualized treatment regimen including intramuscular cerebrolysin as the main curative agent. Patients and Methods: We have previously reported a 6-year-old boy who presented with global developmental delay and syndromic atypical autism characterized by severe impairment of social interaction, poor responsiveness to his name, reduced eye contact, stereotypic hand flapping, delayed speech and language development, and marked deficits in adaptive functioning. Physical examination revealed multiple craniofacial dysmorphic features, including low-set posteriorly rotated ears, mild hypertelorism, down-slanting palpebral fissures, a broad nasal bridge with a bulbous nasal tip, flattened malar regions, mild retrognathia, a short philtrum, a thin upper lip, and a short neck, suggesting an unrecognized syndromic disorder. The patient was treated with an individualized therapeutic regimen based on our previously published protocol, using intramuscular cerebrolysin as the principal therapeutic agent in combination with selected adjunctive medications. Results: Progressive clinical improvement was observed throughout treatment. After the initial month, the patient demonstrated improved eye contact and reduced hyperactivity. The therapeutic regimen was subsequently adjusted according to the clinical response. After 10 months of treatment, the patient exhibited complete remission of the two principal diagnostic features of autism, becoming consistently responsive to his name and establishing normal eye contact. However, significant cognitive impairment and behavioral abnormalities persisted, necessitating continuation of treatment and rehabilitation. During the 11th month, adjunctive omega-3 supplementation and N-acetylcysteine were incorporated based on published evidence. Conclusion: This case represents the 21st documented patient in whom complete remission of the principal autistic features was achieved following an individualized cerebrolysin-based therapeutic regimen. The findings add to our previously