Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review.

Individuals with biallelic TBCK pathogenic variants present in infancy with distinctive facial features, profound hypotonia, severe intellectual impairment and epilepsy. Although rare, it may mimic other neurogenetic disorders leading to extensive investigations. Improved understanding of the clinical phenotype can support early monitoring of complications due to respiratory insufficiency.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Objective: Several small case series identified KCTD7 mutations in patients with a rare autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and neuronal ceroid lipofuscinosis (CLN14). Despite the name KCTD (potassium channel tetramerization domain), KCTD protein family members lack predicted channel domains. We sought to translate insight gained from yeast studies to uncover disease mechanisms associated with deficiencies in KCTD7 of unknown function.

Fifteen minute consultation: tics and Tourette syndrome.

Tic disorders including Tourette syndrome (TS) are neuropsychiatric disorders that are common referrals to paediatricians, paediatric neurologists and child psychiatrists. Although differentiating tics and TS from other movement disorders is not difficult, it is essential to detect comorbid conditions and their contribution to TS.

Fifteen minute consultation: tremor in children.

Tremor is defined as a rhythmic, involuntary, oscillatory movement of body parts. Although constituting nearly 20% of presentations with paediatric movement disorders, tremor in childhood, beginning in the neonatal period, has rarely been described in the literature. Tremor may be an isolated finding or a part of associated neurological or systemic disorders.

Fifteen-minute consultation: The child with acute ataxia.

Acute ataxia is a relatively common presentation to the paediatric acute services or child neurologist. Although the cause of ataxia is most often benign, it is important during initial assessment to recognise or exclude serious causes including brain tumour and central nervous system infections. It is equally important to recognise the non-neurological causes of unsteady gait and to avoid unnecessary investigations.