BCS1L mutations cause disease phenotypes ranging from highly restricted pili torti and sensorineural hearing loss (the Björnstad syndrome) to profound multisystem organ failure (complex III deficiency and the GRACILE syndrome). All BCS1L mutations disrupted the assembly of mitochondrial respirasomes (the basic unit for respiration in human mitochondria), but the clinical expression of the mutations was correlated with the production of reactive oxygen species. Mutations that cause the Björnstad syndrome illustrate the exquisite sensitivity of ear and hair tissues to mitochondrial function, particularly to the production of reactive oxygen species.

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LGMD2I is a relevant differential diagnosis when creatine kinase is increased in children presenting with fatigue, muscle pain and sometimes weakness.

Seizure symptoms, disturbed sleep quality, significant changes in behaviour or regression of cognitive ability in children with ADHD should lead to paediatric neurological assessment with EEG and possibly a 24-hour EEG. In our view, the QEEG variables are artifact-prone and biologically unspecific. We therefore do not recommend the use of QEEG as a stand-alone diagnostic marker.

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