Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia

Abstract

We present our approach to the diagnosis of pediatric neurotransmitter diseases exemplified by the differential diagnosis of children presenting with dystonia. This approach is based upon the primary aim of early diagnosis of treatable conditions and the need for a logical series of investigations. We have tried to be comprehensive with our coverage but are aware that "new" pediatric neurotransmitter diseases continue to be delineated and that, similarly, a proportion of children presenting with dystonia remain undiagnosed. If this is the case, all of the investigations suggested here may need to be performed regardless of age and presentation. However, of more value is a careful clinical reevaluation.

Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm

“…Owing to the extraordinarily broad range of possible causes of DC, several algorithms have been developed to assist clinicians in making diagnostic decisions 2 35 36. These algorithms are not widely applicable as they mainly focus on (rare) neurometabolic causes and do not make use of the availability of NGS methodologies.…”

Aromatic L-amino acid decarboxylase deficiency: perspectives on diagnosis and management

“…While hypotonia may not be a very specific feature, this particular combination with movement disorders, OGCs, and an episodic fluctuation of symptoms would be a strong indicator of a central neurotransmitter disorder such as AADC deficiency ( Figure 2). 13 Other manifestations included ptosis, poor visual fixation, sleeping difficulties, autonomic dysfunction, temperature instability, irritability, and nasal congestion.…”

“…Early evolving (hypotonic phase) or dyskinetic cerebral palsy, other earlyonset disorders of dopamine metabolism, and hyperekplexia (excessive startle response) are other possible differential diagnoses. 13 Besides the primary monoamine neurotransmitter defects, including AADC deficiency, there are also secondary causes of monoamine neurotransmitter defects. These occur in submit your manuscript | www.dovepress.com Dovepress Dovepress vitamin B6-requiring enzyme, AADC, to form dopamine and serotonin, respectively.…”

Neurotransmitter Disorders

“…Important neurological symptoms are developmental delay, central and peripheral hypotonia, hypo-or hyperkinesia, mixed pyramidal and extrapyramidal motor disorders, epilepsy, and oculogyric crises. Cognitive function is generally less severely affected (Assmann et al 2003 ;Brun et al 2010 ;Willemsen et al 2010 ).…”