LETTERS
Multiple Tics in a Patient With Adams-Oliver Syndrome To the Editor: Adams–Oliver syndrome is a rare genetic condition that was first described by Forrest Adams and C. Peter Oliver in 1945.1 The diagnostic features of Adams–Oliver syndrome are a combination of cranial aplasia cutis congenita and terminal transverse limb defects, with a positive family history for the same developmental abnormalities. Although the molecular basis for this syndrome remains unknown, it has been hypothesized that the primary defect involves abnormal vasculogenesis resulting in both cardiac and vascular anomalies. To date, there are few case reports of Adams–Oliver syndrome in the scientific literature describing clinical variability with rare neurological involvement (developmental delay and mental retardation, microcephaly, epilepsy, and intracranial abnormalities).2 The authors describe the first case of Adams–Oliver syndrome in association with multiple motor and vocal tics.
CASE REPORT Mr. “A.B.” was first referred to the Tourette Syndrome Clinic at the age of 28 years for the assessment and management of his motor and vocal tics. He reported a longstanding history of tic symptoms, dating back to early childhood. The age at tic onset was 6 years, and the first tics to be noticed consisted of head movements. He subsequently developed multiple motor tics mainly affecting his head and neck, including lip biting, mouth opening, smiling, spitting, licking, blowing, head turning, neck stretching, and shoulder shrugging. His motor tic repertoire also included arm and leg movements, plus complex whole body movements, such as jumping, stamping, hopping, and squatting. In terms of phonic tics, he reported grunting, throat clearing, coughing, barking, snorting, sniffing, and humming, plus complex vocalizations including animal sounds. The tics showed a typical waxing and waning course over time. Moreover, A.B.’s tics were characteristically preceded by premonitory urges and could be voluntarily suppressed for a few seconds at the expense of mounting inner tension. These involuntary symptoms were exacerbated by psychological stress and alleviated by physical activity and active concentration. With regard to complex tics and ticrelated symptoms, A.B. reported coprophenomena (including mental coprolalia), paliphenomena, and echolalia. He scored 79% on the Tourette Syndrome Diagnostic Confidence Index3 and 58% on the Yale Global Tic Severity Scale,4 indicating moderate-to-marked tic severity. A.B. fulfilled the current e80
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diagnostic criteria for Tourette’s syndrome. With regard to behavioral comorbidities, there was evidence of specific obsessive-compulsive symptoms, which are considered part of the clinical phenotype of Tourette’s syndrome, including checking, counting (arithmomania), and excessive hand washing.5,6 There was also a history of childhood attention deficit, which had improved to some extent with age, plus anxiety and affective symptoms. DISCUSSION Interestingly, A.B. had been diagnosed with Adams–Oliver syndrome based on the presence of both cranial aplasia cutis congenita and terminal transverse limb defects. His two brothers were both diagnosed with the same genetic condition, and one died at the age of 3 months. In terms of neurodevelopmental problems, dyslexia and oculomotor dyspraxia were noted since an early age, whereas tics prompted a diagnosis of Tourette’s syndrome only in early adulthood. Tourette’s syndrome has been reported in the context of other genetic conditions,7 and tic symptoms are proposed as a possible addendum to the neurodevelopmental spectrum of Adams–Oliver syndrome. REFERENCES 1. Adams FH, Oliver CP: Hereditary deformities in man due to arrested development. J Hered 1945; 36:3–7 2. Snape KM, Ruddy D, Zenker M, et al: The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009; 149A:1860–1881 3. Robertson MM, Banerjee S, Kurlan R, et al: The Tourette Syndrome Diagnostic Confidence Index: Development and validation. Neurology 1999; 53:2108–2112 4. Leckman JF, Riddle MA, Hardin MT, et al: The Yale Global Tic Severity Scale: initial testing of a clinician-rated scale of tic severity. J Am Acad Child Adolesc Psychiatry 1989; 28:566–573 5. Cavanna AE, Rickards HE: The psychopathological spectrum of Gilles de la Tourette syndrome. Neurosci Biobehav Rev 2013; 37:1008–1015 6. Cavanna AE, Seri S: Tourette’s syndrome. BMJ 2013; 347:f4964 7. Katuwawela I, Cavanna AE: Good response to clonidine in tourette syndrome associated with chromosomal translocation involving the IMMP2L gene. J Neuropsychiatry Clin Neurosci 2012; 24:E17 Fairooz Hassiem Andrea E. Cavanna, M.D., Ph.D., F.R.C.P. Dept. of Neuropsychiatry Research Group, Birmingham and Solihull Mental Health NHS Foundation Trust, and University of Birmingham, Birmingham, United Kingdom (FH, AEC); School of Life and Health Sciences, Aston University, Birmingham, United Kingdom (AEC); and University College London and Institute of Neurology, London, United Kingdom (AEC) Correspondence: Andrea E. Cavanna; e-mail: [email protected] J Neuropsychiatry Clin Neurosci 2015; 27:e80; doi: 10.1176/appi.neuropsych. 13120377
J Neuropsychiatry Clin Neurosci 27:1, Winter 2015
Multiple Tics in a Patient With Adams-Oliver Syndrome To the Editor: Adams–Oliver syndrome is a rare genetic condition that was first described by Forrest Adams and C. Peter Oliver in 1945.1 The diagnostic features of Adams–Oliver syndrome are a combination of cranial aplasia cutis congenita and terminal transverse limb defects, with a positive family history for the same developmental abnormalities. Although the molecular basis for this syndrome remains unknown, it has been hypothesized that the primary defect involves abnormal vasculogenesis resulting in both cardiac and vascular anomalies. To date, there are few case reports of Adams–Oliver syndrome in the scientific literature describing clinical variability with rare neurological involvement (developmental delay and mental retardation, microcephaly, epilepsy, and intracranial abnormalities).2 The authors describe the first case of Adams–Oliver syndrome in association with multiple motor and vocal tics.
