CENTRUM
KINDERGENEESKUNDE
ARTIKELS ABSTRACT 1 Harlequin syndrome in a pediatric population: a case series Beullen N, Tourlamain G, Vallaeys L, et al. Acta Neurologica Belgica, 2021, 121(3), 625-631
STRADA deletion of exon 9-13. Five additional PMSE patients have been reported since, each of them with loss-of-function variants. We report a female patient with the typical clinical features of PMSE, homozygous for a novel STRADA missense mutation c.792T>A (p.Ser264Arg) in exon 10. This finding contributes to the further delineation of the phenotype of PMSE.
ABSTRACT Harlequin syndrome is a rare condition, presenting with unilateral facial flushing and hyperhidrosis in response to physical exercise, heat or emotional stressors and has scarcely been reported in pediatric patients. It is caused by a dysfunction of vasomotor and sudomotor sympathetic fiber activity inhibiting the ability to flush on the affected side, causing the neurologically intact side to appear red. We present three pediatric cases of this uncommon syndrome, each of them of different origin and displaying distinct associated (neurological) symptoms, and review medical literature. Insight into the anatomical structure of the thoracocervical and facial sympathetic nervous system is pivotal as it dictates symptomatology. About half of Harlequin syndrome cases are complicated with ocular symptoms and a minority may be part of more extensive partial dysautonomias affecting facial sudomotor, vasomotor and pupillary responses, such as Holmes-Adie syndrome and Ross syndrome. Etiology is generally idiopathic, however cases secondary to surgery, trauma or infection have been described. Considering its predominantly self-limiting nature, treatment is usually unnecessary and should be restricted to incapacitating cases.
ABSTRACT 2 Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome Aerden M, Vallaeys L, Holvoet M Clinical Dysmorphology, 2021, 30(3), 121-124
ABSTRACT Homozygous or compound heterozygous mutations in STRADA cause polyhydramnios, megalencephaly and symptomatic epilepsy syndrome (PMSE), with additional features of distinctive facial traits and severe developmental delay or intellectual disability. This syndrome was first defined in 16 Old Order Mennonite patients, carrying a homozygous
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