Report of a New Case of Pentasomy X Revealed by Status Epilepticus

Abstract

This report describes an exceptional case of X (49, XXXXX) pentasomy in a girl aged three years and five months. She was admitted for recurrent seizures revealing epilepsy. She has growth failure and psychomotor retardation with a deformed face. The malformative assessment did not show any malformation apart from cerebral leukodystrophy. Pentasomy X is a very rare abnormality of the sex chromosomes. It only affects females, in whom three additional X chromosomes are added to the two X normally present. The pathogenesis of pentasomy X is not exactly clear, but it is probably caused by successive maternal nondisjunctions. Epilepsy and cerebral leukodystrophy are a new mode of revelation of this syndrome, never described in the literature.

Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis

“…Pubertal development of affected girls is delayed, and fertility is assumed to be reduced [1,21,22]. Additional findings reported in patients with pentasomy X were immunoglobulin anomalies and an increased susceptibility to infection, thenar atrophy, epilepsy and cerebral leukodystrophy [5,18]. The diagnosis of pentasomy X is usually ascertained postnatally and the prenatal diagnosis of the disease is generally fortuitous.…”

“…It is characterized by a variable phenotype in females. Pentasomy X was first described in 1963, by Kesaree and Wooley [ 17 ], and only around 30 children with a 49,XXXXX karyotype were reported so far [ 18 ]. The pathogenesis of pentasomy X is probably caused by successive meiotic non disjunctions, either maternal or combined maternal and paternal in origin [ 19 ].…”

Manifestaciones bucales en un paciente pediátrico con pentasomía x. Reporte de un caso

“…Most polysomies are due to a double nondisjunction in morphogenesis; even though the pathogenesis of pentasomy X is unclear, it is probably caused by successive maternal non-disjunctions. The addition of more than one extra sex chromosome occurs exceptionally and information is generally limited to isolated case reports 2 , 3 .…”

“…External genitalia are normal, but gonadal dysfunction has been reported. It is also associated with immunoglobulin anomalies and increased susceptibility to infection 2 , 3 .…”

“…According to buccal findings, few and ambiguous manifestations are reported. Only features mentioned include prominent philtrum, cupid's bow upper lip 6 , high-arched palate, facial asymmetry 7 , multiple abnormalities of craniofacial skeleton 8 , serious dental anomalies 9 , facial dysmorphisms 4 , 10 or deformed face 3 .…”