Neurodevelopmental and associated changes in a patient with Xp22.31 duplication
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LETTER TO THE EDITOR
Neurodevelopmental and associated changes in a patient with Xp22.31 duplication Christine MacColl 1 & Nina Stein 2,3 & Mark Tarnopolsky 3,4 & Jian-Qiang Lu 1,5 Received: 4 June 2019 / Accepted: 31 August 2019 # Fondazione Società Italiana di Neurologia 2019
Dear Editor, The Xp22.31 duplication is a copy number variant which clinicopathological significance remains unclear. Although the pathogenicity of Xp22.31 duplication is debatable [1, 2], the patients with Xp22.31 duplication generally present with cognitive and behavioral phenotypes [3, 4]. Seizures are also seen in some patients with Xp22.31 duplication, but the pathological basis of seizures is unknown [3–5]. Here we report the first case of postmortem neuropathological examination which findings provide novel insight into the pathophysiology of phenotypes with Xp22.31 duplication. The patient was a baby girl who was born at term to a 23-year-old mother after an uncomplicated pregnancy. The delivery was spontaneous, with no resuscitation required at birth. The baby was evaluated in the first month of life for bilateral clubfeet, microcephaly, hypotonia, and failure to thrive. Neurological examination at 6 weeks revealed no overt dysmorphic features or spinal abnormalities, but central hypotonia with head lag and decreased ventral suspension and vertical suspension. Nerve conduction testing and electromyography showed a mixed pattern of both motor and sensory abnormalities. Her cardiac examination was normal. Metabolic screening tests including organic acids,
* Jian-Qiang Lu [email protected] 1
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
2
Department of Radiology, McMaster University, Hamilton, Ontario, Canada
3
Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada
4
Department of Medicine/Neurology, McMaster University, Hamilton, Ontario, Canada
5
Neuropathology Section, Hamilton General Hospital, McMaster University, 237 Barton Street, Hamilton, Ontario L8L 2X2, Canada
amino acids, and acylcarnitine profile were all normal, so were electrolytes and other blood tests such as liver enzymes and kidney functions. Chromosome microarray followed by quantitative polymerase chain reaction confirmation revealed a Xp22.31 microduplication, involving the STS and PNPL4 gene regions (chrX:7,177,815-7,177,894 and chrX:7,882,315-7,882,430; approximately 1678 kb in size), which was confirmed to be inherited from the mother who was healthy except mild clubfeet. The baby experienced her first seizure at 5 months. The postictal electroencephalogram (EEG) was abnormal with poorly formed background activity for the age but no epileptiform discharges; neurological examination at that time revealed prominence of the midline suture; in addition to the previous findings, she was noted to fix and follow. Cranial magnetic resonance imaging (MRI) at 6 months disclosed symmetrical abnormal T2 signals in the basal ganglia (Fig. 1a), thalami, and brainstem, as well as restricted diffus
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