CASE REPORT Mr. “A.B.” was first referred to the Tourette Syndrome Clinic at the age of 28 years for the assessment and management of his motor and vocal tics. He reported a longstanding history of tic symptoms, dating back to early childhood. The age at tic onset was 6 years, and the first tics to be noticed consisted of head movements. He subsequently developed multiple motor tics mainly affecting his head and neck, including lip biting, mouth opening, smiling, spitting, licking, blowing, head turning, neck stretching, and shoulder shrugging. His motor tic repertoire also included arm and leg movements, plus complex whole body movements, such as jumping, stamping, hopping, and squatting. In terms of phonic tics, he reported grunting, throat clearing, coughing, barking, snorting, sniffing, and humming, plus complex vocalizations including animal sounds. The tics showed a typical waxing and waning course over time. Moreover, A.B.’s tics were characteristically preceded by premonitory urges and could be voluntarily suppressed for a few seconds at the expense of mounting inner tension. These involuntary symptoms were exacerbated by psychological stress and alleviated by physical activity and active concentration. With regard to complex tics and ticrelated symptoms, A.B. reported coprophenomena (including mental coprolalia), paliphenomena, and echolalia. He scored 79% on the Tourette Syndrome Diagnostic Confidence Index3 and 58% on the Yale Global Tic Severity Scale,4 indicating moderate-to-marked tic severity. A.B. fulfilled the current e80
neuro.psychiatryonline.org
diagnostic criteria for Tourette’s syndrome. With regard to behavioral comorbidities, there was evidence of specific obsessive-compulsive symptoms, which are considered part of the clinical phenotype of Tourette’s syndrome, including checking, counting (arithmomania), and excessive hand washing.5,6 There was also a history of childhood attention deficit, which had improved to some extent with age, plus anxiety and affective symptoms. DISCUSSION Interestingly, A.B. had been diagnosed with Adams–Oliver syndrome based on the presence of both cranial aplasia cutis congenita and terminal transverse limb defects. His two brothers were both diagnosed with the same genetic condition, and one died at the age of 3 months. In terms of neurodevelopmental problems, dyslexia and oculomotor dyspraxia were noted since an early age, whereas tics prompted a diagnosis of Tourette’s syndrome only in early adulthood. Tourette’s syndrome has been reported in the context of other genetic conditions,7 and tic symptoms are proposed as a possible addendum to the neurodevelopmental spectrum of Adams–Oliver syndrome. REFERENCES 1. Adams FH, Oliver CP: Hereditary deformities in man due to arrested development. J Hered 1945; 36:3–7 2. Snape KM, Ruddy D, Zenker M, et al: The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009; 149A:1860–1881 3. Robertson MM, Banerjee S, Kurlan R, et al: The Tourette Syndrome Diagnostic Confidence Index: Development and validation. Neurology 1999; 53:2108–2112 4. Leckman JF, Riddle MA, Hardin MT, et al: The Yale Global Tic Severity Scale: initial testing of a clinician-rated scale of tic severity. J Am Acad Child Adolesc Psychiatry 1989; 28:566–573 5. Cavanna AE, Rickards HE: The psychopathological spectrum of Gilles de la Tourette syndrome. Neurosci Biobehav Rev 2013; 37:1008–1015 6. Cavanna AE, Seri S: Tourette’s syndrome. BMJ 2013; 347:f4964 7. Katuwawela I, Cavanna AE: Good response to clonidine in tourette syndrome associated with chromosomal translocation involving the IMMP2L gene. J Neuropsychiatry Clin Neurosci 2012; 24:E17 Fairooz Hassiem Andrea E. Cavanna, M.D., Ph.D., F.R.C.P. Dept. of Neuropsychiatry Research Group, Birmingham and Solihull Mental Health NHS Foundation Trust, and University of Birmingham, Birmingham, United Kingdom (FH, AEC); School of Life and Health Sciences, Aston University, Birmingham, United Kingdom (AEC); and University College London and Institute of Neurology, London, United Kingdom (AEC) Correspondence: Andrea E. Cavanna; e-mail: [email protected] J Neuropsychiatry Clin Neurosci 2015; 27:e80; doi: 10.1176/appi.neuropsych. 13120377
J Neuropsychiatry Clin Neurosci 27:1, Winter 2015
