Neurometabolic Conditions May Coexist with Symptoms of Autism
The patient was born at term to consanguineous parents. He showed signs of global developmental delay in the first few years of life. He did not sit alone until 15 months and walked aged 2 years. He did not have single words until 4 years. Communication s
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Neurometabolic Conditions May Coexist with Symptoms of Autism Susan Byrne and Tammy Hedderly
Background History The patient was born at term to consanguineous parents. He showed signs of global developmental delay in the first few years of life. He did not sit alone until 15 months and walked aged 2 years. He did not have single words until 4 years. Communication skills were limited, and he was described as a quiet boy who preferred his own company. The boy developed obsessional play, repetitive behavior, and echolalia and was formally diagnosed by the community pediatric team with autism spectrum disorder (ASD) aged 5 years. The assessments done included interviews and using standardized tools with an Autism Diagnostic Observation Schedule (ADOS). At 10 years of age, he was referred to the community child and adolescent mental health team, as he developed oppositional behavior that was difficult to manage, and he was noted to have become more quiet and withdrawn. Issues with suddenonset fecal soiling subsequently emerged. There was a short hospital admission for diarrhea in the same period, and intravenous rehydration was required. Viral gastroenteritis was diagnosed. Mildly abnormal liver function tests were documented during this admission but not investigated. At the age of 11 years, he had a single episode of focal posturing considered to have been a possible seizure. MRI and EEG carried out after this episode were reported to be normal.
A 10-year-old boy with a diagnosis of autism spectrum disorder was referred to the community child and adolescent mental health team, with worsening oppositional behavior, which was difficult to manage. S. Byrne, MB, BAO, BCh, PhD, MRCPI, MRCPCH Paediatric Neurology, Evelina Children’s Hospital, St. Thomas’ Hospital, London, UK e-mail: [email protected] T. Hedderly, MBBS, BSc (Hons), FRPCH (*) Evelina London Children’s Hospital and St Thomas’ Hospital, London, UK e-mail: [email protected] © Springer International Publishing Switzerland 2016 J. Priller, H. Rickards (eds.), Neuropsychiatry Case Studies, DOI 10.1007/978-3-319-42190-2_27
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S. Byrne and T. Hedderly
Around this age, his parents had noted a left-sided tremor following antibiotic therapy with penicillin for tonsillitis. The boy then significantly regressed over the next year in his language skills, and he was reported to be clumsy and less steady on his feet. His parents also noted unusual episodes of freezing lasting for up to an hour. He had an increasing frequency of nosebleeds. During this time, his behavior was becoming increasingly oppositional. He was then referred to the neurology department aged 12 years having presented acutely with “being off his legs” with a history of deteriorating gait. Since admission, he had reduction in speech output and abnormal movement with catatonic posturing.
Examination (While in the Hospital) The boy was not dysmorphic. He was mildly icteric and some bruising was noted on his skin. Up-gaze was markedly reduced; however, fundoscopy was normal. He was
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